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Entry
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- *141800 - HEMOGLOBIN--ALPHA LOCUS 1; HBA1
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- OMIM
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<div class="container hidden-print">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*141800</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/141800">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000206172;t=ENST00000320868" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3039" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=141800" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000206172;t=ENST00000320868" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000558" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000558" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=141800" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00784&isoform_id=00784_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HBA1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/28558,183801,183805,386765,553329,1340147,1340148,1817578,3859550,4038450,4504347,9624481,13195586,13543548,13650074,13958153,14250291,14336681,14336682,21594679,21954738,22671717,27804485,27804515,27902682,28542874,30047788,31376247,31745809,47679337,57013850,62898345,63080988,75517307,75517967,90653009,90653010,95115683,119606269,237675826,269931979,304569489,319739573,319912114,385275336,546234980,557562028,1690491808,1690491810,1690491812,2833698709" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P69905" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3039" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000206172;t=ENST00000320868" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HBA1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=HBA1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3039" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/HBA1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3039" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3039" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000320868.9&hgg_start=176680&hgg_end=177522&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4823" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4823" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/hba1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=141800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=141800[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/HBA1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000206172" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HBA1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HBA1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HBA1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://globin.cse.psu.edu/globin/hbvar/menu.html" title="HbVar: A Database of Human Hemoglobin Variants and Thalassemias" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">HbVar: A Database of Human…</a></div><div style="margin-left: 0.5em;"><a href="http://lovd.bx.psu.edu/home.php?select_db=HBA1" title="Alpha-1 globin (HBA1) database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Alpha-1 globin (HBA1) data…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HBA1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA29198" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4823" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0027657.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:96015 MGI:96016" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/HBA1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/batch/summary?idType=MGI&ids=MGI:96015 MGI:96016" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3039/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3039" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-980526-79" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:141800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3039" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=HBA1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 36467003, 68913001, 74405003<br />
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<strong>ICD10CM:</strong> D56.0<br />
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<strong>ICD9CM:</strong> 282.43<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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141800
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HEMOGLOBIN--ALPHA LOCUS 1; HBA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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3-PRIME ALPHA-GLOBIN GENE<br />
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MINOR ALPHA-GLOBIN LOCUS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HBA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HBA1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/18?start=-3&limit=10&highlight=18">16p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:176680-177522&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:176,680-177,522</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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Phenotype
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View Clinical Synopses
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Phenotype <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/16/18?start=-3&limit=10&highlight=18">
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16p13.3
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Erythrocytosis, familial, 7
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<a href="/entry/617981"> 617981 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/140700"> 140700 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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Hemoglobin H disease, nondeletional
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<a href="/entry/613978"> 613978 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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Methemoglobinemia, alpha type
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<a href="/entry/617973"> 617973 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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Thalassemias, alpha-
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<a href="/entry/604131"> 604131 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/141800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/141800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The alpha and beta loci determine the structure of the 2 types of polypeptide chains in the tetrameric adult hemoglobin, Hb A, alpha-2/beta-2. The alpha locus also determines a polypeptide chain, the alpha chain, in fetal hemoglobin (alpha-2/gamma-2), in hemoglobin A2(alpha-2/delta-2), and in embryonic hemoglobin (alpha-2/epsilon-2). The number of normal alpha genes (3, 2, 1 or none) in Asian cases of alpha-thalassemia (<a href="/entry/604131">604131</a>) results in 4 different alpha-thalassemia syndromes (<a href="#192" class="mim-tip-reference" title="Kan, Y. W., Golbus, M. S., Dozy, A. M. <strong>Prenatal diagnosis of alpha-thalassemia: clinical application of molecular hybridization.</strong> New Eng. J. Med. 295: 1165-1167, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/980019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">980019</a>] [<a href="https://doi.org/10.1056/NEJM197611182952104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="980019">Kan et al., 1976</a>). Three normal alpha genes gives a silent carrier state. Two normal alpha genes results in microcytosis (so-called heterozygous alpha-thalassemia). One normal alpha gene results in microcytosis and hemolysis (so-called Hb H disease, <a href="/entry/613978">613978</a>). No normal alpha gene results in 'homozygous alpha-thalassemia' manifested as fatal hydrops fetalis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=980019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The alpha chain of human hemoglobin contains 141 amino acids (<a href="#202" class="mim-tip-reference" title="Konigsberg, W., Guidotti, G., Hill, R. J. <strong>The amino acid sequence of the alpha chain of human hemoglobin.</strong> J. Biol. Chem. 236: PC55-PC56, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13752954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13752954</a>]" pmid="13752954">Konigsberg et al., 1961</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13752954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mapping</strong>
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<p>By studies of somatic cell hybrids, <a href="#86" class="mim-tip-reference" title="Deisseroth, A., Velez, R., Nienhuis, A. W. <strong>Hemoglobin synthesis in somatic cell hybrids: independent segregation of the human alpha- and beta-globin genes.</strong> Science 191: 1262-1263, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/943846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">943846</a>] [<a href="https://doi.org/10.1126/science.943846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="943846">Deisseroth et al. (1976)</a> showed that the alpha and beta loci are on different chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=943846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#85" class="mim-tip-reference" title="Deisseroth, A., Nienhuis, A., Turner, P., Velez, R., Anderson, W. F., Ruddle, F. H., Lawrence, J., Creagan, R. P., Kucherlapati, R. S. <strong>Localization of the human alpha globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay.</strong> Cell 12: 205-218, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/561664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">561664</a>] [<a href="https://doi.org/10.1016/0092-8674(77)90198-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="561664">Deisseroth et al. (1977)</a> combined the methods of somatic cell hybridization and DNA-cDNA hybridization to establish assignment of the alpha-globin locus to chromosome 16. This represents an extension of the cell hybridization method permitting mapping of genes that are not functional in the cultured cell. <a href="#84" class="mim-tip-reference" title="Deisseroth, A., Hendrick, D. <strong>Human alpha-globin gene expression following chromosomal dependent gene transfer into mouse erythroleukemia cells.</strong> Cell 15: 55-63, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/279411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">279411</a>] [<a href="https://doi.org/10.1016/0092-8674(78)90082-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="279411">Deisseroth and Hendrick (1978)</a> confirmed the assignment of the alpha locus to chromosome 16 by means of cotransfer of this gene with the human APRT gene, known to be on 16 (see <a href="/entry/102600">102600</a>), into mouse erythroleukemia cells. (The APRT gene is on the long arm of chromosome 16.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=279411+561664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#412" class="mim-tip-reference" title="Weitkamp, L. R., Stamatoyannopoulos, G., Rowley, P. T., Kirk, R. L. <strong>The linkage relationships of the haemoglobin beta, delta and alpha loci with 34 genetic marker systems.</strong> Ann. Hum. Genet. 41: 61-75, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/921219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">921219</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1977.tb01962.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="921219">Weitkamp et al. (1977)</a> presented data concerning linkage of the alpha and beta loci to 34 marker loci. Data on alpha-thalassemia, combined with those on the Hopkins-2 variant, excluded linkage of alpha and haptoglobin (<a href="/entry/140100">140100</a>) at a recombination fraction less than 0.15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=921219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of findings in a case of partial trisomy 16, <a href="#390" class="mim-tip-reference" title="Wainscoat, J. S., Kanavakis, E., Weatherall, D. J., Walker, J., Holmes-Seidle, M., Bobrow, M., Donnison, A. B. <strong>Regional localisation of the human alpha-globin genes. (Letter)</strong> Lancet 318: 301-302, 1981. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6114338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6114338</a>] [<a href="https://doi.org/10.1016/s0140-6736(81)90542-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6114338">Wainscoat et al. (1981)</a> concluded that the alpha-globin genes are on segment 16pter-p12. By combining somatic cell hybridization with a cDNA probe in the study of a cell line with reciprocal translocation between 16q and 11q, <a href="#200" class="mim-tip-reference" title="Koeffler, H. P., Sparkes, R. S., Stang, H., Mohandas, T. <strong>Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16.</strong> Proc. Nat. Acad. Sci. 78: 7015-7018, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6273902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6273902</a>] [<a href="https://doi.org/10.1073/pnas.78.11.7015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6273902">Koeffler et al. (1981)</a> showed that the alpha-globin genes are on the short arm of 16. <a href="#115" class="mim-tip-reference" title="Gerhard, D. S., Kawasaki, E. S., Bancroft, F. C., Szabo, P. <strong>Localization of a unique gene by direct hybridization in situ.</strong> Proc. Nat. Acad. Sci. 78: 3755-3759, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6943581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6943581</a>] [<a href="https://doi.org/10.1073/pnas.78.6.3755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6943581">Gerhard et al. (1981)</a> used an improved method of in situ hybridization to confirm the assignment of the alpha-globin cluster to chromosome 16p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6273902+6943581+6114338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of the findings in a fetus with an unbalanced translocation involving 16p, <a href="#51" class="mim-tip-reference" title="Breuning, M. H., Madan, K., Verjaal, M., Wijnen, J. T., Meera Khan, P., Pearson, P. L. <strong>Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP.</strong> Hum. Genet. 76: 287-289, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3036689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3036689</a>] [<a href="https://doi.org/10.1007/BF00283625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3036689">Breuning et al. (1987)</a> concluded that the HBA cluster is distal to PGP (<a href="/entry/172280">172280</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3036689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By a combination of in situ hybridization, Southern blot analysis, and linkage analysis using the fragile site 16p12.3 and translocation breakpoints within band 16p13.1, <a href="#356" class="mim-tip-reference" title="Simmers, R. N., Mulley, J. C., Hyland, V. J., Callen, D. F., Sutherland, G. R. <strong>Mapping the human alpha globin gene complex to 16p13.2-pter.</strong> J. Med. Genet. 24: 761-766, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3430555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3430555</a>] [<a href="https://doi.org/10.1136/jmg.24.12.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3430555">Simmers et al. (1987)</a> mapped the alpha-globin gene complex to 16pter-p13.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3430555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#55" class="mim-tip-reference" title="Buckle, V. J., Higgs, D. R., Wilkie, A. O. M., Super, M., Weatherall, D. J. <strong>Localisation of human alpha globin to 16p13.3-pter.</strong> J. Med. Genet. 25: 847-849, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3236367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3236367</a>] [<a href="https://doi.org/10.1136/jmg.25.12.847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3236367">Buckle et al. (1988)</a> described a child in whom cytogenetic analysis indicated monosomy for 16pter-p13.3. DNA studies showed that the patient had not inherited either maternal alpha-globin allele. The child had the alpha-thalassemia trait as well as moderate mental retardation and dysmorphic features. They determined that the gene is located in the 16pter-p13.3 segment. After reviewing earlier data placing the alpha-globin cluster slightly more proximal, they concluded that the findings in this child may be more reliable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3236367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#288" class="mim-tip-reference" title="Orkin, S. H. <strong>The duplicated human alpha globin lie close together in cellular DNA.</strong> Proc. Nat. Acad. Sci. 75: 5950-5954, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/282616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">282616</a>] [<a href="https://doi.org/10.1073/pnas.75.12.5950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="282616">Orkin (1978)</a> identified alpha-globin gene fragments in restriction endonuclease digests of total DNA after electrophoresis by hybridization with P32-labeled cDNA probes. The data indicated that the alpha genes occur in duplicate and that the 2 copies lie close together. Thus direct physical evidence was provided for the duplication deduced from the findings with mutant alpha chains and with the alpha-thalassemias and the kinetics of hybridization in solution. The 2 alpha chains lie about 3.7 kilobases apart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=282616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#212" class="mim-tip-reference" title="Leder, A., Miller, H. I., Hamer, D. H., Seidman, J. G., Norman, B., Sullivan, M., Leder, P. <strong>Comparison of cloned mouse alpha- and beta-globin genes: conservation of intervening sequence locations and extragenic homology.</strong> Proc. Nat. Acad. Sci. 75: 6187-6191, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/282635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">282635</a>] [<a href="https://doi.org/10.1073/pnas.75.12.6187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="282635">Leder et al. (1978)</a> presented evidence that the alpha and beta genes of all adult mammalian hemoglobins have 2 intervening sequences at analogous positions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=282635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#360" class="mim-tip-reference" title="Straub, A. C., Lohman, A. W., Billaud, M., Johnstone, S. R., Dwyer, S. T., Lee, M. Y., Bortz, P. S., Best, A. K., Columbus, L., Gaston, B., Isakson, B. E. <strong>Endothelial cell expression of haemoglobin alpha regulates nitric oxide signalling.</strong> Nature 491: 473-477, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23123858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23123858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23123858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature11626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23123858">Straub et al. (2012)</a> reported a model for the regulation of nitric oxide (NO) signaling by demonstrating that hemoglobin alpha, encoded by the HBA1 and HBA2 (<a href="/entry/141850">141850</a>) genes, is expressed in human and mouse arterial endothelial cells and enriched at the myoendothelial junction, where it regulates the effects of NO on vascular reactivity. Notably, this function is unique to hemoglobin alpha and is abrogated by its genetic depletion. Mechanistically, endothelial hemoglobin alpha heme iron in the Fe(3+) state permits NO signaling, and this signaling is shut off when hemoglobin alpha is reduced to the Fe(2+) state by endothelial cytochrome b5 reductase 3 (CYB5R3; <a href="/entry/613213">613213</a>). Genetic and pharmacologic inhibition of CYB5R3 increased NO bioactivity in small arteries. <a href="#360" class="mim-tip-reference" title="Straub, A. C., Lohman, A. W., Billaud, M., Johnstone, S. R., Dwyer, S. T., Lee, M. Y., Bortz, P. S., Best, A. K., Columbus, L., Gaston, B., Isakson, B. E. <strong>Endothelial cell expression of haemoglobin alpha regulates nitric oxide signalling.</strong> Nature 491: 473-477, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23123858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23123858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23123858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature11626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23123858">Straub et al. (2012)</a> concluded that their data revealed a mechanism by which the regulation of the intracellular hemoglobin alpha oxidation state controls nitric oxide synthase (NOS; see <a href="/entry/163729">163729</a>) signaling in nonerythroid cells. The authors suggested that this model may be relevant to heme-containing globins in a broad range of NOS-containing somatic cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23123858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#16" class="mim-tip-reference" title="Andersen, C. B. F., Torvund-Jensen, M., Nielsen, M. J., de Oliveira, C. L. P., Hersleth, H.-P., Andersen, N. H., Pedersen, J. S., Andersen, G. R., Moestrup, S. K. <strong>Structure of the haptoglobin-haemoglobin complex.</strong> Nature 489: 456-459, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922649</a>] [<a href="https://doi.org/10.1038/nature11369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922649">Andersen et al. (2012)</a> presented the crystal structure of the dimeric porcine haptoglobin (<a href="/entry/140100">140100</a>)-hemoglobin complex determined at 2.9-angstrom resolution. This structure revealed that haptoglobin molecules dimerize through an unexpected beta-strand swap between 2 complement control protein (CCP) domains, defining a new fusion CCP domain structure. The haptoglobin serine protease domain forms extensive interactions with both the alpha- and beta-subunits of hemoglobin, explaining the tight binding between haptoglobin and hemoglobin. The hemoglobin-interacting region in the alpha-beta dimer is highly overlapping with the interface between the 2 alpha-beta dimers that constitute the native hemoglobin tetramer. Several hemoglobin residues prone to oxidative modification after exposure to heme-induced reactive oxygen species are buried in the haptoglobin-hemoglobin interface, thus showing a direct protective role of haptoglobin. The haptoglobin loop previously shown to be essential for binding of haptoglobin-hemoglobin to the macrophage scavenger receptor CD163 (<a href="/entry/605545">605545</a>) protrudes from the surface of the distal end of the complex, adjacent to the associated hemoglobin alpha-subunit. Small-angle x-ray scattering measurements of human haptoglobin-hemoglobin bound to the ligand-binding fragment of CD163 confirmed receptor binding in this area, and showed that the rigid dimeric complex can bind 2 receptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#415" class="mim-tip-reference" title="Wilson, J. T., deRiel, J. K., Forget, B. G., Marotta, C. A., Weissman, S. M. <strong>Nucleotide sequence of 3-prime untranslated portion of human alpha globin mRNA.</strong> Nucleic Acids Res. 4: 2353-2368, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/909779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">909779</a>] [<a href="https://doi.org/10.1093/nar/4.7.2353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="909779">Wilson et al. (1977)</a> described a possible nucleotide polymorphism in the untranslated 3-prime region of the alpha-globin gene and suggested that the heterogeneity is related to the existence of 2 alpha gene loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=909779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#267" class="mim-tip-reference" title="Musumeci, S., Schiliro, G., Pizzarelli, G., Fischer, A., Russo, G. <strong>Thalassemia of intermediate severity resulting from the interaction between alpha- and beta-thalassemia.</strong> J. Med. Genet. 15: 448-451, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/745216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">745216</a>] [<a href="https://doi.org/10.1136/jmg.15.6.448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="745216">Musumeci et al. (1978)</a> pointed out that the combination of alpha-thalassemia and beta-thalassemia leads to less severe clinical expression of homozygous beta-thalassemia. The rarity of a chromosome 16 with both alpha loci deleted (as demonstrated by the restriction endonuclease mapping technique of Southern) explains the rarity of severe forms of alpha-thalassemia in Africans, e.g., Hb H disease, which requires loss of 3 alpha loci and homozygous alpha-thalassemia which requires loss of 4 alpha loci (<a href="#92" class="mim-tip-reference" title="Dozy, A. M., Forman, E. N., Abuelo, D. N., Barsel-Bowers, G., Mahoney, M. J., Forget, B. G., Kan, Y. W. <strong>Prenatal diagnosis of hemizygous alpha-thalassemia.</strong> JAMA 241: 1610-1613, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/430715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">430715</a>]" pmid="430715">Dozy et al., 1979</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=745216+430715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By restriction endonuclease mapping, <a href="#120" class="mim-tip-reference" title="Goossens, M., Dozy, A. M., Embury, S. H., Zachariadis, Z., Hadjiminas, M. G., Stamatoyannopoulos, G., Kan, Y. W. <strong>Triplicated alpha-globin loci in humans.</strong> Proc. Nat. Acad. Sci. 77: 518-521, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6928643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6928643</a>] [<a href="https://doi.org/10.1073/pnas.77.1.518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6928643">Goossens et al. (1980)</a> identified 12 persons heterozygous for a chromosome carrying 3 alpha genes. There were no hematologic abnormalities. The frequency was 0.0036 in American Blacks and 0.05 in Greek Cypriots. They had previously shown a frequency of 0.16 for the single alpha-globin locus in black Americans. The single locus had a frequency of 0.18 in Sardinians, but none of 125 Sardinians had a triple alpha locus, suggesting that the former had a selective advantage. Greek Cypriots have a frequency of 0.07 for the single alpha locus. Among 645 Japanese subjects studied, <a href="#268" class="mim-tip-reference" title="Nakashima, H., Fujiyama, A., Kagiyama, S., Imamura, T. <strong>Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci.</strong> Hum. Genet. 84: 568-570, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1970975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1970975</a>] [<a href="https://doi.org/10.1007/BF00210811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1970975">Nakashima et al. (1990)</a> found 10 persons heterozygous for a chromosome with the triplicated alpha-globin locus. Thus, the frequency of the triplicate alpha locus was 0.008 in this population, while that of the single alpha-locus, i.e., the alpha-thalassemia-2 gene, may be lower than 0.0008. Analysis of haplotypes suggested that the triple alpha loci may have had multiple origins. <a href="#268" class="mim-tip-reference" title="Nakashima, H., Fujiyama, A., Kagiyama, S., Imamura, T. <strong>Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci.</strong> Hum. Genet. 84: 568-570, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1970975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1970975</a>] [<a href="https://doi.org/10.1007/BF00210811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1970975">Nakashima et al. (1990)</a> commented on the fact that in Melanesia the frequency of the triplicated genotype is about the same (<a href="#104" class="mim-tip-reference" title="Flint, J., Hill, A. V. S., Bowden, D. K., Oppenheimer, S. J., Sill, P. R., Serjeantson, S. W., Bonna-Kori, J., Bhatia, K., Alpers, M. P., Boyce, A. J., Weatherall, D. J., Clegg, J. B. <strong>High frequencies of alpha-thalassemia are the result of natural selection by malaria.</strong> Nature 321: 744-751, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3713863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3713863</a>] [<a href="https://doi.org/10.1038/321744a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3713863">Flint et al., 1986</a>) as in Japan, whereas the frequency of the single alpha gene is much higher, compatible with a selective advantage vis-a-vis malaria. <a href="#231" class="mim-tip-reference" title="Liebhaber, S. A., Goossens, M., Kan, Y. W. <strong>Homology and concerted evolution at the alpha-1 and alpha-2 loci of human alpha-globin.</strong> Nature 290: 26-29, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7010180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7010180</a>] [<a href="https://doi.org/10.1038/290026a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7010180">Liebhaber et al. (1981)</a> found identity of the alpha-1-globin genes from an Asian and a Caucasian. Furthermore, the alpha-1 and alpha-2 genes have a much higher degree of homology than would be predicted from the timing of the duplication before the bird-mammal divergence (about 300 Myr ago). <a href="#231" class="mim-tip-reference" title="Liebhaber, S. A., Goossens, M., Kan, Y. W. <strong>Homology and concerted evolution at the alpha-1 and alpha-2 loci of human alpha-globin.</strong> Nature 290: 26-29, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7010180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7010180</a>] [<a href="https://doi.org/10.1038/290026a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7010180">Liebhaber et al. (1981)</a> presented this as evidence for the existence of mechanisms for suppression of allelic polymorphisms and for exchange of genetic information within the alpha-globin gene complex. See <a href="/entry/142200">142200</a> for a discussion of gene conversion in relation to a comparably surprising homology of the 2 gamma-globin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6928643+7010180+1970975+3713863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#217" class="mim-tip-reference" title="Lehmann, H., Carrell, R. W. <strong>Nomenclature of the alpha-thalassaemias.</strong> Lancet 323: 552-553, 1984. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6199634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6199634</a>] [<a href="https://doi.org/10.1016/s0140-6736(84)90942-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6199634">Lehmann and Carrell (1984)</a> suggested the use of the following nomenclature for alpha-thalassemias based on the number of alpha-globin genes that are missing or abnormal: 1-alpha-thalassemia (silent type); 2-alpha-thalassemia, trans or cis (thalassemia trait); 3-alpha-thalassemia (Hb H disease); and 4-alpha-thalassemia (Hb Bart hydrops fetalis). In this scheme, homozygous Hb Constant Spring is a 2-alpha-thalassemia which, if combined with a cis 2-alpha-thalassemia heterozygous Hb Constant Spring, gives a 3-alpha-thalassemia and results in Hb H disease. <a href="#217" class="mim-tip-reference" title="Lehmann, H., Carrell, R. W. <strong>Nomenclature of the alpha-thalassaemias.</strong> Lancet 323: 552-553, 1984. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6199634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6199634</a>] [<a href="https://doi.org/10.1016/s0140-6736(84)90942-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6199634">Lehmann and Carrell (1984)</a> also proposed that the 2 alpha-globin genes be designated as 5-prime (now alpha-2) and 3-prime (now alpha-1). <a href="#229" class="mim-tip-reference" title="Liebhaber, S. A., Cash, F. E. <strong>Locus assignment of alpha-globin structural mutations by hybrid-selected translation.</strong> J. Clin. Invest. 75: 64-70, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2981252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2981252</a>] [<a href="https://doi.org/10.1172/JCI111698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2981252">Liebhaber and Cash (1985)</a> described a method for identifying whether the alpha-1 or alpha-2 locus is the site of particular alpha-globin mutations. <a href="#322" class="mim-tip-reference" title="Rubin, E. M., Kan, Y. W. <strong>A simple sensitive prenatal test for hydrops fetalis caused by alpha-thalassaemia.</strong> Lancet 325: 75-77, 1985. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2857027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2857027</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)91967-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2857027">Rubin and Kan (1985)</a> described a sensitive method for determining how many alpha-globin genes are present. It had the advantages of not requiring restriction enzyme digestion and gel electrophoresis and using the much more stable isotope (35)S rather than 32(P) for labeling. Only a small sample of DNA is needed. Application of the approach to diagnosis of Down syndrome was proposed. <a href="#17" class="mim-tip-reference" title="Assum, G., Griese, E.-U., Horst, J. <strong>Detection of a restriction site polymorphism within the human alpha-globin gene complex.</strong> Hum. Genet. 69: 144-146, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2982725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2982725</a>] [<a href="https://doi.org/10.1007/BF00293285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2982725">Assum et al. (1985)</a> added a fourth restriction site polymorphism in the alpha-globin gene cluster. Compared to the beta-globin cluster, the alpha-globin cluster seemed to show a poverty of DNA polymorphism; however, <a href="#158" class="mim-tip-reference" title="Higgs, D. R., Wainscoat, J. S., Flint, J., Hill, A. V. S., Thein, S. L., Nicholls, R. D., Teal, H., Ayyub, H., Peto, T. E. A., Falusi, A. G., Jarman, A. P., Clegg, J. B., Weatherall, D. J. <strong>Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.</strong> Proc. Nat. Acad. Sci. 83: 5165-5169, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3014536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3014536</a>] [<a href="https://doi.org/10.1073/pnas.83.14.5165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3014536">Higgs et al. (1986)</a> demonstrated a remarkable degree of DNA polymorphism in the alpha-globin gene cluster. In addition, the RFLP haplotype is associated with hypervariable regions of DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2981252+2857027+2982725+6199634+3014536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Pseudo-alpha-1 (HBAP1), a pseudogene, is defective in several respects, including splice junction mutations and premature termination codons. <a href="#142" class="mim-tip-reference" title="Hardison, R. C., Sawada, I., Cheng, J.-F., Shen, C.-K. J., Schmid, C. W. <strong>A previously undetected pseudogene in the human alpha globin gene cluster.</strong> Nucleic Acids Res. 14: 1903-1911, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3952001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3952001</a>] [<a href="https://doi.org/10.1093/nar/14.4.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3952001">Hardison et al. (1986)</a> identified a previously undetected pseudogene in the alpha-globin cluster. It was not detected by hybridization studies but was found only on sequence analysis. <a href="#142" class="mim-tip-reference" title="Hardison, R. C., Sawada, I., Cheng, J.-F., Shen, C.-K. J., Schmid, C. W. <strong>A previously undetected pseudogene in the human alpha globin gene cluster.</strong> Nucleic Acids Res. 14: 1903-1911, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3952001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3952001</a>] [<a href="https://doi.org/10.1093/nar/14.4.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3952001">Hardison et al. (1986)</a> suggested that 'divergent copies of a large number of genes may comprise a substantial fraction of the slowly renaturing DNA of mammalian genomes.' The newly detected pseudogene, which will be symbolized HBAP2, is only 65 bp 3-prime to the polyadenylation site of zeta-1 (HBZP). The sequence is: 5-prime--HBZ--HBZP--HBAP2--HBA2--HBA1--3-prime. (The functional Hba gene of the mouse is on chromosome 11, but pseudogenes are dispersed to other chromosomes (e.g., Hba-ps3 to mouse chromosome 15) (<a href="#301" class="mim-tip-reference" title="Popp, R. A., Lalley, P. A., Whitney, J. B., III, Anderson, W. F. <strong>Mouse alpha-like globin genes and alpha-globin-like pseudogenes are not syntenic.</strong> Proc. Nat. Acad. Sci. 78: 6362-6366, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6947235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6947235</a>] [<a href="https://doi.org/10.1073/pnas.78.10.6362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6947235">Popp et al., 1981</a>; <a href="#213" class="mim-tip-reference" title="Leder, A., Swan, D., Ruddle, F., D'Eustachio, P. D., Leder, P. <strong>Dispersion of alpha-like globin genes of the mouse to three different chromosomes.</strong> Nature 293: 196-200, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6168916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6168916</a>] [<a href="https://doi.org/10.1038/293196a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6168916">Leder et al., 1981</a>; <a href="#94" class="mim-tip-reference" title="Eicher, E. M., Lee, B. K. <strong>Growth hormone receptor (Ghr) and hemoglobin alpha-chain pseudogene 3 (Hba-ps3) map proximal to the myelocytomatosis oncogene (Myc) on mouse chromosome 15.</strong> Mammalian Genome 1: 57-58, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1794046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1794046</a>] [<a href="https://doi.org/10.1007/BF00350847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1794046">Eicher and Lee, 1991</a>).) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6947235+1794046+6168916+3952001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#379" class="mim-tip-reference" title="Vandenplas, S., Higgs, D. R., Nicholls, R. D., Bester, A. J., Mathew, C. G. P. <strong>Characterization of a new alpha(0) thalassemia defect in the South African population.</strong> Brit. J. Haemat. 66: 539-542, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3663510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3663510</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1987.tb01341.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3663510">Vandenplas et al. (1987)</a> described a new form of alpha-0 thalassemia in a South African family ascertained through a case of Hb H disease. A novel deletion of 22.8-23.7 kb of DNA removed 3 pseudogenes as well as the alpha-2 and alpha-1 genes. Since the alpha-2-globin gene encodes the majority of alpha-globin, a thalassemic mutation of the alpha-1-globin gene would be expected to result in a less severe loss of alpha-chain synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3663510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#258" class="mim-tip-reference" title="Moi, P., Cash, F. E., Liebhaber, S. A., Cao, A., Pirastu, M. <strong>An initiation codon mutation (AUG-to-GUG) of the human alpha-1-globin gene: structural characterization and evidence for a mild thalassemic phenotype.</strong> J. Clin. Invest. 80: 1416-1421, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680504</a>] [<a href="https://doi.org/10.1172/JCI113220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3680504">Moi et al. (1987)</a> described an initiation codon mutation, AUG-to-GUG, in the alpha-1-globin gene. As predicted, the degree of interference with alpha-globin synthesis was less in this mutation than in the mutation in the initiation codon of the alpha-2-globin gene (see <a href="/entry/141850">141850</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3680504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#160" class="mim-tip-reference" title="Hill, A. V. S., Thein, S. L., Mavo, B., Weatherall, D. J., Clegg, J. B. <strong>Non-deletion haemoglobin H disease in Papua New Guinea.</strong> J. Med. Genet. 24: 767-771, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892939</a>] [<a href="https://doi.org/10.1136/jmg.24.12.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892939">Hill et al. (1987)</a> described a unique nondeletion form of Hb H disease in Papua New Guinea: all 4 alpha genes were intact. <a href="#160" class="mim-tip-reference" title="Hill, A. V. S., Thein, S. L., Mavo, B., Weatherall, D. J., Clegg, J. B. <strong>Non-deletion haemoglobin H disease in Papua New Guinea.</strong> J. Med. Genet. 24: 767-771, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892939</a>] [<a href="https://doi.org/10.1136/jmg.24.12.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892939">Hill et al. (1987)</a> commented on the striking difference in the hemoglobinopathies that occur in Southeast Asia and in Melanesia. In the former area, Hb E, Hb Constant Spring, and the Southeast Asian form of deletion alpha-0-thalassemia are all common, whereas these forms have never been found in Melanesians or Polynesians. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#184" class="mim-tip-reference" title="Jarman, A. P., Higgs, D. R. <strong>A new hypervariable marker for the human alpha-globin gene cluster.</strong> Am. J. Hum. Genet. 43: 249-256, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2901223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2901223</a>]" pmid="2901223">Jarman and Higgs (1988)</a> identified a highly polymorphic region approximately 100 kb upstream of the alpha-globin genes and referred to it as 5-prime HVR. This is a valuable genetic marker for 16p. <a href="#157" class="mim-tip-reference" title="Higgs, D. R., Vickers, M. A., Wilkie, A. O. M., Pretorius, I.-M., Jarman, A. P., Weatherall, D. J. <strong>A review of the molecular genetics of the alpha-globin gene cluster.</strong> Blood 73: 1081-1104, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2649166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2649166</a>]" pmid="2649166">Higgs et al. (1989)</a> gave a comprehensive review of the molecular genetics of the alpha-globin gene cluster, including its diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2901223+2649166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#147" class="mim-tip-reference" title="Hatton, C. S. R., Wilkie, A. O. M., Drysdale, H. C., Wood, W. G., Vickers, M. A., Sharpe, J., Ayyub, H., Pretorius, I. M., Buckle, V. J., Higgs, D. R. <strong>Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha-globin gene cluster.</strong> Blood 76: 221-227, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2364173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2364173</a>]" pmid="2364173">Hatton et al. (1990)</a> presented evidence for the existence of an alpha-locus control region (LCRA; <a href="/entry/152422">152422</a>). This would be comparable to the beta-LCR which controls expression of the beta-like genes; see <a href="/entry/152424">152424</a>. <a href="#232" class="mim-tip-reference" title="Liebhaber, S. A., Griese, E.-U., Weiss, I., Cash, F. E., Ayyub, H., Higgs, D. R., Horst, J. <strong>Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.</strong> Proc. Nat. Acad. Sci. 87: 9431-9435, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1701260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1701260</a>] [<a href="https://doi.org/10.1073/pnas.87.23.9431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1701260">Liebhaber et al. (1990)</a> identified an individual with alpha-thalassemia in whom structurally normal alpha-globin genes were inactivated in cis by a discrete de novo 35-kb deletion located about 30 kb 5-prime to the alpha-globin gene cluster. They concluded that the deletion inactivates expression of the alpha-globin genes by removing one or more of the previously identified upstream regulatory sequences that are critical to expression of the alpha-globin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2364173+1701260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Hemoglobinopathies of alpha-globin can result from missense mutations at either of the 2 alpha-globin loci, HBA1 or HBA2. Since the normal HBA1 and HBA2 genes encode an identical alpha globin, these mutants cannot be assigned to their specific loci on the basis of protein structural analysis. A clue to the encoding locus, HBA1 versus HBA2, is provided by the relative concentration of the alpha-globin mutant in the erythrocyte based on the 2- to 3-fold higher level of expression of the HBA2 gene (<a href="#228" class="mim-tip-reference" title="Liebhaber, S. A., Cash, F. E., Ballas, S. K. <strong>Human alpha-globin gene expression: the dominant role of the alpha(2)-locus in mRNA and protein synthesis.</strong> J. Biol. Chem. 261: 15327-15333, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3771577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3771577</a>]" pmid="3771577">Liebhaber et al., 1986</a>). However, since variables such as protein stability, efficiency of hemoglobin tetramer formation, and other factors can affect the steady-state levels of globin mutants, a definitive locus assignment must be directly determined. <a href="#60" class="mim-tip-reference" title="Cash, F. E., Monplaisir, N., Goossens, M., Liebhaber, S. A. <strong>Locus assignment of two alpha-globin structural mutants from the Caribbean Basin: alpha Fort de France (alpha(45-arg)) and alpha Spanish Town (alpha(27-val)).</strong> Blood 74: 833-835, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752146</a>]" pmid="2752146">Cash et al. (1989)</a> quantitated the expression of 2 alpha-globin structural mutants found in the Caribbean basin, Fort de France and Spanish Town, and showed that they are HBA1 and HBA2 mutants, respectively, on the basis of low or high expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3771577+2752146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#413" class="mim-tip-reference" title="Wilkie, A. O. M., Higgs, D. R., Rack, K. A., Buckle, V. J., Spurr, N. K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W. R. A., Harris, P. C. <strong>Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.</strong> Cell 64: 595-606, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1991321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1991321</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90243-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1991321">Wilkie et al. (1991)</a> described major polymorphic length variation in the terminal region of 16p (16p13.3) by physically linking the alpha-globin locus with probes to telomere-associated repeats. They found 3 alleles in which the alpha-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The 2 most common alleles were found to contain different terminal segments, starting 145 kb distal to the alpha-globin genes. Beyond this boundary these alleles are nonhomologous, yet each contains sequences related to other, different chromosome termini. This chromosome-size polymorphism probably arose by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes. <a href="#413" class="mim-tip-reference" title="Wilkie, A. O. M., Higgs, D. R., Rack, K. A., Buckle, V. J., Spurr, N. K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W. R. A., Harris, P. C. <strong>Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.</strong> Cell 64: 595-606, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1991321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1991321</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90243-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1991321">Wilkie et al. (1991)</a> raised the possibility that the high frequency of trisomy 16 may be related to this nonhomology of the 2 common 16pter alleles in their subtelomeric region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1991321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#172" class="mim-tip-reference" title="Huisman, T. H. J., Carver, M. F. H., Efremov, G. D. <strong>A syllabus of human hemoglobin variants (1996).</strong> Augusta, Ga.: The Sickle Cell Anemia Foundation (pub.) 1996."None>Huisman et al. (1996)</a> found that of the 141 codons of the alpha-globin genes (there are no sequence differences between the coding regions of the alpha-2 and alpha-1 genes), as many as 99 have been found to be mutated; for several, 3 or 4 mutations have been discovered, while 5 mutations are known for codons 23, 75, and 94, and 6 for codon 141. The mutations appear to occur at random; thus, either one of the 3 bases are replaced in the 199 known alpha-globin gene mutants.</p><p>The suggestion that alpha(+)-thalassemia has achieved a high frequency in some populations as a result of selection by malaria is based on a number of epidemiologic studies. In the southwest Pacific region, there is a striking geographic correlation between the frequency of alpha(+)-thalassemia and the endemicity of Plasmodium falciparum. <a href="#14" class="mim-tip-reference" title="Allen, S. J., O'Donnell, A., Alexander, N. D. E., Alpers, M. P., Peto, T. E. A., Clegg, J. B., Weatherall, D. J. <strong>Alpha(+)-thalassemia protects children against disease caused by other infections as well as malaria.</strong> Proc. Nat. Acad. Sci. 94: 14736-14741, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9405682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9405682</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9405682[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.26.14736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9405682">Allen et al. (1997)</a> undertook a prospective case-control study of children with severe malaria on the north coast of Papua New Guinea, where malaria transmission is intense and alpha(+)-thalassemia affects more than 90% of the population (homozygotes comprise approximately 55% and heterozygotes 37% of the population). Compared with normal children, the risk of having severe malaria was 0.40 in alpha(+)-thalassemia homozygotes and 0.66 in heterozygotes. Unexpectedly, the risk of hospital admission with infections other than malaria also was reduced to a similar degree in homozygotes (0.36) and heterozygotes (0.63). This clinical study demonstrated that a malaria resistance gene protects against disease caused by infections other than malaria. A reduction in mortality greater than that attributable directly to malaria had been observed after the prevention of malaria by insecticides, chemoprophylaxis, and insecticide-impregnated bed nets. Previous observations that direct malaria mortality cannot account for observed hemoglobin S gene frequencies suggest that the findings of this study may apply equally to other malaria resistance genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9405682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#108" class="mim-tip-reference" title="Fung, T. Y., Kin, L. T., Kong, L. C., Keung, L. C. <strong>Homozygous alpha-thalassemia associated with hypospadias in three survivors.</strong> Am. J. Med. Genet. 82: 225-227, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10215545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10215545</a>]" pmid="10215545">Fung et al. (1999)</a> reported 3 cases of homozygous alpha-thalassemia who survived beyond the newborn period, all with hypospadias. Review of the literature identified 2 additional cases. <a href="#108" class="mim-tip-reference" title="Fung, T. Y., Kin, L. T., Kong, L. C., Keung, L. C. <strong>Homozygous alpha-thalassemia associated with hypospadias in three survivors.</strong> Am. J. Med. Genet. 82: 225-227, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10215545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10215545</a>]" pmid="10215545">Fung et al. (1999)</a> suggested that the hypospadias may have been secondary to the in utero edema leading to failure of fusion of urogenital folds or due to defect or deletion of another gene at 16p13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10215545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a review of hydrops fetalis caused by alpha-thalassemia, see <a href="#63" class="mim-tip-reference" title="Chui, D. H. K., Waye, J. S. <strong>Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem.</strong> Blood 91: 2213-2222, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9516118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9516118</a>]" pmid="9516118">Chui and Waye (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9516118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From work on the mouse model of alpha-thalassemia, <a href="#214" class="mim-tip-reference" title="Leder, A., Wiener, E., Lee, M. J., Wickramasinghe, S. N., Leder, P. <strong>A normal beta-globin allele as a modifier gene ameliorating the severity of alpha-thalassemia in mice.</strong> Proc. Nat. Acad. Sci. 96: 6291-6295, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10339580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10339580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10339580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.11.6291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10339580">Leder et al. (1999)</a> demonstrated that a normal beta-globin allele can act as a modifying gene ameliorating the severity of alpha-thalassemia. They found that the phenotype of alpha-thalassemia was strongly influenced by the genetic background in which the mutation resided; when both mutant genes were on a chromosome derived from strain 129, the phenotype was severe, whereas it was mild when the gene was on a 129 chromosome and a C57BL/6 chromosome. Linkage mapping indicated that the modifying gene is very tightly linked to the beta-globin locus (lod score = 13.3). Furthermore, the severity of the phenotype correlated with the size of beta-globin-containing inclusion bodies, which accumulate in red blood cells and likely accelerate their destruction. The beta-major globin chains encoded by the 2 strains differed by 3 amino acids, one of which is a glycine-to-cysteine substitution at position 13. The cys13 should be available for interchain disulfide bridging and consequent aggregation between excess beta chains. This normal polymorphic variation between murine beta-globin chains could account for the modifying action of the unlinked beta-globin locus. Here, the variation in severity of the phenotype would not depend on a change in the ratio between alpha and beta chains but on the chemical nature of the normal beta chain, which is in excess. This work also indicated that modifying genes can be normal variants that, absent an apparent physiologic rationale, may be difficult to identify on the basis of structure alone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10339580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#81" class="mim-tip-reference" title="De Gobbi, M., Viprakasit, V., Hughes, J. R., Fisher, C., Buckle, V. J., Ayyub, H., Gibbons, R. J., Vernimmen, D., Yoshinaga, Y., de Jong, P., Cheng, J.-F., Rubin, E. M., Wood, W. G., Bowden, D., Higgs, D. R. <strong>A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.</strong> Science 312: 1215-1217, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728641</a>] [<a href="https://doi.org/10.1126/science.1126431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16728641">De Gobbi et al. (2006)</a> identified a pathogenetic mechanism underlying a variant form of the inherited blood disorder alpha-thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, <a href="#81" class="mim-tip-reference" title="De Gobbi, M., Viprakasit, V., Hughes, J. R., Fisher, C., Buckle, V. J., Ayyub, H., Gibbons, R. J., Vernimmen, D., Yoshinaga, Y., de Jong, P., Cheng, J.-F., Rubin, E. M., Wood, W. G., Bowden, D., Higgs, D. R. <strong>A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.</strong> Science 312: 1215-1217, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728641</a>] [<a href="https://doi.org/10.1126/science.1126431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16728641">De Gobbi et al. (2006)</a> identified a gain-of-function regulatory single-nucleotide polymorphism (rSNP) (<a href="#0218">141800.0218</a>) in a nongenic region between the alpha-globin genes and their upstream regulatory elements. The rSNP creates a new promoter-like element that interferes with normal activation of all downstream alpha-like globin genes. <a href="#81" class="mim-tip-reference" title="De Gobbi, M., Viprakasit, V., Hughes, J. R., Fisher, C., Buckle, V. J., Ayyub, H., Gibbons, R. J., Vernimmen, D., Yoshinaga, Y., de Jong, P., Cheng, J.-F., Rubin, E. M., Wood, W. G., Bowden, D., Higgs, D. R. <strong>A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.</strong> Science 312: 1215-1217, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728641</a>] [<a href="https://doi.org/10.1126/science.1126431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16728641">De Gobbi et al. (2006)</a> concluded that their work illustrates a strategy for distinguishing between neutral and functionally important rSNPs, and it also identifies a pathogenetic mechanism that could potentially underlie other genetic diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16728641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#337" class="mim-tip-reference" title="Schoenfelder, S., Sexton, T., Chakalova, L., Cope, N. F., Horton, A., Andrews, S., Kurukuti, S., Mitchell, J. A., Umlauf, D., Dimitrova, D. S., Eskiw, C. H., Luo, Y., Wei, C.-L., Ruan, Y., Bieker, J. J., Fraser, P. <strong>Preferential associations between co-regulated genes reveal a transcription interactome in erythroid cells.</strong> Nature Genet. 42: 53-61, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20010836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20010836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20010836[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20010836">Schoenfelder et al. (2010)</a> found that mouse Hbb and Hba associated with hundreds of active genes from nearly all chromosomes in nuclear foci that they called 'transcription factories.' The 2 globin genes preferentially associated with a specific and partially overlapping subset of active genes. <a href="#337" class="mim-tip-reference" title="Schoenfelder, S., Sexton, T., Chakalova, L., Cope, N. F., Horton, A., Andrews, S., Kurukuti, S., Mitchell, J. A., Umlauf, D., Dimitrova, D. S., Eskiw, C. H., Luo, Y., Wei, C.-L., Ruan, Y., Bieker, J. J., Fraser, P. <strong>Preferential associations between co-regulated genes reveal a transcription interactome in erythroid cells.</strong> Nature Genet. 42: 53-61, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20010836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20010836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20010836[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20010836">Schoenfelder et al. (2010)</a> also noted that expression of the Hbb locus is dependent upon Klf1 (<a href="/entry/600599">600599</a>), while expression of the Hba locus is only partially dependent on Klf1. Immunofluorescence analysis of mouse erythroid cells showed that most Klf1 localized to the cytoplasm and that nuclear Klf1 was present in discrete sites that overlapped with RNAII foci. Klf1 knockout in mouse erythroid cells specifically disrupted the association of Klf1-regulated genes within the Hbb-associated network. Klf1 knockout more weakly disrupted interactions within the specific Hba network. <a href="#337" class="mim-tip-reference" title="Schoenfelder, S., Sexton, T., Chakalova, L., Cope, N. F., Horton, A., Andrews, S., Kurukuti, S., Mitchell, J. A., Umlauf, D., Dimitrova, D. S., Eskiw, C. H., Luo, Y., Wei, C.-L., Ruan, Y., Bieker, J. J., Fraser, P. <strong>Preferential associations between co-regulated genes reveal a transcription interactome in erythroid cells.</strong> Nature Genet. 42: 53-61, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20010836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20010836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20010836[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20010836">Schoenfelder et al. (2010)</a> concluded that transcriptional regulation involves a complex 3-dimensional network rather than factors acting on single genes in isolation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20010836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>N.B.: Alpha-globin variants for which it is unknown whether HBA1 or HBA2 is involved have arbitrarily been included in this entry. <a href="#59" class="mim-tip-reference" title="Carver, M. F. H., Kutlar, A. <strong>International Hemoglobin Information Center: variant list.</strong> Hemoglobin 19: 37-149, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7615401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7615401</a>]" pmid="7615401">Carver and Kutlar (1995)</a> listed 191 alpha-globin variants as of January 1995. The syllabus by <a href="#172" class="mim-tip-reference" title="Huisman, T. H. J., Carver, M. F. H., Efremov, G. D. <strong>A syllabus of human hemoglobin variants (1996).</strong> Augusta, Ga.: The Sickle Cell Anemia Foundation (pub.) 1996."None>Huisman et al. (1996)</a> listed 199 alpha-chain hemoglobin variants as of January 1996. These included single-base mutations in the alpha-2 and alpha-1 genes as well as 2-base mutations. Not included in their syllabus were deletions in mutations that result in alpha-thalassemia, even if such a change (point mutation or frameshift) occurred in one of the coding regions of the gene. Information about the alpha-thalassemias was provided by <a href="#157" class="mim-tip-reference" title="Higgs, D. R., Vickers, M. A., Wilkie, A. O. M., Pretorius, I.-M., Jarman, A. P., Weatherall, D. J. <strong>A review of the molecular genetics of the alpha-globin gene cluster.</strong> Blood 73: 1081-1104, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2649166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2649166</a>]" pmid="2649166">Higgs et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7615401+2649166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016986" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016986" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016986</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#129" class="mim-tip-reference" title="Harano, K., Harano, T., Shibata, S., Mori, H., Ueda, S., Imai, K., Ohba, Y., Irimajiri, K. <strong>Hb J Oxford (alpha15 (A13) gly-to-asp) in Japan.</strong> Hemoglobin 8: 197-198, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6469697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6469697</a>] [<a href="https://doi.org/10.3109/03630268408991714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6469697">Harano et al. (1984)</a> and <a href="#29" class="mim-tip-reference" title="Baudin, V., Baklouti, F., Wajcman, H., Delaunay, J. <strong>Hemoglobin Aichi (alpha50 (CE8) his-to-arg) in a French Caucasian patient.</strong> Hemoglobin 11: 145-149, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3623974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3623974</a>] [<a href="https://doi.org/10.3109/03630268709005789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3623974">Baudin et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6469697+3623974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 HEMOGLOBIN ALBANY-GEORGIA</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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HEMOGLOBIN ALBANY-SUMA
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS11ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281860646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860646;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281860646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281860646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016987 OR RCV000016988" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016987, RCV000016988" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016987...</a>
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</span>
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<span class="mim-text-font">
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<p>This was found in a clinically normal black female in Albany, Georgia (<a href="#410" class="mim-tip-reference" title="Webber, B. B., Lam, H., Wilson, J. B., Huisman, T. H. J. <strong>Hb Albany-GA or alpha11(A9)lys-to-asn.</strong> Hemoglobin 7: 257-262, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6860428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6860428</a>] [<a href="https://doi.org/10.3109/03630268309048654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6860428">Webber et al., 1983</a>). See also <a href="#350" class="mim-tip-reference" title="Shimasaki, S., Iuchi, I., Hidaka, K., Mizuta, W. <strong>The survey of abnormal hemoglobin in Kobe district.</strong> Jpn. J. Hum. Genet. 28: 127-128, 1983."None>Shimasaki et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6860428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 HEMOGLOBIN ANANTHARAJ</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS11GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33938574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33938574;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33938574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33938574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016989" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016989" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016989</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#299" class="mim-tip-reference" title="Pootrakul, S., Kematorn, B., Na-Nakorn, S., Suanpan, S. <strong>A new haemoglobin variant. Haemoglobin Anantharaj (alpha 11 (A9) lysine-to-glutamic acid).</strong> Biochim. Biophys. Acta 405: 161-166, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1174563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1174563</a>] [<a href="https://doi.org/10.1016/0005-2795(75)90326-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1174563">Pootrakul et al. (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1174563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 HEMOGLOBIN ANN ARBOR</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU80ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34071856 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34071856;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34071856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34071856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016990" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016990" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016990</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#5" class="mim-tip-reference" title="Adams, J. G., III, Winter, W. P., Rucknagel, D. L., Spencer, H. H. <strong>Biosynthesis of hemoglobin Ann Arbor: evidence for catabolic and feedback regulation.</strong> Science 176: 1427-1429, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5033650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5033650</a>] [<a href="https://doi.org/10.1126/science.176.4042.1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5033650">Adams et al. (1972)</a> and <a href="#6" class="mim-tip-reference" title="Adams, J. G., III. <strong>Hemoglobin Ann Arbor: disturbance in the coordinated biosynthesis of globin chains?</strong> Ann. N.Y. Acad. Sci. 241: 232-241, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4530655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4530655</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1974.tb21881.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4530655">Adams (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5033650+4530655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 HEMOGLOBIN ARYA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP47ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34269448 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34269448;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34269448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34269448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016991 OR RCV001811174" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016991, RCV001811174" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016991...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#313" class="mim-tip-reference" title="Rahbar, S., Mahdavi, N., Nowzari, G., Mostafavi, I. <strong>Hemoglobin Arya: alpha 47, aspartic acid to asparagine.</strong> Biochim. Biophys. Acta 386: 525-529, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1138883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1138883</a>] [<a href="https://doi.org/10.1016/0005-2795(75)90295-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1138883">Rahbar et al. (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1138883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 HEMOGLOBIN ATAGO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP85TYR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33915947 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33915947;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33915947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33915947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016992" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016992" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016992</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#107" class="mim-tip-reference" title="Fujiwara, N. <strong>An amino acid substitution in Hb Atago, an abnormal human hemoglobin.</strong> J. Jpn. Biochem. Soc. 42: 341-349, 1970."None>Fujiwara (1970)</a> and <a href="#106" class="mim-tip-reference" title="Fujiwara, N., Maekawa, T., Matsuda, G. <strong>Hemoglobin Atago (alpha 85 tyr): a new abnormal human hemoglobin found in Nagasaki.</strong> Int. J. Protein Res. 3: 35-39, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5115619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5115619</a>]" pmid="5115619">Fujiwara et al. (1971)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5115619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 HEMOGLOBIN ATTLEBORO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, SER138PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34011123 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34011123;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34011123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34011123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750801 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750801;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016993" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016993" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016993</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#252" class="mim-tip-reference" title="McDonald, M. J., Michalski, L. A., Turci, S. M., Guillette, R. A., Jue, D. L., Johnson, M. H., Moo-Penn, W. F. <strong>Structural, functional, and subunit assembly properties of Hb Attleboro [alpha138(H21)ser-to-pro], a variant possessing a site mutation at a critical C-terminal residue.</strong> Biochemistry 29: 173-178, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2108715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2108715</a>] [<a href="https://doi.org/10.1021/bi00453a023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2108715">McDonald et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2108715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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</div>
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<div>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 HEMOGLOBIN AZTEC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, MET76THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33969953 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33969953;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33969953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33969953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016994" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016994" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016994</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#344" class="mim-tip-reference" title="Shelton, J. B., Shelton, J. R., Schroeder, W. A., Powars, D. R. <strong>Hb Aztec or alpha76(EF5) met-to-thr: detection of a silent mutant by high performance liquid chromatography.</strong> Hemoglobin 9: 325-332, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3935608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3935608</a>] [<a href="https://doi.org/10.3109/03630268508997008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3935608">Shelton et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3935608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 HEMOGLOBIN BARI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS45GLN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281860685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860685;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281860685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281860685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016995" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016995" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016995</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#244" class="mim-tip-reference" title="Marinucci, M., Mavilio, F., Tentori, L., D'Erasmo, F., Colapietro, A., De Stasio, G., Di Fonzo, S. <strong>A new human hemoglobin variant: Hb Bari (alpha 45(CD3) his-to-gln).</strong> Biochim. Biophys. Acta 622: 315-319, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7378457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7378457</a>] [<a href="https://doi.org/10.1016/0005-2795(80)90042-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7378457">Marinucci et al. (1980)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7378457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 HEMOGLOBIN BEIJING</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS16ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281860648 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860648;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs281860648?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281860648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281860648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016996" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016996" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016996</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#222" class="mim-tip-reference" title="Liang, C.-C., Chen, S., Yang, K., Jia, P., Ma, Y., Li, T., Ni, X., Wang, X., Deng, Q., Yao, S. <strong>Hemoglobin Beijing (alpha16 (A14) lys-to-asn): a new fast-moving hemoglobin variant.</strong> Hemoglobin 6: 629-633, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7161110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7161110</a>]" pmid="7161110">Liang et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7161110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0011" class="mim-anchor"></a>
|
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<h4>
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<span class="mim-font">
|
|
<strong>.0011 HEMOGLOBIN BIBBA</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU136PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34635364 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34635364;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34635364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34635364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41469945 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41469945;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41469945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41469945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000203221 OR RCV000626695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203221, RCV000626695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203221...</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>See <a href="#198" class="mim-tip-reference" title="Kleihauer, E. F., Reynolds, C. A., Dozy, A. M., Wilson, J. B., Moores, R. R., Berenson, M. P., Wright, C. S., Huisman, T. H. J. <strong>Hemoglobin Bibba or alpha(2)136 pro beta(2), an unstable alpha chain abnormal hemoglobin.</strong> Biochim. Biophys. Acta 154: 220-221, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5639009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5639009</a>] [<a href="https://doi.org/10.1016/0005-2795(68)90274-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5639009">Kleihauer et al. (1968)</a>. (This is actually an allelic variant of the HBA2 gene; see <a href="/entry/141850#0030">141850.0030</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5639009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0012" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<strong>.0012 HEMOGLOBIN BOURMEDES</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PRO37ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35776155 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35776155;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35776155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35776155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016998" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016998" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016998</a>
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#77" class="mim-tip-reference" title="Dahmane-Arbane, M., Blouquit, Y., Arous, N., Bardakdjian, J., Benamani, M., Riou, J., Benabadji, M., Rosa, J., Galacteros, F. <strong>Hemoglobine Boumerdes alpha-37 (C2) pro-to-arg: un nouveau variant de la chaine alpha associe a l'hemoglobine S dans une famille algerienne.</strong> Nouv. Rev. Franc. Hemat. 29: 317-320, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3438164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3438164</a>]" pmid="3438164">Dahmane-Arbane et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3438164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0013 MOVED TO <a href="/entry/141850#0018">141850.0018</a></strong>
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<a id="0014" class="mim-anchor"></a>
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<strong>.0014 HEMOGLOBIN BROUSSAIS</strong>
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HEMOGLOBIN J (BROUSSAIS)<br />
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HEMOGLOBIN TAGAWA I
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HBA1, LYS90ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33914470 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33914470;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33914470?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33914470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33914470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016999 OR RCV000017000 OR RCV000017001 OR RCV001811175" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016999, RCV000017000, RCV000017001, RCV001811175" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016999...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#82" class="mim-tip-reference" title="de Traverse, P. M., Lehmann, H., Coquelet, M. L., Beale, D., Isaacs, W. A. <strong>Etude d'une hemoglobine J-alpha non encore decrite, dans une famille francaise.</strong> C. R. Seances Soc. Biol. Fil. 160: 2270-2272, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4228361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4228361</a>]" pmid="4228361">de Traverse et al. (1966)</a>, <a href="#420" class="mim-tip-reference" title="Yanase, T., Hanada, M., Seita, M., Ohya, I., Ohta, Y., Imamura, T., Fujimura, T., Kawasaki, K., Yamaoka, K. <strong>Molecular basis of morbidity from a series of studies of hemoglobinopathies in western Japan.</strong> Jpn. J. Hum. Genet. 13: 40-53, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5750181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5750181</a>]" pmid="5750181">Yanase et al. (1968)</a>, <a href="#383" class="mim-tip-reference" title="Vella, F., Charlesworth, D., Lorkin, P. A., Lehmann, H. <strong>Hemoglobin Broussais: alpha 90 lys replaced by asn.</strong> Canad. J. Biochem. 48: 908-910, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5452727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5452727</a>]" pmid="5452727">Vella et al. (1970)</a>, and <a href="#101" class="mim-tip-reference" title="Fleming, P. J., Arnold, B. J., Thompson, E. O. P., Hughes, W. G., Morgan, L. <strong>Hb I alpha 16 lys-to-glu and Hb Broussais alpha 90 lys-to-asn in Australian families.</strong> Pathology 10: 317-327, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/740406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">740406</a>] [<a href="https://doi.org/10.3109/00313027809063520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="740406">Fleming et al. (1978)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5452727+740406+5750181+4228361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 HEMOGLOBIN CATONSVILLE</strong>
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</span>
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</h4>
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<div style="float: left;">
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HBA1, INS GLU, PRO37/GLU/THR38
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34667595 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34667595;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34667595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34667595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017002" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017002" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017002</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#388" class="mim-tip-reference" title="Virshup, D. M., Zinkham, W. H., Hine, T., Baine, R. M., Jue, D. L., Moo-Penn, W. F. <strong>Hemoglobin Catonsville: an unstable, high affinity variant with an insertion of glutamic acid between residues 37(pro) and 38 (thr) in the alpha chain. (Abstract)</strong> Blood 72 (suppl.): 75a, 1988."None>Virshup et al. (1988)</a>. <a href="#264" class="mim-tip-reference" title="Moo-Penn, W. F., Swan, D. C., Hine, T. K., Baine, R. M., Jue, D. L., Benson, J. M., Johnson, M. H., Virshup, D. M., Zinkham, W. H. <strong>Hb Catonsville (glutamic acid inserted between pro-37 (C2) alpha and thr-38 (C3) alpha).</strong> J. Biol. Chem. 264: 21454-21457, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574721</a>]" pmid="2574721">Moo-Penn et al. (1989)</a> identified insertion of a glutamic acid residue between proline-37 and threonine-38 in an unstable hemoglobin variant. The PCR-amplified fragment of the variant gene showed insertion of a GAA codon. In the normal alpha-globin gene cluster, GAG is the codon for glutamic acid. <a href="#264" class="mim-tip-reference" title="Moo-Penn, W. F., Swan, D. C., Hine, T. K., Baine, R. M., Jue, D. L., Benson, J. M., Johnson, M. H., Virshup, D. M., Zinkham, W. H. <strong>Hb Catonsville (glutamic acid inserted between pro-37 (C2) alpha and thr-38 (C3) alpha).</strong> J. Biol. Chem. 264: 21454-21457, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574721</a>]" pmid="2574721">Moo-Penn et al. (1989)</a> suggested that this mutation may have resulted from nonhomologous nonallelic gene conversion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2574721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 HEMOGLOBIN CHAD</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU23LYS
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33939620 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33939620;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33939620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33939620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017003" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017003" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017003</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#45" class="mim-tip-reference" title="Boyer, S. H., Crosby, E. F., Fuller, G. F., Ulenurm, L., Buck, A. A. <strong>A survey of hemoglobins in the Republic of Chad and characterization of hemoglobin Chad: alpha 23 glu-to-lys.</strong> Am. J. Hum. Genet. 20: 570-578, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5714528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5714528</a>]" pmid="5714528">Boyer et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5714528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<a id="0017" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0017 HEMOGLOBIN CHAPEL HILL</strong>
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</span>
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</h4>
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</div>
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HBA1, ASP74GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33921047 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33921047;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33921047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33921047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017004" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017004" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017004</a>
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</span>
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<p>See <a href="#289" class="mim-tip-reference" title="Orringer, E. P., Wilson, J. B., Huisman, T. H. J. <strong>Hemoglobin Chapel Hill or alpha 74 asp-to-gly.</strong> FEBS Lett. 65: 297-300, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8332</a>] [<a href="https://doi.org/10.1016/0014-5793(76)80133-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8332">Orringer et al. (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0018" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0018 HEMOGLOBIN CHESAPEAKE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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</span>
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<div>
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<span class="mim-text-font">
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HBA1, ARG92LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991779 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991779;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017005 OR RCV000641142" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017005, RCV000641142" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017005...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#66" class="mim-tip-reference" title="Clegg, J. B., Naughton, M. A., Weatherall, D. J. <strong>Abnormal human haemoglobins: separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, Hb Chesapeake and Hb J (Bangkok).</strong> J. Molec. Biol. 19: 91-108, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5967288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5967288</a>] [<a href="https://doi.org/10.1016/s0022-2836(66)80052-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5967288">Clegg et al. (1966)</a> and <a href="#134" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong> Hemoglobin 7: 85-90, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188720</a>] [<a href="https://doi.org/10.3109/03630268309038404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188720">Harano et al. (1983)</a>. Polycythemia (ECYT7; <a href="/entry/617981">617981</a>) is the only clinical feature. This was the first polycythemia-producing variant to be described (<a href="#61" class="mim-tip-reference" title="Charache, S., Weatherall, D. J., Clegg, J. B. <strong>Polycythemia associated with a hemoglobinopathy.</strong> J. Clin. Invest. 45: 813-822, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5913291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5913291</a>] [<a href="https://doi.org/10.1172/JCI105397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5913291">Charache et al., 1966</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6188720+5913291+5967288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0019" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0019 HEMOGLOBIN CHIAPAS</strong>
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HBA1, PRO114ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33910377 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33910377;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33910377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33910377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017006 OR RCV001283982" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017006, RCV001283982" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017006...</a>
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<p>See <a href="#186" class="mim-tip-reference" title="Jones, R. T., Brimhall, B., Lisker, R. <strong>Chemical characterization of hemoglobin Mexico and hemoglobin Chiapas.</strong> Biochim. Biophys. Acta 154: 488-495, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5650416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5650416</a>] [<a href="https://doi.org/10.1016/0005-2795(68)90008-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5650416">Jones et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5650416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0020" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0020 HEMOGLOBIN CHICAGO</strong>
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</h4>
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<span class="mim-text-font">
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HBA1, LEU136MET
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913127;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41364652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41364652;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41364652?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41364652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41364652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017007" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017007" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017007</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#44" class="mim-tip-reference" title="Bowman, J. E., Bloom, R., Chen, S. S., Webber, B. B., Wilson, J. B., Kutlar, F., Kutlar, A., Huisman, T. H. J. <strong>Hb Chicago or alpha136 (H19) leu-to-met and a G-gamma-G-gamma-globin gene arrangement in a black family.</strong> Hemoglobin 10: 495-505, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3781866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3781866</a>] [<a href="https://doi.org/10.3109/03630268609014134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3781866">Bowman et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3781866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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<div>
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<a id="0021" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0021 HEMOGLOBIN CHONGQING</strong>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU2ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs36030576 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36030576;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36030576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36030576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750585;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017008</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#427" class="mim-tip-reference" title="Zeng, Y., Huang, S., Qiu, X., Cheng, G., Ren, Z., Jin, Q., Chen, C., Jiao, C., Tang, Z., Liu, R., Bao, X., Zeng, L., Duan, Y., Zhang, G. <strong>Hemoglobin Chongqing (alpha2 (NA2) leu-to-arg) and hemoglobin Harbin (alpha16 (A14) lys-to-met) found in China.</strong> Hemoglobin 8: 569-581, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6526652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6526652</a>] [<a href="https://doi.org/10.3109/03630268408991742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6526652">Zeng et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6526652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0022" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0022 HEMOGLOBIN CONTALDO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS103ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35329201 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35329201;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35329201?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35329201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35329201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750752 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750752;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017009" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017009" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017009</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Unstable hemoglobin due to disruption of hydrogen bond between alpha 103 (his) and beta 108 (asn) (<a href="#341" class="mim-tip-reference" title="Sciarratta, G. V., Ivaldi, G., Molaro, G. L., Sansone, G., Salkie, M. L., Wilson, J. B., Reese, A. L., Huisman, T. H. J. <strong>The characterization of hemoglobin Manitoba or alpha(2)102(G9)ser-to-arg and hemoglobin Contaldo or alpha(2)103(G10)his-to-arg by high performance liquid chromatography.</strong> Hemoglobin 8: 169-181, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6547932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6547932</a>] [<a href="https://doi.org/10.3109/03630268408991710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6547932">Sciarratta et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6547932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0023" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0023 HEMOGLOBIN CORDELE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP47ALA
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33944368 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33944368;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33944368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33944368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017010" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017010" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017010</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#271" class="mim-tip-reference" title="Nakatsuji, T., Wilson, J. B., Huisman, T. H. J. <strong>Hb Cordele alpha47 (CE5) asp-to-ala, a mildly unstable variant observed in black twins.</strong> Hemoglobin 8: 37-46, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6547117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6547117</a>] [<a href="https://doi.org/10.3109/03630268408996959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6547117">Nakatsuji et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6547117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0024" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0024 HEMOGLOBIN DAGESTAN</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS60GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34259907 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34259907;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34259907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34259907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017011" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017011" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017011</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#359" class="mim-tip-reference" title="Spivak, V. A., Molchanova, T. P., Ermakov, N. V., Tokarev, Y. N., Martinez, G., Szelenyi, J., Horanyi, M., Foldi, J., Hollan, S., Kazieva, H., Shamov, I. A. <strong>A new hemoglobin variant: Hb Dagestan alpha60(E9) lys-to-glu.</strong> Hemoglobin 5: 133-138, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6783600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6783600</a>] [<a href="https://doi.org/10.3109/03630268108996919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6783600">Spivak et al. (1981)</a> and <a href="#209" class="mim-tip-reference" title="Lacombe, C., Soria, J., Arous, N., Blouquit, Y., Bardakdjian, J., Riou, J., Galacteros, F. <strong>A new case of Hb Dagestan (alpha60(E9) lys-to-glu).</strong> Hemoglobin 11: 39-41, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3108202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3108202</a>] [<a href="https://doi.org/10.3109/03630268709036580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3108202">Lacombe et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6783600+3108202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0025" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0025 MOVED TO <a href="/entry/141850#0075">141850.0075</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0026" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0026 HEMOGLOBIN DANESHGAH-TEHRAN</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS72ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35859529 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35859529;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35859529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35859529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017013" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017013" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017013</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#314" class="mim-tip-reference" title="Rahbar, S., Nowzari, G., Daneshmand, P. <strong>Hemoglobin Daneshgah-Tehran alpha 72 (EF1) histidine-to-arginine.</strong> Nature N.B. 245: 268-269, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4518991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4518991</a>] [<a href="https://doi.org/10.1038/newbio245268a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4518991">Rahbar et al. (1973)</a> and <a href="#83" class="mim-tip-reference" title="de Weinstein, B. I., Kutlar, A., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Hemoglobin Daneshgah-Tehran or alpha72(EF1)his-to-arg in an Argentinean family.</strong> Hemoglobin 9: 409-411, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3841101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3841101</a>] [<a href="https://doi.org/10.3109/03630268508997017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3841101">de Weinstein et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3841101+4518991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0027" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0027 HEMOGLOBIN DENMARK HILL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PRO95ALA
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33984621 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33984621;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33984621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33984621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017014" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017014" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017014</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>See <a href="#416" class="mim-tip-reference" title="Wiltshire, B. G., Clark, K. G. A., Lorkin, P. A., Lehmann, H. <strong>Haemoglobin Denmark Hill (alpha 95 (G2) pro-to-ala), a variant with unusual electrophoretic and oxygen-binding properties.</strong> Biochim. Biophys. Acta 278: 459-464, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5085669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5085669</a>] [<a href="https://doi.org/10.1016/0005-2795(72)90006-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5085669">Wiltshire et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5085669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0028" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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|
<strong>.0028 HEMOGLOBIN DUAN</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
|
|
HBA1, ASP75ALA
|
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991223 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991223;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017015" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017015" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017015</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>See Liang et al. (<a href="#221" class="mim-tip-reference" title="Liang, C., Tao, H., Lo, H., Huang, S., Li, R., Wang, B. <strong>Hemoglobin Shuangfeng (alpha27 (B8) glu-to-lys): a new unstable hemoglobin variant.</strong> Hemoglobin 5: 691-700, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338471</a>] [<a href="https://doi.org/10.3109/03630268108991837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7338471">1981</a>, <a href="#224" class="mim-tip-reference" title="Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y. J., Kutlar, F., Wilson, J. B., Webber, B. B., Hu, H., Huisman, T. H. J. <strong>Hb Duan (alpha-75(EF4)asp-to-ala), Hb Westmead (alpha-122(H5)his-to-gln), and alpha-thalassemia-2 (-4.2 kb deletion) in a Chinese family.</strong> Hemoglobin 12: 13-21, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384694</a>] [<a href="https://doi.org/10.3109/03630268808996878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3384694">1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7338471+3384694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0029" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>.0029 HEMOGLOBIN DUNN</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
|
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HBA1, ASP6ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33961916 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33961916;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33961916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33961916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017016" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017016" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017016</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#188" class="mim-tip-reference" title="Jue, D. L., Johnson, M. H., Patchen, L. C., Moo-Penn, W. F. <strong>Hemoglobin Dunn: alpha6 aspartic acid-to-asparagine.</strong> Hemoglobin 3: 137-143, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/478975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">478975</a>] [<a href="https://doi.org/10.3109/03630267908998909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="478975">Jue et al. (1979)</a> and <a href="#20" class="mim-tip-reference" title="Baklouti, F., Baudin-Chich, V., Kister, J., Marden, M., Teyssier, G., Poyart, C., Delaunay, J., Wajcman, H. <strong>Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire (alpha88 (F9) ala-to-ser).</strong> Europ. J. Biochem. 177: 307-312, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3142772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3142772</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14377.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3142772">Baklouti et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3142772+478975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0030" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0030 HEMOGLOBIN ETOBICOKE</strong>
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</h4>
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HBA1, SER84ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33926206 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33926206;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33926206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33926206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33996798 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33996798;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33996798?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33996798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33996798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017017" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017017" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017017</a>
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<p>See <a href="#75" class="mim-tip-reference" title="Crookston, J. H., Farquharson, H. A., Beale, D., Lehmann, H. <strong>Hemoglobin Etobicoke: alpha 84(F5) serine replaced by arginine.</strong> Canad. J. Biochem. 47: 143-146, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5774804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5774804</a>] [<a href="https://doi.org/10.1139/o69-023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5774804">Crookston et al. (1969)</a> and <a href="#150" class="mim-tip-reference" title="Headlee, M. G., Nakatsuji, T., Lam, H., Wrightstone, R. N., Huisman, T. H. J. <strong>Hb Etobicoke, alpha85(F5) ser-to-arg found in a newborn of French-Indian-English descent.</strong> Hemoglobin 7: 285-287, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6874377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6874377</a>] [<a href="https://doi.org/10.3109/03630268309048660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6874377">Headlee et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6874377+5774804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0031" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0031 HEMOGLOBIN EVANSTON</strong>
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</h4>
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</div>
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<div style="float: left;">
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HBA1, TRP14ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33964317 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33964317;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33964317?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33964317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33964317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002508127" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002508127" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002508127</a>
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</span>
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<p><a href="#164" class="mim-tip-reference" title="Honig, G. R., Shamsuddin, M., Vida, L. N., Mompoint, M., Bowie, L., Jones, E., Weil, S. <strong>Hb Evanston (alpha 14 trp-to-arg): a new variant with thalassemia-like hematologic expression. (Abstract)</strong> Blood 60: 53a, 1982."None>Honig et al. (1982)</a> first described Hb Evanston in 2 black families. See also <a href="#259" class="mim-tip-reference" title="Moo-Penn, W. F., Baine, R. M., Jue, D. L., Johnson, M. H., McGuffey, J. E., Benson, J. M. <strong>Hemoglobin Evanston: alpha14(A12) trp-to-arg--a variant hemoglobin associated with alpha-thalassemia-2.</strong> Biochim. Biophys. Acta 747: 65-70, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6882779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6882779</a>] [<a href="https://doi.org/10.1016/0167-4838(83)90122-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6882779">Moo-Penn et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6882779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#146" class="mim-tip-reference" title="Harteveld, C. L., Wijermans, P. W., de Ree, J. E. L. M., Ter Hal, P., Van Delft, P., Van Rooijen-Nijdam, I. H., Rasp, E., Kok, P. J. M. J., Souverijn, J. H. M., Versteegh, F. G. A., Giordano, P. C. <strong>A new Hb Evanston allele (alpha-14(A12)trp-to-arg) found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.</strong> Hemoglobin 28: 1-5, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008259</a>] [<a href="https://doi.org/10.1081/hem-120028881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15008259">Harteveld et al. (2004)</a> found this rare variant alone and in the presence of common alpha-thalassemia deletions in 3 independent Asian cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0032" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0032 HEMOGLOBIN FERNDOWN</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP6VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33986902 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33986902;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33986902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33986902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017019" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017019" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017019</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#215" class="mim-tip-reference" title="Lee-Potter, J. P., Deacon-Smith, R. A., Lehmann, H., Robb, L. <strong>Haemoglobin Ferndown (alpha6 aspartic acid-to-valine).</strong> FEBS Lett. 126: 117-119, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7238857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7238857</a>] [<a href="https://doi.org/10.1016/0014-5793(81)81047-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7238857">Lee-Potter et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7238857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0033" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0033 HEMOGLOBIN FONTAINEBLEAU</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA21PRO
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34324664 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34324664;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34324664?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34324664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34324664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017020" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017020" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017020</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#392" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Gombaud-Saintonge, G., Riou, J., Galacteros, F. <strong>HB Fontainebleau (alpha21(B2)ala-to-pro), a new silent mutant hemoglobin.</strong> Hemoglobin 13: 421-429, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599878</a>] [<a href="https://doi.org/10.3109/03630268908998081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2599878">Wajcman et al. (1989)</a> found this substitution in an Italian family. The substitution produced no change in the stability or oxygen binding properties of the hemoglobin molecule. The electrophoretic properties were, furthermore, identical to those of Hb A, with the exception of isoelectric focusing in which the variant migrated like Hb A1c. Hb J(Nyanza), another substitution at position alpha-21, likewise causes no hematologic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2599878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0034" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0034 HEMOGLOBIN FORT DE FRANCE</strong>
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</span>
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</h4>
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HBA1, HIS45ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928883 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928883;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017021" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017021" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017021</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#46" class="mim-tip-reference" title="Braconnier, F., Gacon, G., Thillet, J., Wajcman, H., Soria, J., Maigret, P., Labie, D., Rosa, J. <strong>Hemoglobin Fort de France (alpha 45(CD3) his replaced by arg beta-2): a new variant with increased oxygen affinity.</strong> Biochim. Biophys. Acta 493: 228-233, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18205</a>] [<a href="https://doi.org/10.1016/0005-2795(77)90276-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18205">Braconnier et al. (1977)</a>. <a href="#60" class="mim-tip-reference" title="Cash, F. E., Monplaisir, N., Goossens, M., Liebhaber, S. A. <strong>Locus assignment of two alpha-globin structural mutants from the Caribbean Basin: alpha Fort de France (alpha(45-arg)) and alpha Spanish Town (alpha(27-val)).</strong> Blood 74: 833-835, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752146</a>]" pmid="2752146">Cash et al. (1989)</a> confirmed that this is a mutant of the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18205+2752146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0035" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0035 HEMOGLOBIN G (AUDHALI)</strong>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU23VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33939421 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33939421;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33939421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33939421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017022" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017022" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017022</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#241" class="mim-tip-reference" title="Marengo-Rowe, A. J., Beale, D., Lehmann, H. <strong>New human hemoglobin variant from southern Arabia: G-Audhali (alpha-23(b4) glutamic acid-valine) and the variability of B4 in human haemoglobin.</strong> Nature 219: 1164-1166, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5675638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5675638</a>] [<a href="https://doi.org/10.1038/2191164b0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5675638">Marengo-Rowe et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5675638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<div>
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<a id="0036" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0036 MOVED TO <a href="/entry/141850#0014">141850.0014</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0037" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0037 HEMOGLOBIN G (FORT WORTH)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN FORT WORTH
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU27GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33964507 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33964507;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33964507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33964507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017023 OR RCV000017024" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017023, RCV000017024" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017023...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This variant was described in 2 black families. Unusually low (5%) concentration was found in heterozygotes, perhaps because of decreased ability of the abnormal alpha chain to form dimers with beta chains. See <a href="#335" class="mim-tip-reference" title="Schneider, R. G., Brimhall, B., Jones, R. T., Bryant, R., Mitchell, C. B., Goldberg, A. I. <strong>Hb Ft. Worth: alpha27glu-to-gly--a variant present in unusually low concentration.</strong> Biochim. Biophys. Acta 243: 164-169, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5122655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5122655</a>] [<a href="https://doi.org/10.1016/0005-2795(71)90072-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5122655">Schneider et al. (1971)</a> and <a href="#58" class="mim-tip-reference" title="Carstairs, K. C., Raulfs, A., Kutlar, A., Chen, S. S., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Hb Fort Worth or alpha(2)27(B8)glu-to-gly in a black family from Canada.</strong> Hemoglobin 9: 201-205, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839776</a>] [<a href="https://doi.org/10.3109/03630268508997005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839776">Carstairs et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3839776+5122655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0038" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0038 HEMOGLOBIN G (GEORGIA)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PRO95LEU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33931314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33931314;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33931314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33931314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017025 OR RCV000506137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017025, RCV000506137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017025...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#171" class="mim-tip-reference" title="Huisman, T. H. J., Adams, H. R., Wilson, J. B., Efremov, G. D., Reynolds, C. A., Wrightstone, R. N. <strong>Hemoglobin G Georgia or alpha 95 leu (G-2) beta 2.</strong> Biochim. Biophys. Acta 200: 578-580, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5436649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5436649</a>] [<a href="https://doi.org/10.1016/0005-2795(70)90117-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5436649">Huisman et al. (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5436649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0039" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0039 MOVED TO <a href="/entry/141850#0054">141850.0054</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0040" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0040 HEMOGLOBIN G (NORFOLK)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP85ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33915947 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33915947;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33915947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33915947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017026 OR RCV001800307" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017026, RCV001800307" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017026...</a>
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#68" class="mim-tip-reference" title="Cohen-Solal, M., Manesse, B., Thillet, J., Rosa, J. <strong>Haemoglobin G Norfolk alpha-85 (F6) asp-to-asn: structural characterization by sequenator analysis and functional properties of a new variant with high oxygen affinity.</strong> FEBS Lett. 50: 163-167, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/234399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">234399</a>] [<a href="https://doi.org/10.1016/0014-5793(75)80480-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="234399">Cohen-Solal et al. (1975)</a> and <a href="#236" class="mim-tip-reference" title="Lorkin, P. A., Huntsman, R. G., Ager, J. A. M., Lehmann, H., Vella, F., Dakbre, P. D. <strong>Hemoglobin G (Norfolk): alpha 85 (F6) asp-to-asn.</strong> Biochim. Biophys. Acta 379: 22-27, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1115797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1115797</a>] [<a href="https://doi.org/10.1016/0005-2795(75)90004-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1115797">Lorkin et al. (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=234399+1115797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0041" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0041 HEMOGLOBIN G (PEST)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP74ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928875;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017027 OR RCV001800308 OR RCV004586014" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017027, RCV001800308, RCV004586014" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017027...</a>
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<p>Hb G (Pest) and Hb J (Buda) (<a href="/entry/141850#0008">141850.0008</a>), both alpha-chain mutants, occurred together in a Hungarian male with erythrocytosis. The occurrence of some normal Hb A in this man showed the existence of at least 2 alpha loci. See Brimhall et al. (<a href="#53" class="mim-tip-reference" title="Brimhall, B., Hollan, S., Jones, R. T., Koler, R. D., Stocklen, Z., Szelenyi, J. G. <strong>Multiple alpha-chain loci for human hemoglobin. (Abstract)</strong> Clin. Res. 18: 184, 1970."None>1970</a>, <a href="#52" class="mim-tip-reference" title="Brimhall, B., Duerst, M., Hollan, S. R., Stenzel, P., Szelenyi, J., Jones, R. T. <strong>Structural characterizations of hemoglobins J-Buda (alpha 61 (E10) lys-to-asn) and G-Pest (alpha 74 (EF3) asp-to-asn).</strong> Biochim. Biophys. Acta 336: 344-360, 1974."None>1974</a>) and <a href="#161" class="mim-tip-reference" title="Hollan, S. R., Szelenyi, J. G., Brimhall, B., Duerst, M., Jones, R. T., Koler, R. D., Stocklen, Z. <strong>Multiple alpha chain loci for human haemoglobins: Hb J (Buda) and Hb G (Pest).</strong> Nature 235: 47-50, 1972."None>Hollan et al. (1972)</a>. Using polymerase chain reaction (PCR) to amplify selectively alpha-1 and alpha-2-globin cDNAs, <a href="#240" class="mim-tip-reference" title="Mamalaki, A., Horanyi, M., Szelenyi, J., Moschonas, N. K. <strong>Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha-1 and alpha-2-globin cDNAs.</strong> Hum. Genet. 85: 509-512, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2227935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2227935</a>] [<a href="https://doi.org/10.1007/BF00194226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2227935">Mamalaki et al. (1990)</a> then hybridized the cDNAs to synthetic oligonucleotides specific for either the normal or the mutated sequence. Using this approach, the alpha-globin structural mutants J-Buda and G-Pest were found to be encoded by the alpha-2 and the alpha-1-globin genes, respectively. The substitution in G-Pest was a change from GAC to AAC at codon 74. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2227935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0042 HEMOGLOBIN G (TAICHUNG)</strong>
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HEMOGLOBIN Q<br />
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HEMOGLOBIN Q (THAILAND)<br />
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HEMOGLOBIN MAHIDOL<br />
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HEMOGLOBIN ASABARA<br />
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HEMOGLOBIN KURASHIKI
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HBA1, ASP74HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928875;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017028 OR RCV000017029 OR RCV000017030 OR RCV000017031 OR RCV000017032 OR RCV000017033 OR RCV000417219 OR RCV000505861" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017028, RCV000017029, RCV000017030, RCV000017031, RCV000017032, RCV000017033, RCV000417219, RCV000505861" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017028...</a>
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<p>See <a href="#385" class="mim-tip-reference" title="Vella, F., Wells, R. H. C., Ager, J. A. M., Lehmann, H. <strong>A haemoglobinopathy involving haemoglobin H and a new (Q) haemoglobin.</strong> Brit. Med. J. 1: 752-755, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13510789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13510789</a>] [<a href="https://doi.org/10.1136/bmj.1.5073.752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13510789">Vella et al. (1958)</a>, <a href="#110" class="mim-tip-reference" title="Gammack, D. B., Huehns, E. R., Lehmann, H., Shooter, E. M. <strong>The abnormal polypeptide chains in a number of haemoglobin variants.</strong> Acta Genet. Statist. Med. 11: 1-16, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13703277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13703277</a>] [<a href="https://doi.org/10.1159/000151139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13703277">Gammack et al. (1961)</a>, Lie-Injo et al. (<a href="#226" class="mim-tip-reference" title="Lie-Injo, L. E., Pillay, R. P., Thuraisingham, V. <strong>Further cases of haemoglobin Q-H disease (Hb Q-alpha thalassemia).</strong> Blood 28: 830-839, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5960254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5960254</a>]" pmid="5960254">1966</a>, <a href="#225" class="mim-tip-reference" title="Lie-Injo, L. E., Dozy, A. M., Kan, Y. W., Lopes, M., Todd, D. <strong>The alpha-globin gene adjacent to the gene for Hb Q (alpha 74 asp-to-his) is deleted, but not that adjacent to the gene for Hb G (alpha 30 glu-to-gln); three-fourths of the alpha-globin genes are deleted in Hb Q-alpha-thalassemia.</strong> Blood 54: 1407-1416, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508945</a>]" pmid="508945">1979</a>); <a href="#40" class="mim-tip-reference" title="Blackwell, R. Q., Liu, C. S. <strong>Hemoglobin G Taichung: alpha74 asp-to-his.</strong> Biochim. Biophys. Acta 200: 70-75, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5410724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5410724</a>] [<a href="https://doi.org/10.1016/0005-2795(70)90044-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5410724">Blackwell and Liu (1970)</a>, <a href="#298" class="mim-tip-reference" title="Pootrakul, S., Dixon, G. H. <strong>Hemoglobin Mahidol: a new hemoglobin alpha-chain mutant.</strong> Canad. J. Biochem. 48: 1066-1078, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5475469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5475469</a>] [<a href="https://doi.org/10.1139/o70-168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5475469">Pootrakul and Dixon (1970)</a>, <a href="#235" class="mim-tip-reference" title="Lorkin, P. A., Charlesworth, D., Lehmann, H., Rahbar, S., Tuchinda, S., Lie-Injo, L. E. <strong>Two haemoglobins Q, alpha 74 (EF3) and alpha 75 (EF4) aspartic acid to histidine.</strong> Brit. J. Haemat. 19: 117-125, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5460202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5460202</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1970.tb01607.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5460202">Lorkin et al. (1970)</a>, <a href="#182" class="mim-tip-reference" title="Iuchi, I., Hidaka, K., Ueda, S., Shibata, S., Kusumoto, T. <strong>Hemoglobin G Taichung (alpha 74 asp-to-his) heterozygotes found in two Japanese families.</strong> Hemoglobin 2: 79-84, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640847</a>] [<a href="https://doi.org/10.3109/03630267808999193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="640847">Iuchi et al. (1978)</a>, and <a href="#156" class="mim-tip-reference" title="Higgs, D. R., Hunt, D. M., Drysdale, H. C., Clegg, J. B., Pressley, L., Weatherall, D. J. <strong>The genetic basis of Hb Q-H disease.</strong> Brit. J. Haemat. 46: 387-400, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7448125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7448125</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1980.tb05985.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7448125">Higgs et al. (1980)</a>. <a href="#425" class="mim-tip-reference" title="Zeng, F.-Y., Fucharoen, S., Huang, S.-Z., Rodgers, G. P. <strong>Hb Q-Thailand (alpha74 (EF3) asp-to-his): gene organization, molecular structure, and DNA diagnosis.</strong> Hemoglobin 16: 481-491, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487419</a>] [<a href="https://doi.org/10.3109/03630269208993116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487419">Zeng et al. (1992)</a> demonstrated that the mutation is due to a GAC-to-CAC change in codon 74 of the HBA1 gene. They developed a simple and accurate method for diagnosis of the Hb Q (Thailand) variant based on restriction enzyme analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5475469+5410724+640847+7448125+1487419+13510789+5460202+5960254+508945+13703277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0043 HEMOGLOBIN G (WAIMANALO)</strong>
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HEMOGLOBIN AIDA
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HBA1, ASP64ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33984024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33984024;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33984024?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33984024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33984024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017034 OR RCV000017035" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017034, RCV000017035" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017034...</a>
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<p>See <a href="#39" class="mim-tip-reference" title="Blackwell, R. Q., Jim, R. T. S., Tan, T. G. H., Weng, M. I., Liu, C. S., Wang, C. L. <strong>Hemoglobin G Waimanalo: alpha 64 asp-to-asn.</strong> Biochim. Biophys. Acta 322: 27-33, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4744336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4744336</a>] [<a href="https://doi.org/10.1016/0005-2795(73)90170-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4744336">Blackwell et al. (1973)</a> and <a href="#56" class="mim-tip-reference" title="Bunn, H. F., Altman, A. J., Stangland, K., Firshein, S. I., Forget, B., Schmidt, G. J., Jones, R. T. <strong>Hemoglobins Aida (alpha 64 asp-to-asn) and D-Los Angeles (beta 121 glu-to-gln) in an Asian-Indian family.</strong> Hemoglobin 2: 531-540, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/750553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">750553</a>] [<a href="https://doi.org/10.3109/03630267809005354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="750553">Bunn et al. (1978)</a>. <a href="#329" class="mim-tip-reference" title="Schiliro, G., Russo-Mancuso, G., Dibenedetto, S. P., Samperi, P., Di Cataldo, A., Ragusa, R., Testa, R. <strong>Six rare hemoglobin variants found in Sicily.</strong> Hemoglobin 15: 431-437, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1802885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1802885</a>] [<a href="https://doi.org/10.3109/03630269108998862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1802885">Schiliro et al. (1991)</a> found this variant in a Filipino mother and child living in Sicily. They showed no hematologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=750553+1802885+4744336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34879587 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34879587;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34879587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34879587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017036" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017036" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017036</a>
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<p>See <a href="#417" class="mim-tip-reference" title="Winter, W. P., Rucknagel, D. L., Fielding, J. <strong>Identification of several rare hemoglobin variants discovered in a population survey including a new variant Hb Garden State alpha-82 ala-to-asp. (Abstract)</strong> Clin. Res. 26: 122A, 1978."None>Winter et al. (1978)</a>.</p>
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<a id="0045" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0045 HEMOGLOBIN GRADY</strong>
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HEMOGLOBIN DAKAR
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HBA1, 3AA INS, 118THR-GLU-PHE119
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017038 OR RCV000017039" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017038, RCV000017039" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017038...</a>
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<p>At the time it was first studied by <a href="#175" class="mim-tip-reference" title="Huisman, T. H. J., Wilson, J. B., Gravely, M., Hubbard, M. <strong>Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.</strong> Proc. Nat. Acad. Sci. 71: 3270-3273, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4528583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4528583</a>] [<a href="https://doi.org/10.1073/pnas.71.8.3270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4528583">Huisman et al. (1974)</a>, hemoglobin Grady was unique in having an insertion of threonine-glutamic acid-phenylalanine between amino acids 118 and 119 of the alpha chain. Several hemoglobins with deletions were then known (Leiden, Lyon, Freiburg, Niteroi, Tochigi, St. Antoine, Tours and Gun Hill). <a href="#342" class="mim-tip-reference" title="Scott, A. F., Phillips, J. A., III, Young, K. E., Kazazian, H. H., Jr., Smith, K. D., Charache, S., Clegg, J. B. <strong>The molecular basis of hemoglobin Grady.</strong> Am. J. Hum. Genet. 33: 129-133, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6258429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6258429</a>]" pmid="6258429">Scott et al. (1981)</a> found no evidence of an extra (fifth) alpha gene. They argued, therefore, that if, as supposed, Hb Grady arose by unequal crossing over, the event occurred between alleles rather than between the separate alpha-1 and alpha-2 loci. The glu-phe-thr insertion is a repeat of normal residues 116, 117 and 118. See <a href="#64" class="mim-tip-reference" title="Cleek, M. P., Gardiner, M. B., Reese, A. L., Harris, H. F., Felice, A. E., Huisman, T. H. J. <strong>The Atlanta family with hemoglobin Grady revisited. (Letter)</strong> Am. J. Hum. Genet. 35: 1314-1316, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6650506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6650506</a>]" pmid="6650506">Cleek et al. (1983)</a>. Substitution of glutamine for histidine at alpha 112 was thought to be the change in hemoglobin Dakar; however, on restudy the hemoglobin was found to be identical to Hb Grady (<a href="#112" class="mim-tip-reference" title="Garel, M. C., Goossens, M., Oudart, J. L., Blouquit, Y., Thillet, J., Rosa, J. <strong>Hemoglobin Dakar = Hb Grady: demonstration by a new approach to the analysis of the tryptic core region of the alpha chain and oxygen equilibrium properties.</strong> Biochim. Biophys. Acta 453: 459-471, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/999899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">999899</a>] [<a href="https://doi.org/10.1016/0005-2795(76)90141-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="999899">Garel et al., 1976</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4528583+6650506+999899+6258429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
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<a id="0046" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0046 HEMOGLOBIN GUANGZHOU</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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HEMOGLOBIN HANGZHOU
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</span>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP64GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35873730 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35873730;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35873730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35873730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017040 OR RCV000017041" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017040, RCV000017041" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017040...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#185" class="mim-tip-reference" title="Jen, P. C., Liu, Y. <strong>Hemoglobin Guangzhou, alpha64 (E3) asp-to-gly, a new abnormal hemoglobin found in Guangzhou, China.</strong> Hemoglobin 11: 25-30, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3454663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3454663</a>] [<a href="https://doi.org/10.3109/03630268709036577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3454663">Jen and Liu (1987)</a>, <a href="#430" class="mim-tip-reference" title="Zhou, Z., Chen, L., Chen, P., Zhang, K., Wang, Y. <strong>Hemoglobin Hangzhou alpha64 (E13) asp-to-gly: a new variant found in China.</strong> Hemoglobin 11: 31-33, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3583763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3583763</a>] [<a href="https://doi.org/10.3109/03630268709036578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3583763">Zhou et al. (1987)</a>, and <a href="#220" class="mim-tip-reference" title="Li, H., Zhao, X., Qin, F., Li, H., Li, L., He, X., Chang, X., Li, Z., Liang, K., Xing, F., Chang, W., Wong, R., Yang, I., Li, F., Zhang, T., Tian, R., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Abnormal hemoglobins in the Silk Road region of China.</strong> Hum. Genet. 86: 231-235, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265836</a>] [<a href="https://doi.org/10.1007/BF00197711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2265836">Li et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3583763+3454663+2265836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0047" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0047 HEMOGLOBIN GUIZHOU</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN UTSUNOMIYA
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PRO77ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34019158 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34019158;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34019158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34019158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017042 OR RCV000017043" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017042, RCV000017043" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017042...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#148" class="mim-tip-reference" title="Hattori, Y., Ohba, Y., Suda, T., Miura, Y., Yoshinaka, H., Miyaji, T. <strong>Hemoglobin Guizhou in Japan.</strong> Hemoglobin 9: 187-192, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839774</a>] [<a href="https://doi.org/10.3109/03630268508997002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839774">Hattori et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0048" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0048 HEMOGLOBIN HANDA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN MUNAKATA
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS90MET
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33911106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33911106;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33911106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33911106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017044 OR RCV000017045" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017044, RCV000017045" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017044...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#133" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hb Handa (alpha90 (FG2) lys-to-met): structure and biosynthesis of a new slightly higher oxygen affinity variant.</strong> Hemoglobin 6: 379-389, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6815131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6815131</a>] [<a href="https://doi.org/10.3109/03630268208996943" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6815131">Harano et al. (1982)</a> and <a href="#362" class="mim-tip-reference" title="Sugihara, J., Imamura, T., Kagimoto, M., Matsuo, T., Yamada, H., Imoto, T., Yanase, T. <strong>A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain.</strong> Biochim. Biophys. Acta 744: 119-120, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403040</a>] [<a href="https://doi.org/10.1016/0167-4838(83)90349-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6403040">Sugihara et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6815131+6403040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0049" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0049 HEMOGLOBIN HANDSWORTH</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HBA1, GLY18ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34504387 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34504387;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34504387?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34504387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34504387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750294;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017037" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017037" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017037</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#122" class="mim-tip-reference" title="Griffiths, K. D., Lang, A., Lehmann, H., Mann, J. R., Plowman, D., Raine, D. N. <strong>Haemoglobin Handsworth alpha 18 glycine-to-arginine.</strong> FEBS Lett. 75: 93-95, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852596</a>] [<a href="https://doi.org/10.1016/0014-5793(77)80060-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="852596">Griffiths et al. (1977)</a>, <a href="#62" class="mim-tip-reference" title="Chih-chuan, L., Hai-nan, T., Kuo-feng, C. <strong>Hemoglobin Handsworth (alpha 18 (A16) gly-to-arg) in a Chinese.</strong> Hemoglobin 5: 191-193, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7216818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7216818</a>] [<a href="https://doi.org/10.3109/03630268108996924" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7216818">Chih-chuan et al. (1981)</a>, and <a href="#11" class="mim-tip-reference" title="Al-Awamy, B., Niazi, G. A., Wilson, J. B., Huisman, T. H. J. <strong>Hb Setif or alpha94(G1)asp-to-tyr observed in a Saudi Arabian family.</strong> Hemoglobin 9: 87-90, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3997545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3997545</a>] [<a href="https://doi.org/10.3109/03630268508996987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3997545">Al-Awamy et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=852596+3997545+7216818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0050" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0050 HEMOGLOBIN HARBIN</strong>
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</h4>
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HBA1, LYS16MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35210126 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35210126;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35210126?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35210126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35210126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017046" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017046" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017046</a>
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<p>See <a href="#427" class="mim-tip-reference" title="Zeng, Y., Huang, S., Qiu, X., Cheng, G., Ren, Z., Jin, Q., Chen, C., Jiao, C., Tang, Z., Liu, R., Bao, X., Zeng, L., Duan, Y., Zhang, G. <strong>Hemoglobin Chongqing (alpha2 (NA2) leu-to-arg) and hemoglobin Harbin (alpha16 (A14) lys-to-met) found in China.</strong> Hemoglobin 8: 569-581, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6526652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6526652</a>] [<a href="https://doi.org/10.3109/03630268408991742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6526652">Zeng et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6526652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0051" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0051 HEMOGLOBIN HEKINAN</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU27ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41530750 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41530750;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41530750?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41530750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41530750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017047 OR RCV000507741" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017047, RCV000507741" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017047...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#132" class="mim-tip-reference" title="Harano, T., Harano, K., Imai, N., Ueda, S., Seki, M. <strong>An electrophoretically silent hemoglobin variant, Hb Hekinan (alpha27 (B8) glu-to-asp) found in a Japanese.</strong> Hemoglobin 12: 61-65, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384699</a>] [<a href="https://doi.org/10.3109/03630268808996883" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3384699">Harano et al. (1988)</a>. Using dot-blot analysis of amplified DNA with (32)p-labeled probes, <a href="#429" class="mim-tip-reference" title="Zhao, W., Wilson, J. B., Webber, B. B., Kutlar, A., Tamagnini, G. P., Kuam, B., Huisman, T. H. J. <strong>Hb Hekinan observed in three Chinese from Macau: identification of the GAG-to-GAT mutation in the alpha-1-globin gene.</strong> Hemoglobin 14: 627-635, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1983218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1983218</a>] [<a href="https://doi.org/10.3109/03630269009046971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1983218">Zhao et al. (1990)</a> located the mutation in codon 27 of the minor alpha-1 globin gene and showed that the change involved a GAG (glutamic acid)-to-GAT (aspartic acid) mutation. Their patients were 3 Chinese women from Macau. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1983218+3384699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In Thailand, <a href="#272" class="mim-tip-reference" title="Ngiwsara, L., Srisomsap, C., Winichagoon, P., Fucharoen, S., Svasti, J. <strong>Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)glu-to-asp (alpha-1)] and alpha-thalassemia in Thailand.</strong> Hemoglobin 28: 145-150, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182057</a>] [<a href="https://doi.org/10.1081/hem-120035913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15182057">Ngiwsara et al. (2004)</a> described 2 unrelated cases of compound heterozygosity for Hb Hekinan and alpha-thalassemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0052" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0052 HEMOGLOBIN HIROSAKI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PHE43LEU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41491146 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41491146;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41491146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41491146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017048" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017048" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017048</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See Ohba et al. (<a href="#282" class="mim-tip-reference" title="Ohba, Y., Miyaji, T., Matsuoka, M., Yokoyama, M., Numakura, H., Nagata, K., Takebe, Y., Izumi, Y., Shibata, S. <strong>Hemoglobin Hirosaki (alpha 43(CE1) phe-to-leu), a new unstable variant.</strong> Biochim. Biophys. Acta 405: 155-160, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1182166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1182166</a>] [<a href="https://doi.org/10.1016/0005-2795(75)90325-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1182166">1975</a>, <a href="#280" class="mim-tip-reference" title="Ohba, Y., Miyaji, T., Matsuoka, M., Morito, M., Iuchi, I. <strong>Characterization of Hb Ube-4: alpha 116 (GH4) glu-to-ala.</strong> Hemoglobin 2: 181-186, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640856</a>] [<a href="https://doi.org/10.3109/03630267809074785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="640856">1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1182166+640856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0053" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0053 HEMOGLOBIN HOBART</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HBA1, HIS20ARG
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33943087 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33943087;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33943087?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33943087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33943087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017049" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017049" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017049</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#103" class="mim-tip-reference" title="Fleming, P. J., Sumner, D. R., Wyatt, K., Hughes, W. G., Melrose, W. D., Jupe, D. M. D., Baikie, M. J. <strong>Hemoglobin Hobart or alpha20 (B1) his-to-arg: a new alpha chain hemoglobin variant.</strong> Hemoglobin 11: 211-220, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3654264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3654264</a>] [<a href="https://doi.org/10.3109/03630268709017887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3654264">Fleming et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3654264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0054" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0054 HEMOGLOBIN HOPKINS 2</strong>
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</span>
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</h4>
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</div>
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HBA1, HIS112ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34830032 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34830032;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34830032?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34830032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34830032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017050 OR RCV001283981 OR RCV001826475" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017050, RCV001283981, RCV001826475" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017050...</a>
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<p>Fast hemoglobin. See <a href="#357" class="mim-tip-reference" title="Smith, E. W., Torbert, J. V. <strong>Study of two abnormal hemoglobins with evidence for a new genetic locus for hemoglobin formation.</strong> Bull. Johns Hopkins Hosp. 102: 38-45, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13500096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13500096</a>]" pmid="13500096">Smith and Torbert (1958)</a>, <a href="#181" class="mim-tip-reference" title="Itano, H. A., Robinson, E. A. <strong>Genetic control of the alpha- and beta-chains of hemoglobin.</strong> Proc. Nat. Acad. Sci. 46: 1492-1501, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16590776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16590776</a>] [<a href="https://doi.org/10.1073/pnas.46.11.1492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16590776">Itano and Robinson (1960)</a>, <a href="#47" class="mim-tip-reference" title="Bradley, T. B., Jr., Boyer, S. H., Allen, F. H., Jr. <strong>Hopkins-2 hemoglobin: a revised pedigree with data on blood and serum groups.</strong> Bull. Johns Hopkins Hosp. 108: 75-79, 1961."None>Bradley et al. (1961)</a>, <a href="#290" class="mim-tip-reference" title="Ostertag, W., Von Ehrenstein, G., Charache, S. <strong>Duplicated alpha-chain genes in Hopkins-2 haemoglobin of man and evidence for unequal crossing over between them.</strong> Nature N.B. 237: 90-94, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4503919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4503919</a>] [<a href="https://doi.org/10.1038/newbio237090a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4503919">Ostertag et al. (1972)</a>, <a href="#65" class="mim-tip-reference" title="Clegg, J. B., Charache, S. <strong>The structure of hemoglobin Hopkins-2.</strong> Hemoglobin 2: 85-88, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/646867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">646867</a>] [<a href="https://doi.org/10.3109/03630267808999194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="646867">Clegg and Charache (1978)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13500096+4503919+646867+16590776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0055 HEMOGLOBIN I</strong>
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HEMOGLOBIN I (BURLINGTON)<br />
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HEMOGLOBIN I (PHILADELPHIA)<br />
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HEMOGLOBIN I (SKAMANIA)<br />
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HEMOGLOBIN I (TEXAS)
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HBA1, LYS16GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41407250 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41407250;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41407250?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41407250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41407250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017051 OR RCV000017052 OR RCV000017053 OR RCV000017054 OR RCV000017055 OR RCV000507468 OR RCV001811176 OR RCV004755738" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017051, RCV000017052, RCV000017053, RCV000017054, RCV000017055, RCV000507468, RCV001811176, RCV004755738" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017051...</a>
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<p>Fast hemoglobin. Substitution of aspartic acid for lysine at alpha 16 was first reported by <a href="#266" class="mim-tip-reference" title="Murayama, M. <strong>Chemical difference between normal human haemoglobin and haemoglobin-I.</strong> Nature 196: 276-277, 1962."None>Murayama (1962)</a>. However, Crick pointed out that this substitution could not be accomplished by change in one base. Restudy by <a href="#31" class="mim-tip-reference" title="Beale, D., Lehmann, H. <strong>Abnormal haemoglobins and the genetic code.</strong> Nature 207: 259-261, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5886214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5886214</a>] [<a href="https://doi.org/10.1038/207259a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5886214">Beale and Lehmann (1965)</a> and by <a href="#332" class="mim-tip-reference" title="Schneider, R. G., Alperin, J. B., Beale, D., Lehmann, H. <strong>Hemoglobin I in an American Negro family: structural and hematologic studies.</strong> J. Lab. Clin. Med. 68: 940-946, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5926190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5926190</a>]" pmid="5926190">Schneider et al. (1966)</a> showed substitution of glutamic acid for lysine. Hemoglobin I was thought to show sickling but this has been shown to be due to faulty technique (<a href="#333" class="mim-tip-reference" title="Schneider, R. G., Alperin, J. B., Lehmann, H. <strong>Sickling tests. Pitfalls in performance and interpretation.</strong> JAMA 202: 419-421, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6072501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6072501</a>] [<a href="https://doi.org/10.1001/jama.202.5.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6072501">Schneider et al., 1967</a>). See <a href="#323" class="mim-tip-reference" title="Rucknagel, D. L., Page, E. B., Jensen, W. N. <strong>Hemoglobin I: an inherited hemoglobin anomaly.</strong> Blood 10: 999-1009, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13260359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13260359</a>]" pmid="13260359">Rucknagel et al. (1955)</a>, <a href="#340" class="mim-tip-reference" title="Schwartz, I. R., Atwater, J., Repplinger, E., Tocantins, L. M. <strong>Sickling of erythrocytes with I-A electrophoretic haemoglobin pattern.</strong> Fed. Proc. 16: 115, 1957."None>Schwartz et al. (1957)</a>, Itano and Robinson (<a href="#180" class="mim-tip-reference" title="Itano, H. A., Robinson, E. A. <strong>Formation of normal and double abnormal haemoglobins by recombination of haemoglobin I with S and C.</strong> Nature 183: 1799-1800, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14405987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14405987</a>] [<a href="https://doi.org/10.1038/1831799a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14405987">1959</a>, <a href="#181" class="mim-tip-reference" title="Itano, H. A., Robinson, E. A. <strong>Genetic control of the alpha- and beta-chains of hemoglobin.</strong> Proc. Nat. Acad. Sci. 46: 1492-1501, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16590776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16590776</a>] [<a href="https://doi.org/10.1073/pnas.46.11.1492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16590776">1960</a>), <a href="#315" class="mim-tip-reference" title="Ranney, H. M., O'Brien, C., Jacobs, A. S. <strong>An abnormal human foetal haemoglobin with an abnormal alpha-polypeptide chain.</strong> Nature 194: 743-745, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14490283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14490283</a>] [<a href="https://doi.org/10.1038/194743a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14490283">Ranney et al. (1962)</a>, <a href="#276" class="mim-tip-reference" title="O'Brien, C., Gray, M. J., Jacobs, A. S. <strong>A survey of cord bloods for abnormal hemoglobin, with further observations on hemoglobin I (Burlington).</strong> Am. J. Obstet. Gynec. 88: 816-822, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14130347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14130347</a>] [<a href="https://doi.org/10.1016/0002-9378(64)90617-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14130347">O'Brien et al. (1964)</a>, <a href="#372" class="mim-tip-reference" title="Thompson, R. B., Rau, P. J., Odom, J., Bell, W. N. <strong>The sickling phenomenon in a white male without Hb-S.</strong> Acta Haemat. 34: 347-353, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4956511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4956511</a>] [<a href="https://doi.org/10.1159/000209459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4956511">Thompson et al. (1965)</a>, <a href="#332" class="mim-tip-reference" title="Schneider, R. G., Alperin, J. B., Beale, D., Lehmann, H. <strong>Hemoglobin I in an American Negro family: structural and hematologic studies.</strong> J. Lab. Clin. Med. 68: 940-946, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5926190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5926190</a>]" pmid="5926190">Schneider et al. (1966)</a>, <a href="#43" class="mim-tip-reference" title="Bowman, B. H., Barnett, D. R. <strong>Amino-acid substitution in haemoglobin I (Texas variant).</strong> Nature 214: 499, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6032878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6032878</a>] [<a href="https://doi.org/10.1038/214499a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6032878">Bowman and Barnett (1967)</a>, <a href="#30" class="mim-tip-reference" title="Baur, E. W. <strong>Hb alpha 2 glu beta 2(Hb I) in a Caucasian family: independent mutation or common origin?</strong> Humangenetik 6: 368-372, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5713622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5713622</a>]" pmid="5713622">Baur (1968)</a>, <a href="#206" class="mim-tip-reference" title="Labossiere, A., Vella, F. <strong>Hemoglobin I in a white family in Saskatoon.</strong> Clin. Biochem. 4: 104-113, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5128292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5128292</a>] [<a href="https://doi.org/10.1016/s0009-9120(71)90846-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5128292">Labossiere and Vella (1971)</a>, <a href="#101" class="mim-tip-reference" title="Fleming, P. J., Arnold, B. J., Thompson, E. O. P., Hughes, W. G., Morgan, L. <strong>Hb I alpha 16 lys-to-glu and Hb Broussais alpha 90 lys-to-asn in Australian families.</strong> Pathology 10: 317-327, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/740406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">740406</a>] [<a href="https://doi.org/10.3109/00313027809063520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="740406">Fleming et al. (1978)</a>, and <a href="#233" class="mim-tip-reference" title="Liebhaber, S. A., Rappaport, E. F., Cash, F. E., Ballas, S. K., Schwartz, E., Surrey, S. <strong>Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.</strong> Science 226: 1449-1451, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6505702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6505702</a>] [<a href="https://doi.org/10.1126/science.6505702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6505702">Liebhaber et al. (1984)</a>. The hemoglobin I mutation is curious in that the mutation is present in HBA2 (<a href="/entry/141850#0011">141850.0011</a>) as well as in HBA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14490283+6072501+740406+4956511+13260359+14405987+5926190+16590776+5886214+5713622+5128292+6505702+6032878+14130347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0056 MOVED TO <a href="/entry/141850#0015">141850.0015</a></strong>
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<strong>.0057 HEMOGLOBIN IWATA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33976776 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33976776;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33976776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33976776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017056" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017056" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017056</a>
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<p>See <a href="#346" class="mim-tip-reference" title="Shibata, S., Miyaji, T., Ohba, Y. <strong>Abnormal hemoglobins in Japan.</strong> Hemoglobin 4: 395-408, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6998928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6998928</a>] [<a href="https://doi.org/10.3109/03630268008996220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6998928">Shibata et al. (1980)</a> and <a href="#234" class="mim-tip-reference" title="Liu, G.-Y., Zhang, G.-X., Nie, S.-Y., Luo, H.-Y., Teng, Y.-Q., Liu, S.-P., Song, M., Son, L., Chen, S.-S., Jia, P.-C., Liang, C.-C. <strong>A case of hemoglobin Iwate (alpha87(F8)his-to-arg) in China.</strong> Hemoglobin 7: 279-282, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6874376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6874376</a>]" pmid="6874376">Liu et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6998928+6874376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0058" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0058 HEMOGLOBIN J (ABIDJAN)</strong>
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</h4>
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HBA1, GLY51ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35934411 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35934411;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35934411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35934411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017057" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017057" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017057</a>
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</span>
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<p>See <a href="#57" class="mim-tip-reference" title="Cabannes, R., Renaud, R., Mauran, A., Pennors, H., Charlesworth, D., Price, B. G., Lehmann, H. <strong>Two fast haemoglobins in Ivory-Coast: Hb K Woolwich and a new haemoglobin Hb J Abidjan (alpha 51 gly-to-asp).</strong> Nouv. Rev. Franc. Hemat. 12: 289-300, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4347947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4347947</a>]" pmid="4347947">Cabannes et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4347947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0059" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0059 HEMOGLOBIN J (ANATOLIA)</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS61THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41381645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41381645;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41381645?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41381645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41381645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017058" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017058" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017058</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#116" class="mim-tip-reference" title="Giordano, P. C., Fodde, R., Amons, R., Ploem, J. E., Bernini, L. F. <strong>Hb J-Anatolia (alpha61(E10)lys-to-thr): structural characterization and gene localization of a new alpha chain variant.</strong> Hemoglobin 14: 119-128, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2272835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2272835</a>] [<a href="https://doi.org/10.3109/03630269009046953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2272835">Giordano et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2272835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0060" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0060 HEMOGLOBIN J (BIRMINGHAM)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN J (MEERUT)
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA120GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs36075744 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36075744;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs36075744?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36075744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36075744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63749927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749927;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63749927?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63749927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63749927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017059 OR RCV000017060 OR RCV000759778 OR RCV004799744" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017059, RCV000017060, RCV000759778, RCV004799744" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017059...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#190" class="mim-tip-reference" title="Kamuzora, H., Lehmann, H. <strong>A new hemoglobin variant. Hemoglobin J (Birmingham): alpha 120 (H3) ala-to-glu.</strong> Ann. Clin. Biochem. 11: 53-55, 1974."None>Kamuzora and Lehmann (1974)</a> and <a href="#41" class="mim-tip-reference" title="Blackwell, R. Q., Wong, H. B., Wang, C.-L., Weng, M. I., Liu, C.-S. <strong>Hemoglobin J-Meerut: alpha 120 ala-to-glu.</strong> Biochim. Biophys. Acta 351: 7-12, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4600474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4600474</a>]" pmid="4600474">Blackwell et al. (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4600474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0061" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0061 MOVED TO <a href="/entry/141850#0008">141850.0008</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0062" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0062 HEMOGLOBIN J (CAMAGUEY)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ARG141GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991910 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991910;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750134;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017061" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017061" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017061</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#247" class="mim-tip-reference" title="Martinez, G., Lima, F., Residenti, C., Colombo, B. <strong>Hb J Camaguey alpha 141 (HC3) arg-to-gly: a new abnormal human hemoglobin.</strong> Hemoglobin 2: 47-52, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640841</a>] [<a href="https://doi.org/10.3109/03630267808999187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="640841">Martinez et al. (1978)</a>. <a href="#320" class="mim-tip-reference" title="Romero, M. J., Garrido, M. L., Abril, E., Garrido, F., de Pablos, J. Ma. <strong>Detection of Hb J-Camaguey (alpha-141(HC3)arg-to-gly) in three Spanish families.</strong> Hemoglobin 19: 287-289, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537233</a>] [<a href="https://doi.org/10.3109/03630269509005816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8537233">Romero et al. (1995)</a> found this hemoglobin variant in 3 Spanish families. The original description by <a href="#247" class="mim-tip-reference" title="Martinez, G., Lima, F., Residenti, C., Colombo, B. <strong>Hb J Camaguey alpha 141 (HC3) arg-to-gly: a new abnormal human hemoglobin.</strong> Hemoglobin 2: 47-52, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640841</a>] [<a href="https://doi.org/10.3109/03630267808999187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="640841">Martinez et al. (1978)</a> was in a Cuban family of Spanish ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8537233+640841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0063" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0063 HEMOGLOBIN J (CAPE TOWN)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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</span>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ARG92GLN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991779 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991779;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017062 OR RCV000641166" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017062, RCV000641166" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017062...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#42" class="mim-tip-reference" title="Botha, M. C., Beale, D., Issacs, W. A., Lehmann, H. <strong>Hemoglobin J Cape Town.</strong> Nature 212: 792-794, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5988206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5988206</a>] [<a href="https://doi.org/10.1038/212792a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5988206">Botha et al. (1966)</a>, <a href="#134" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong> Hemoglobin 7: 85-90, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188720</a>] [<a href="https://doi.org/10.3109/03630268309038404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188720">Harano et al. (1983)</a>, and <a href="#210" class="mim-tip-reference" title="Lambridis, A. J., Ramsay, M., Jenkins, T. <strong>The haematological puzzle of Hb J Cape Town is partly solved.</strong> Brit. J. Haemat. 63: 363-367, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3718876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3718876</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1986.tb05561.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3718876">Lambridis et al. (1986)</a>. Erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>) is a clinical feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6188720+5988206+3718876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0064" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0064 HEMOGLOBIN J (CUBUJUQUI)</strong>
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</h4>
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HBA1, ARG141SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991910 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991910;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750134;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017063" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017063" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017063</a>
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<p>See <a href="#325" class="mim-tip-reference" title="Saenz, G. F., Elizondo, J., Alvarado, M. A., Atmetlla, F., Arroyo, G., Martinez, G., Lima, F., Colombo, B. <strong>Chemical characterization of a new haemoglobin variant Haemoglobin J (Cubujuqui) (alpha 141 (HC3) arg-to-ser).</strong> Biochim. Biophys. Acta 494: 48-50, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/901812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">901812</a>] [<a href="https://doi.org/10.1016/0005-2795(77)90133-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="901812">Saenz et al. (1977)</a> and <a href="#265" class="mim-tip-reference" title="Moo-Penn, W. F., Therrell, B. L., Jr., Jue, D. L., Johnson, M. H. <strong>Hemoglobin Cubujuqui (alpha141 arg-to-ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin.</strong> Hemoglobin 5: 715-724, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338473</a>] [<a href="https://doi.org/10.3109/03630268108991839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7338473">Moo-Penn et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7338473+901812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0065" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0065 HEMOGLOBIN J (HABANA)</strong>
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HBA1, ALA71GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs3180281 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3180281;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs3180281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs3180281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017064" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017064" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017064</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#69" class="mim-tip-reference" title="Colombo, B., Vidal, H., Kamuzora, H., Lehmann, H. <strong>A new haemoglobin J-Habana--alpha 71 (E20) alanine-to-glutamic acid.</strong> Biochim. Biophys. Acta 351: 1-6, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4834679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4834679</a>] [<a href="https://doi.org/10.1016/0005-2795(74)90059-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4834679">Colombo et al. (1974)</a> and <a href="#285" class="mim-tip-reference" title="Ohba, Y., Yoshinaka, H., Hattori, Y., Matsuoka, M., Miyaji, T. <strong>Hemoglobin J Habana found in a cord blood of a Japanese.</strong> Hemoglobin 7: 327-329, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6618889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6618889</a>] [<a href="https://doi.org/10.3109/03630268309052714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6618889">Ohba et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4834679+6618889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
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<div>
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<a id="0066" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0066 HEMOGLOBIN J (KUROSH)</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA19ASP
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017065" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017065" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017065</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#311" class="mim-tip-reference" title="Rahbar, S., Ala, F., Akhavan, E., Nowzari, G., Shoa'i, I., Zamanianpoor, M. H. <strong>Two new hemoglobins: hemoglobin Perspolis (alpha 64 (E13) asp-to-tyr) and hemoglobin J Kurosh (alpha 19 (AB) ala-to-asp).</strong> Biochim. Biophys. Acta 427: 119-125, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1259994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1259994</a>] [<a href="https://doi.org/10.1016/0005-2795(76)90290-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1259994">Rahbar et al. (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1259994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0067" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0067 HEMOGLOBIN J (MEDELLIN)</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLY22ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34608326 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34608326;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34608326?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34608326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34608326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017066" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017066" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017066</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#121" class="mim-tip-reference" title="Gottlieb, A. J., Restrepo, A., Itano, H. A. <strong>Hb J (Medellin). Chemical and genetic study.</strong> Fed. Proc. 23: 172, 1964."None>Gottlieb et al. (1964)</a>.</p>
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</span>
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</div>
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<a id="0068" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0068 HEMOGLOBIN J (NYANZA)</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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HBA1, ALA21ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs11548605 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11548605;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs11548605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs11548605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017067</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#194" class="mim-tip-reference" title="Kendall, A. G., Barr, R. D., Lang, A., Lehmann, H. <strong>Hemoglobin J (Nyanza) alpha 21 (B2) ala-to-asp.</strong> Biochim. Biophys. Acta 310: 357-359, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4719146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4719146</a>] [<a href="https://doi.org/10.1016/0005-2795(73)90116-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4719146">Kendall et al. (1973)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4719146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0069" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0069 MOVED TO <a href="/entry/141850#0010">141850.0010</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="0070" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0070 HEMOGLOBIN J (PARIS 1)</strong>
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</span>
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<span class="mim-text-font">
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HEMOGLOBIN J (ALJEZUR)
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HBA1, ALA12ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35615982 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35615982;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35615982?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35615982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35615982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017068 OR RCV000017069" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017068, RCV000017069" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017068...</a>
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</span>
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<p>See <a href="#321" class="mim-tip-reference" title="Rosa, J., Maleknia, N., Vergos, D., Dunet, R. <strong>Une nouvelle hemoglobine anormale: l'hemoglobine J(alpha-Paris) 12 ala-a-asp.</strong> Nouv. Rev. Franc. Hemat. 6: 423-426, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225453</a>]" pmid="4225453">Rosa et al. (1966)</a>, <a href="#376" class="mim-tip-reference" title="Trincao, C., de Melo, J. M., Lorkin, P. A., Lehmann, H. <strong>Haemoglobin J Paris in the south of Portugal (Algarve).</strong> Acta Haemat. 39: 291-298, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4971935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4971935</a>] [<a href="https://doi.org/10.1159/000208973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4971935">Trincao et al. (1968)</a>, and <a href="#242" class="mim-tip-reference" title="Marinucci, M., Mavilio, F., Massa, A., Gabbianelli, M., Fontanarosa, P. P., Camagna, A., Ignesti, C., Tentori, L. <strong>A new abnormal human hemoglobin: Hb Prato (alpha31 arg-to-ser).</strong> Biochim. Biophys. Acta 578: 534-540, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/486536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">486536</a>] [<a href="https://doi.org/10.1016/0005-2795(79)90184-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="486536">Marinucci et al. (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4971935+486536+4225453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0071" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0071 HEMOGLOBIN J (RAJAPPEN)</strong>
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</span>
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</h4>
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</div>
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<div style="float: left;">
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HBA1, LYS90THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33911106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33911106;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33911106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33911106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017070 OR RCV001811177" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017070, RCV001811177" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017070...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#177" class="mim-tip-reference" title="Hyde, R. D., Kinderlerer, J. L., Lehmann, H., Hall, M. <strong>Hb J Rajappen.</strong> Biochim. Biophys. Acta 243: 515-519, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5129592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5129592</a>]" pmid="5129592">Hyde et al. (1971)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5129592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0072" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0072 HEMOGLOBIN J (ROVIGO)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA53ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34574239 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34574239;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34574239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34574239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017071" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017071" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017071</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#12" class="mim-tip-reference" title="Alberti, R., Mariuzzi, G. M., Artibani, L., Bruni, E., Tentori, L. <strong>A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine to aspartic acid.</strong> Biochim. Biophys. Acta 342: 1-4, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4824923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4824923</a>] [<a href="https://doi.org/10.1016/0005-2795(74)90099-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4824923">Alberti et al. (1974)</a> and <a href="#261" class="mim-tip-reference" title="Moo-Penn, W. F., Jue, D. L., Baine, R. M. <strong>Hemoglobin J Rovigo (alpha 53 ala-to-asp) in association with beta thalassemia.</strong> Hemoglobin 2: 443-445, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31339</a>] [<a href="https://doi.org/10.3109/03630267809007078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31339">Moo-Penn et al. (1978)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4824923+31339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0073" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0073 MOVED TO <a href="/entry/141850#0036">141850.0036</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0074" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0074 HEMOGLOBIN J (SINGA)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASN78ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33964623 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33964623;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33964623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33964623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017072 OR RCV000017073" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017072, RCV000017073" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017072...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#418" class="mim-tip-reference" title="Wong, S. C., Ali, M. A. M., Pond, J. R., Rubin, S. M., Johnson, S. E. N., Wilson, J. B., Huisman, T. H. J. <strong>Hb J-Singa (alpha-78 asn-to-asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 asn-to-asp, alpha-79 ala-to-gly).</strong> Biochim. Biophys. Acta 784: 187-188, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691995</a>] [<a href="https://doi.org/10.1016/0167-4838(84)90126-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6691995">Wong et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6691995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0075" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0075 HEMOGLOBIN J (SINGAPORE)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASN78ASP AND ALA79GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906544 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906544;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017072 OR RCV000017073" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017072, RCV000017073" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017072...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Since no simple frameshift mechanism could be imagined, the possibility of 2 separate mutations was favored by <a href="#38" class="mim-tip-reference" title="Blackwell, R. Q., Boon, W. H., Liu, C. S., Weng, M. I. <strong>Hemoglobin J Singapore: alpha-78 asn to asp; alpha-79 ala to gly.</strong> Biochim. Biophys. Acta 278: 482-490, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5085670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5085670</a>] [<a href="https://doi.org/10.1016/0005-2795(72)90008-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5085670">Blackwell et al. (1972)</a>, who suggested that 2 separate hemoglobins, appropriately called Hb J (Singa) and Hb J (Pore), will be discovered eventually. Double mutation on the same chromosome would seem more likely than crossing-over in a compound heterozygote since the 2 codons involved are contiguous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5085670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<a id="0076" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0076 HEMOGLOBIN J (TASHIKUERGAN)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA19GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35628685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35628685;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35628685?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35628685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35628685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017074" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017074" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017074</a>
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<p>See <a href="#168" class="mim-tip-reference" title="Houjun, L., Dexiang, L., Zhiguo, L., Ping, L., Ly, L., Ji, C., Shaozhi, H. <strong>A new fast-moving hemoglobin variant, Hb J-Tashikuergan alpha19 (AB1) ala-to-glu.</strong> Hemoglobin 8: 391-395, 1984."None>Houjun et al. (1984)</a>. <a href="#220" class="mim-tip-reference" title="Li, H., Zhao, X., Qin, F., Li, H., Li, L., He, X., Chang, X., Li, Z., Liang, K., Xing, F., Chang, W., Wong, R., Yang, I., Li, F., Zhang, T., Tian, R., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Abnormal hemoglobins in the Silk Road region of China.</strong> Hum. Genet. 86: 231-235, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265836</a>] [<a href="https://doi.org/10.1007/BF00197711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2265836">Li et al. (1990)</a> found this variant in populations in the Silk Road region of China. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2265836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0077 HEMOGLOBIN J (TONGARIKI)</strong>
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HBA1, ALA115ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34204059 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34204059;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34204059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34204059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017075" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017075" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017075</a>
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<p>See <a href="#109" class="mim-tip-reference" title="Gajdusek, D. C., Guiart, J., Kirk, R. L., Carrell, R. W., Irvine, D., Kynoch, P. A. M., Lehmann, H. <strong>Haemoglobin J Tongariki (alpha 115 alanine to aspartic acid): the first new haemoglobin variant found in a Pacific (Melanesian) population.</strong> J. Med. Genet. 4: 1-6, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6034517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6034517</a>] [<a href="https://doi.org/10.1136/jmg.4.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6034517">Gajdusek et al. (1967)</a> and <a href="#32" class="mim-tip-reference" title="Beaven, G. H., Hornabrook, R. W., Fox, R. H., Huehns, E. R. <strong>Occurrence of heterozygotes and homozygotes for the alpha-chain haemoglobin variant Hb-J (Tongariki) in New Guinea.</strong> Nature 235: 46-47, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4550394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4550394</a>] [<a href="https://doi.org/10.1038/235046a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4550394">Beaven et al. (1972)</a>. A homozygous individual had only anomalous hemoglobin suggesting the existence of only one alpha locus in Melanesians (<a href="#4" class="mim-tip-reference" title="Abramson, R. K., Rucknagel, D. L., Shreffler, D. C., Saave, J. J. <strong>Homozygous Hb J Tongariki: evidence for only one alpha chain structural locus in Melanesians.</strong> Science 169: 194-196, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5427353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5427353</a>] [<a href="https://doi.org/10.1126/science.169.3941.194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5427353">Abramson et al., 1970</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4550394+6034517+5427353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0078" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0078 HEMOGLOBIN J (TORONTO)</strong>
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HBA1, ALA5ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34090856 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34090856;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34090856?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34090856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34090856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017076 OR RCV000759776 OR RCV001831578" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017076, RCV000759776, RCV001831578" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017076...</a>
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<p>See <a href="#74" class="mim-tip-reference" title="Crookston, J. H., Beale, D., Irvine, D., Lehmann, H. <strong>A new haemoglobin, J Toronto (alpha-5 alanine to aspartic acid).</strong> Nature 208: 1059-1060, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5870555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5870555</a>] [<a href="https://doi.org/10.1038/2081059a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5870555">Crookston et al. (1965)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5870555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0079" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0079 HEMOGLOBIN JACKSON</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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HBA1, LYS127ASN
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33972894 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33972894;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33972894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33972894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63749865 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749865;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63749865?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63749865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63749865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017077" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017077" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017077</a>
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</span>
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<p>See <a href="#260" class="mim-tip-reference" title="Moo-Penn, W. F., Bechtel, K. C., Johnson, M. H., Jue, D. L., Holland, S., Huff, C., Schmidt, R. M. <strong>Hemoglobin (Jackson) alpha 127 (H10) lys-to-asn.</strong> Am. J. Clin. Path. 66: 453-456, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949045</a>] [<a href="https://doi.org/10.1093/ajcp/66.2.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="949045">Moo-Penn et al. (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=949045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0080" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0080 HEMOGLOBIN KARACHI</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34751764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34751764;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34751764?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34751764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34751764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017078" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017078" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017078</a>
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<p>See <a href="#9" class="mim-tip-reference" title="Ahmed, A., Naqvi, S., Ehsanullah, S., Zaidi, Z. H. <strong>Abnormal hemoglobin 11 - Hb (Karachi), an alpha chain abnormality at position 5 ala-pro.</strong> J. Pak. Med. Assoc. 36: 206-208, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3097343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3097343</a>]" pmid="3097343">Ahmed et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3097343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0081" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0081 HEMOGLOBIN KARIYA</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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HBA1, LYS40GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34492931 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34492931;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34492931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34492931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017079" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017079" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017079</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#134" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong> Hemoglobin 7: 85-90, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188720</a>] [<a href="https://doi.org/10.3109/03630268309038404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188720">Harano et al. (1983)</a> and <a href="#178" class="mim-tip-reference" title="Imai, K., Tsuneshige, A., Harano, T., Harano, K. <strong>Structure-function relationships in hemoglobin Kariya, lys40(C5)alpha-to-glu, with high oxygen affinity: functional role of the salt bridge between lys40alpha and the beta-chain COOH terminus.</strong> J. Biol. Chem. 264: 11174-11180, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2500435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2500435</a>]" pmid="2500435">Imai et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2500435+6188720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0082" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0082 HEMOGLOBIN KAWACHI</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PRO44ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33978134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33978134;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33978134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33978134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017080" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017080" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017080</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#133" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hb Handa (alpha90 (FG2) lys-to-met): structure and biosynthesis of a new slightly higher oxygen affinity variant.</strong> Hemoglobin 6: 379-389, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6815131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6815131</a>] [<a href="https://doi.org/10.3109/03630268208996943" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6815131">Harano et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6815131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0083" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0083 HEMOGLOBIN KOELLIKER</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN F (KOELLIKER)
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ARG141DEL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913128;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017081 OR RCV000017082" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017081, RCV000017082" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017081...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Not a genetic change. The C-terminal amino acid, 141, of the alpha chain (arginine) is missing, probably from the action of a carboxypeptidase present in normal plasma. This unusual fast hemoglobin is observed in persons with hemolysis. The change can occur in fetal hemoglobin also (<a href="#201" class="mim-tip-reference" title="Kohne, E., Krause, M., Leupold, D., Kleihauer, E. <strong>Hemoglobin F Koelliker (alpha-2-minus 141 (HC3) arg-to-gamma-2): a modification of fetal hemoglobin.</strong> Hemoglobin 1: 257-266, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/893128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">893128</a>] [<a href="https://doi.org/10.3109/03630267709003408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="893128">Kohne et al., 1977</a>). See <a href="#245" class="mim-tip-reference" title="Marti, H. R., Beale, D., Lehmann, H. <strong>Haemoglobin Koelliker: a new acquired haemoglobin appearing after severe haemolysis: alpha-2 (minus 141 arg) beta-2.</strong> Acta Haemat. 37: 174-180, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4961849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4961849</a>] [<a href="https://doi.org/10.1159/000209067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4961849">Marti et al. (1967)</a> and <a href="#328" class="mim-tip-reference" title="Schiliro, G., Russo, A., Azzia, N., Digiacomo, M. S., Musumeci, S., Russo, G. <strong>Hemoglobin Koelliker (alpha minus 141 arg) in favism.</strong> Acta Haemat. 67: 229, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6805217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6805217</a>] [<a href="https://doi.org/10.1159/000207065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6805217">Schiliro et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4961849+893128+6805217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0084" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0084 HEMOGLOBIN KOKURA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN BEILINSON<br />
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HEMOGLOBIN MICHIGAN-I<br />
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HEMOGLOBIN MICHIGAN-II<br />
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HEMOGLOBIN L (GASLINI)<br />
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HEMOGLOBIN TAGAWA II<br />
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HEMOGLOBIN UMI<br />
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HEMOGLOBIN MUGINO<br />
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HEMOGLOBIN YUKUHASHI-2
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP47GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33944368 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33944368;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33944368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33944368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017083 OR RCV000017084 OR RCV000017085 OR RCV000017086 OR RCV000017087 OR RCV000017088 OR RCV000017089 OR RCV000017090 OR RCV000017091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017083, RCV000017084, RCV000017085, RCV000017086, RCV000017087, RCV000017088, RCV000017089, RCV000017090, RCV000017091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017083...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#419" class="mim-tip-reference" title="Yamaoka, K., Kawamura, K., Hanada, M., Seita, M., Hitsumoto, S., Ooya, I. <strong>Studies on abnormal haemoglobins.</strong> Jpn. J. Hum. Genet. 5: 99-111, 1960."None>Yamaoka et al. (1960)</a>, <a href="#287" class="mim-tip-reference" title="Ooya, I., Kawamura, K., Seita, M., Hanada, M., Hitsumoto, A. <strong>Hemoglobin Kokura which was discovered in Kokura. (Abstract)</strong> 23rd General Meeting of the Japanese Society of Hematology, Kyoto 1961."None>Ooya et al. (1961)</a>, <a href="#367" class="mim-tip-reference" title="Sumida, I. <strong>Studies of abnormal hemoglobins in western Japan: frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha26ala-beta2) and hemoglobin Mugino (Hb L Ferrara; alpha247gly-beta2).</strong> Jpn. J. Hum. Genet. 19: 343-363, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1241593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1241593</a>]" pmid="1241593">Sumida (1975)</a>, and <a href="#278" class="mim-tip-reference" title="Ohba, Y., Hattori, Y., Matsuoka, M., Miyaji, T., Fuyuno, K. <strong>Hb Kokura (alpha 47 (CE5) asp-to-gly): a slightly unstable variant.</strong> Hemoglobin 6: 69-74, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7068437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7068437</a>] [<a href="https://doi.org/10.3109/03630268208996936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7068437">Ohba et al. (1982)</a>. The change is in TP IV (<a href="#88" class="mim-tip-reference" title="DeVries, A., Joshua, H., Lehmann, H., Hill, R. L., Fellows, R. E. <strong>The first observation of an abnormal hemoglobin in a Jewish family: hemoglobin Beilinson.</strong> Brit. J. Haemat. 9: 484-486, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14076130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14076130</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1963.tb05472.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14076130">DeVries et al., 1963</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1241593+7068437+14076130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0085" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0085 MOVED TO <a href="/entry/141850#0012">141850.0012</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0086" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0086 HEMOGLOBIN L (PERSIAN GULF)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLY57ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35252931 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35252931;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35252931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35252931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017092" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017092" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017092</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#312" class="mim-tip-reference" title="Rahbar, S., Kinderlerer, J. L., Lehmann, H. <strong>Haemoglobin L Persian Gulf: alpha 57 (E6) glycine leads to arginine.</strong> Acta Haemat. 42: 169-175, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4982774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4982774</a>] [<a href="https://doi.org/10.1159/000208776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4982774">Rahbar et al. (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4982774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="0087" class="mim-anchor"></a>
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<strong>.0087 HEMOGLOBIN LEGNANO</strong>
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ERYTHROCYTOSIS 7, INCLUDED
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HBA1, ARG141LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33935328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33935328;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33935328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33935328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63751282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751282;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63751282?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017093 OR RCV000641177" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017093, RCV000641177" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017093...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#250" class="mim-tip-reference" title="Mavilio, F., Marinucci, M., Tentori, L., Fontanarosa, P. P., Rossi, U., Biagiotti, S. <strong>Hemoglobin Legnano (alpha 141 (HC3) arg-to-leu): a new abnormal human hemoglobin with high oxygen affinity.</strong> Hemoglobin 2: 249-259, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/701083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">701083</a>] [<a href="https://doi.org/10.3109/03630267809007070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="701083">Mavilio et al. (1978)</a>. Erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>) is a clinical feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=701083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<br />
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</div>
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</div>
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<a id="0088" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0088 HEMOGLOBIN LE LAMENTIN</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS20GLN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41525149 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41525149;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41525149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41525149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017094" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017094" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017094</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#343" class="mim-tip-reference" title="Sellaye, M., Blouquit, Y., Galacteros, F., Arous, N., Monplaisir, N., Rhoda, M. D., Braconnier, F., Rosa, J. <strong>A new silent hemoglobin variant in a black family from French West Indies: hemoglobin Le Lamentin alpha20 his-to-gln.</strong> FEBS Lett. 145: 128-130, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7128817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7128817</a>] [<a href="https://doi.org/10.1016/0014-5793(82)81220-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7128817">Sellaye et al. (1982)</a>, <a href="#134" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong> Hemoglobin 7: 85-90, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188720</a>] [<a href="https://doi.org/10.3109/03630268309038404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188720">Harano et al. (1983)</a>, and <a href="#239" class="mim-tip-reference" title="Malcorra-Azpiazu, J. J., Balda-Aguirre, M. I., Diaz-Chico, J. C., Kutlar, F., Kutlar, A., Wilson, J. B., Hu, H., Huisman, T. H. J. <strong>Hb Le Lamentin or alpha20 (B1) his-to-gln found in a Spanish family.</strong> Hemoglobin 12: 201-205, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384713</a>] [<a href="https://doi.org/10.3109/03630268808998028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3384713">Malcorra-Azpiazu et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7128817+3384713+6188720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="0089" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0089 HEMOGLOBIN LILLE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP74ALA
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33921047 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33921047;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33921047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33921047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017095" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017095" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017095</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#91" class="mim-tip-reference" title="Djoumessi, S., Rousseaux, J., Descamps, J., Goudemand, M., Dautrevaux, M. <strong>Hemoglobin Lille, alpha-2(74(EF3) asp-to-ala)beta-2.</strong> Hemoglobin 5: 475-479, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7275663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7275663</a>]" pmid="7275663">Djoumessi et al. (1981)</a> and <a href="#237" class="mim-tip-reference" title="Lu, Y.-Q., Liu, J.-F., Huang, C.-H., Huang, P.-Y., Hu, H.-L., Peng, X.-H., Chen, S.-S., Jia, P.-C., Yang, K.-G., Liang, C.-C., Zuo, C.-R. <strong>Hemoglobin Lille (alpha74 (EF3) asp-to-ala): the first instance in China.</strong> Hemoglobin 8: 523-527, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6500991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6500991</a>]" pmid="6500991">Lu et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6500991+7275663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0090" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0090 HEMOGLOBIN LOIRE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA88SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35239527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35239527;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35239527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35239527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017096 OR RCV000656378" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017096, RCV000656378" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017096...</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>This variant was discovered in a 10-year-old Algerian boy born in Loire. The child had erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>) and microcytosis, the latter being due to iron deficiency (<a href="#20" class="mim-tip-reference" title="Baklouti, F., Baudin-Chich, V., Kister, J., Marden, M., Teyssier, G., Poyart, C., Delaunay, J., Wajcman, H. <strong>Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire (alpha88 (F9) ala-to-ser).</strong> Europ. J. Biochem. 177: 307-312, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3142772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3142772</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14377.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3142772">Baklouti et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3142772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0091" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0091 HEMOGLOBIN LUXEMBOURG</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HBA1, TYR24HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34743106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34743106;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34743106?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34743106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34743106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017097" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017097" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017097</a>
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</span>
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<p><a href="#123" class="mim-tip-reference" title="Groff, P., Galacteros, F., Kalmes, G., Blouquit, Y., Wajcman, H. <strong>HB Luxembourg (alpha24(B5)tyr-to-his): a new unstable variant.</strong> Hemoglobin 13: 429-436, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599879</a>] [<a href="https://doi.org/10.3109/03630268908998082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2599879">Groff et al. (1989)</a> found this substitution in association with mild hemolytic anemia and increased indirect bilirubinemia in a family originating from the Netherlands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2599879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<div>
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<a id="0092" class="mim-anchor"></a>
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<strong>.0092 HEMOGLOBIN M (BOSTON)</strong>
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HEMOGLOBIN GOTHENBURG<br />
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HEMOGLOBIN M (GOTHENBURG)<br />
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HEMOGLOBIN M (OSAKA)<br />
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HEMOGLOBIN M (KISKUNHALAS)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35213748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35213748;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35213748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35213748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017098 OR RCV000017099 OR RCV000017100 OR RCV000017101 OR RCV000017102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017098, RCV000017099, RCV000017100, RCV000017101, RCV000017102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017098...</a>
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<p>The aberrant hemoglobins associated with methemoglobinemia (see <a href="/entry/617973">617973</a>) are referred to as hemoglobin M. Most of the hemoglobin M variants have substitutions of histidine at alpha 58, alpha 87, beta 63, or beta 92. These 4 amino acids are critical to the binding of the heme group. The exception is hemoglobin M (Milwaukee-1). See <a href="#113" class="mim-tip-reference" title="Gerald, P. S., Cook, C. D., Diamond, L. K. <strong>Hemoglobin M.</strong> Science 126: 300-301, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13454817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13454817</a>] [<a href="https://doi.org/10.1126/science.126.3268.300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13454817">Gerald et al. (1957)</a>, <a href="#128" class="mim-tip-reference" title="Hansen, H. A., Jagenburg, O. R., Johansson, B. G. <strong>Studies on an abnormal hemoglobin causing hereditary congenital cyanosis.</strong> Acta Paediatr. (Stockh.) 49: 503-511, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14399582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14399582</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1960.tb07765.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14399582">Hansen et al. (1960)</a>, <a href="#114" class="mim-tip-reference" title="Gerald, P. S., Efron, M. L. <strong>Chemical studies of several varieties of Hb M.</strong> Proc. Nat. Acad. Sci. 47: 1758-1767, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13897827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13897827</a>] [<a href="https://doi.org/10.1073/pnas.47.11.1758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13897827">Gerald and Efron (1961)</a>, <a href="#36" class="mim-tip-reference" title="Betke, K. <strong>Haemoglobin-M: Typen und ihre Differenzierung (Uebersicht). In: Lehmann, H.; Betke, K.: Haemoglobin-Colloquium.</strong> Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 39-47."None>Betke (1962)</a>, <a href="#149" class="mim-tip-reference" title="Hayashi, A., Yamamura, Y., Ogita, S., Kikkawa, H. <strong>Hemoglobin M (Osaka), a new variant of hemoglobin M.</strong> Jpn. J. Hum. Genet. 9: 87-94, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5893086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5893086</a>]" pmid="5893086">Hayashi et al. (1964)</a>, <a href="#352" class="mim-tip-reference" title="Shimizu, A., Hayashi, A., Yamamura, Y., Tsugita, A., Kitayama, K. <strong>The structural study on a new hemoglobin variant, Hb M (Osaka).</strong> Biochim. Biophys. Acta 97: 472-482, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14323593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14323593</a>] [<a href="https://doi.org/10.1016/0304-4165(65)90159-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14323593">Shimizu et al. (1965)</a>, <a href="#368" class="mim-tip-reference" title="Suzuki, T., Hayashi, A., Yamamura, Y., Enoki, Y., Tyuma, I. <strong>Functional abnormality of hemoglobin M (Osaka).</strong> Biochem. Biophys. Res. Commun. 19: 691-695, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5840695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5840695</a>] [<a href="https://doi.org/10.1016/0006-291x(65)90312-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5840695">Suzuki et al. (1965)</a>, <a href="#162" class="mim-tip-reference" title="Hollan, S. R., Szelenyi, J. G., Lehmann, H., Beale, D. <strong>A Boston-type haemoglobin M in Hungary: haemoglobin M Kiskunhalas.</strong> Haematologica 1: 11-18, 1967."None>Hollan et al. (1967)</a>, and <a href="#308" class="mim-tip-reference" title="Pulsinelli, P. D., Perutz, M. F., Nagel, R. L. <strong>Structure of hemoglobin M (Boston), a variant with a five-coordinated ferric heme.</strong> Proc. Nat. Acad. Sci. 70: 3870-3874, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4521212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4521212</a>] [<a href="https://doi.org/10.1073/pnas.70.12.3870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4521212">Pulsinelli et al. (1973)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13897827+5893086+14323593+14399582+4521212+13454817+5840695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0093 HEMOGLOBIN M (IWATE)</strong>
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HEMOGLOBIN M (KANKAKEE)<br />
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HEMOGLOBIN M (OLDENBURG)<br />
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HEMOGLOBIN M (SENDAI)
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HBA1, HIS87TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928876;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017103 OR RCV000017104 OR RCV000017105 OR RCV000017106 OR RCV003313924" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017103, RCV000017104, RCV000017105, RCV000017106, RCV003313924" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017103...</a>
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<p>Hb Iwate was the first variant hemoglobin found in Japan (<a href="#347" class="mim-tip-reference" title="Shibata, S., Tamura, A., Iuchi, I., Takahashi, H. <strong>Hemoglobin M-1. Demonstration of a new abnormal hemoglobin in hereditary nigremia.</strong> Acta Haemat. Jpn. 23: 96-104, 1960."None>Shibata et al., 1960</a>). Familial cyanosis had been recognized for about 200 years in the prefecture of Iwate in Honshu, where about 70 affected persons were identified in the 1950s. It was called 'kuchikuro,' or 'blackmouth.' In each form of methemoglobinemia (see <a href="/entry/617973">617973</a>), the heme iron is stabilized in the ferric form. Patients with the Hb M alpha forms are cyanotic at birth; those with the Hb M beta forms are usually not cyanotic until they are 3 months of age. <a href="#167" class="mim-tip-reference" title="Horst, J., Assum, G., Griese, E. U., Eigel, A., Hampl, W., Kohne, E. <strong>Hemoglobin M Iwate is caused by a C-to-T transition in codon 87 of the human alpha-1-globin gene.</strong> Hum. Genet. 75: 53-55, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026948</a>] [<a href="https://doi.org/10.1007/BF00273839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3026948">Horst et al. (1987)</a> showed that the Iwate mutation involves the alpha-1 globin gene. Specifically, they demonstrated a CAC-to-TAC mutation in codon 87 of that gene. They showed that the Iwate mutation can be identified directly on RsaI digestion. See <a href="#254" class="mim-tip-reference" title="Meyering, C. A., Israels, A. L., Sebens, T., Huisman, T. H. J. <strong>Studies on the heterogeneity of hemoglobin. II. The heterogeneity of different human hemoglobin types in carboxymethyl cellulose and in amberlite irc-50 chromatography: quantitative aspects.</strong> Clin. Chim. Acta 5: 208-222, 1960."None>Meyering et al. (1960)</a>, <a href="#345" class="mim-tip-reference" title="Shibata, S., Iuchi, I., Miyaji, T., Ueda, S. <strong>Spectroscopic characterization of hemoglobin M (Iwate) and hemoglobin M (Kurume), the two variants of hemoglobin M found in Japan.</strong> Acta Haemat. Jpn. 24: 477-485 and 486-494, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13911805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13911805</a>]" pmid="13911805">Shibata et al. (1961)</a>, <a href="#114" class="mim-tip-reference" title="Gerald, P. S., Efron, M. L. <strong>Chemical studies of several varieties of Hb M.</strong> Proc. Nat. Acad. Sci. 47: 1758-1767, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13897827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13897827</a>] [<a href="https://doi.org/10.1073/pnas.47.11.1758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13897827">Gerald and Efron (1961)</a>, <a href="#256" class="mim-tip-reference" title="Miyaji, T., Ueda, S., Shibata, S., Tamura, A., Sasaki, H. <strong>Further studies on the fingerprint of Hb M (Iwate).</strong> Acta Haemat. Jpn. 25: 169-175, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14474785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14474785</a>]" pmid="14474785">Miyaji et al. (1962)</a>, <a href="#152" class="mim-tip-reference" title="Heller, P. <strong>Hemoglobin M (Chicago) and M (Kankakee). In: Lehmann, H.; Betke, K. (eds.): Haemoglobin-Colloquium.</strong> Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 47-49."None>Heller (1962)</a>, <a href="#151" class="mim-tip-reference" title="Heller, P., Weinstein, H. G., Yakulis, V. J., Rosenthal, I. M. <strong>Hemoglobin M (Kankakee), a new variant of hemoglobin M.</strong> Blood 20: 287-301, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13906251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13906251</a>]" pmid="13906251">Heller et al. (1962)</a>, <a href="#373" class="mim-tip-reference" title="Tonz, O., Simon, H. A., Hasselfeld, W. <strong>Untersuchung einer grossen Haemoglobin-M-Sippe. Entdeckung eines neuen Blutfarbstoffes: Hb M-Oldenburg.</strong> Schweiz. Med. Wschr. 92: 1311-1313, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13985279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13985279</a>]" pmid="13985279">Tonz et al. (1962)</a>, <a href="#349" class="mim-tip-reference" title="Shibata, S. <strong>Hereditary nigremia (geneticobiochemical aspects).</strong> Jpn. J. Hum. Genet. 9: 193-206, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5896606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5896606</a>]" pmid="5896606">Shibata (1964)</a>, <a href="#370" class="mim-tip-reference" title="Tamura, A. <strong>Black blood disease.</strong> Jpn. J. Hum. Genet. 9: 183-192, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5896605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5896605</a>]" pmid="5896605">Tamura (1964)</a>, <a href="#352" class="mim-tip-reference" title="Shimizu, A., Hayashi, A., Yamamura, Y., Tsugita, A., Kitayama, K. <strong>The structural study on a new hemoglobin variant, Hb M (Osaka).</strong> Biochim. Biophys. Acta 97: 472-482, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14323593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14323593</a>] [<a href="https://doi.org/10.1016/0304-4165(65)90159-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14323593">Shimizu et al. (1965)</a>, <a href="#295" class="mim-tip-reference" title="Pik, C., Tonz, O. <strong>Nature of haemoglobin M (Oldenburg).</strong> Nature 210: 1182, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5964191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5964191</a>] [<a href="https://doi.org/10.1038/2101182a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5964191">Pik and Tonz (1966)</a>, <a href="#238" class="mim-tip-reference" title="Maggio, A., Massa, A., Giampaolo, A., Mavilio, F., Tentori, L. <strong>Occurrence of Hb M Iwate (alpha 87 his-to-tyr) in an Italian carrier.</strong> Hemoglobin 5: 205-208, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7216821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7216821</a>] [<a href="https://doi.org/10.3109/03630268108996927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7216821">Maggio et al. (1981)</a>, and <a href="#251" class="mim-tip-reference" title="Mayne, E. E., Elder, G. E., Lappin, T. R. J., Ferguson, L. A. K. <strong>Hb M Iwate (alpha87 his-to-tyr): de novo mutation in an Irish family.</strong> Hemoglobin 10: 205-208, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3957697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3957697</a>] [<a href="https://doi.org/10.3109/03630268609046445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3957697">Mayne et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13911805+3957697+13897827+7216821+5896605+13906251+14323593+5964191+13985279+3026948+5896606+14474785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Ameri, A., Fairbanks, V. F., Yanik, G. A., Mahdi, F., Thibodeau, S. N., McCormick, D. J., Boxer, L. A., McDonagh, K. T. <strong>Identification of the molecular genetic defect of patients with methemoglobin M Kankakee (M-Iwate), alpha-87 (F8) his-to-tyr: evidence for an electrostatic model of alpha-M hemoglobin assembly.</strong> Blood 94: 1825-1826, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10477710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10477710</a>]" pmid="10477710">Ameri et al. (1999)</a> likewise determined that the molecular defect in 2 patients with Hb M (Kankakee) was his87 to tyr in the HBA1 gene. The proportion of Hb M (Kankakee) observed was higher than that predicted for an alpha-1-globin variant. They presented evidence suggesting that the greater-than-expected proportion of Hb M (Kankakee) results from preferential association of the electronegative beta-globin chains with the alpha-(M)-globin chains that are more electropositive than normal alpha-globin chains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10477710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0094 MOVED TO <a href="/entry/141850#0047">141850.0047</a></strong>
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<strong>.0095 HEMOGLOBIN MATSUE-OKI</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33977363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33977363;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33977363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33977363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017107" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017107" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017107</a>
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<p>See <a href="#281" class="mim-tip-reference" title="Ohba, Y., Miyaji, T., Matsuoka, M., Takeda, I., Fukuba, Y., Shibata, S., Ohkura, K. <strong>Hemoglobin Matsue-Oki: alpha 75 (EF4) aspartic acid-to-asparagine.</strong> Hemoglobin 1: 383-388, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/893135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">893135</a>] [<a href="https://doi.org/10.3109/03630267708996896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="893135">Ohba et al. (1977)</a> and <a href="#422" class="mim-tip-reference" title="Yi-Tao, Z., Headlee, M. E., Henson, J., Lam, H., Wilson, J. B., Huisman, T. H. J. <strong>Identification of hemoglobin G-Philadelphia (alpha68 asn-to-lys) and hemoglobin Matsue-Oki (alpha75 asp-to-asn) in a black infant.</strong> Biochim. Biophys. Acta 707: 206-212, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6814490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6814490</a>] [<a href="https://doi.org/10.1016/0167-4838(82)90352-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6814490">Yi-Tao et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6814490+893135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0096" class="mim-anchor"></a>
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<strong>.0096 HEMOGLOBIN MEMPHIS</strong>
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HBA1, GLU23GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33939620 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33939620;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33939620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33939620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017108" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017108" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017108</a>
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<span class="mim-text-font">
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<p>Substitution of glutamine for glutamic acid at alpha 23. A hemoglobin S homozygote who also carries this abnormal hemoglobin has a mild form of sickle cell anemia. See Kraus et al. (<a href="#203" class="mim-tip-reference" title="Kraus, A. P., Miyaji, T., Iuchi, I., Kraus, L. M. <strong>Hemoglobin Memphis: a new variety of sickle cell anemia with symptoms due to an alpha-chain variant hemoglobin (alpha23 glu).</strong> J. Lab. Clin. Med. 66: 886-887, 1965."None>1965</a>, <a href="#204" class="mim-tip-reference" title="Kraus, A. P., Miyaji, T., Iuchi, I., Kraus, L. M. <strong>Hemoglobin Memphis, a new variant of sickle cell anemia.</strong> Trans. Assoc. Am. Phys. 80: 297-304, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6082248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6082248</a>]" pmid="6082248">1967</a>) and <a href="#71" class="mim-tip-reference" title="Cooper, M. R., Kraus, A. P., Felts, J. H., Myers, R., Kraus, L. M. <strong>A third case of hemoglobin Memphis: sickle cell disease.</strong> Am. J. Med. 55: 535-541, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4743350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4743350</a>] [<a href="https://doi.org/10.1016/0002-9343(73)90211-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4743350">Cooper et al. (1973)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6082248+4743350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0097" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0097 HEMOGLOBIN MEXICO</strong>
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</h4>
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<span class="mim-text-font">
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HEMOGLOBIN J<br />
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HEMOGLOBIN J (MEXICO)<br />
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HEMOGLOBIN J (PARIS 2)<br />
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HEMOGLOBIN UPPSALA
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HBA1, GLN54GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35317336 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35317336;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35317336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35317336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017109 OR RCV000017110 OR RCV000017111 OR RCV000017112 OR RCV000017113 OR RCV001800309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017109, RCV000017110, RCV000017111, RCV000017112, RCV000017113, RCV001800309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017109...</a>
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<p>Fast hemoglobin. See Jones et al. (<a href="#187" class="mim-tip-reference" title="Jones, R. T., Koler, R. D., Lisker, R. <strong>The chemical structure of hemoglobin Mexico determined by automatic peptide chromatography and subunit hybridization.</strong> Clin. Res. 11: 105, 1963."None>1963</a>, <a href="#186" class="mim-tip-reference" title="Jones, R. T., Brimhall, B., Lisker, R. <strong>Chemical characterization of hemoglobin Mexico and hemoglobin Chiapas.</strong> Biochim. Biophys. Acta 154: 488-495, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5650416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5650416</a>] [<a href="https://doi.org/10.1016/0005-2795(68)90008-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5650416">1968</a>), <a href="#33" class="mim-tip-reference" title="Beckman, L., Christodoulou, C., Fessas, P., Loukopoulos, D., Kaltsoya, A., Nilsson, L.-O. <strong>A Swedish haemoglobin variant.</strong> Acta Genet. Statist. Med. 16: 362-370, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6012906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6012906</a>] [<a href="https://doi.org/10.1159/000151984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6012906">Beckman et al. (1966)</a>, <a href="#205" class="mim-tip-reference" title="Labie, D., Rosa, J. <strong>Sur une nouvelle hemoglobine anormale: l'hemoglobine J (alpha-54 glutamine a glutamique).</strong> Nouv. Rev. Franc. Hemat. 6: 426-430, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225368</a>]" pmid="4225368">Labie and Rosa (1966)</a>, <a href="#310" class="mim-tip-reference" title="Quattrin, N., Ventruto, V. <strong>Hemoglobin Mexico in a Sardinian woman.</strong> Helv. Med. Acta 33: 388-394, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6038433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6038433</a>]" pmid="6038433">Quattrin and Ventruto (1967)</a>, <a href="#100" class="mim-tip-reference" title="Fessas, P., Kaltsoya, A., Loukopoulos, D., Nilsson, L.-O. <strong>On the chemical structure of haemoglobin Uppsala.</strong> Hum. Hered. 19: 152-158, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5798597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5798597</a>] [<a href="https://doi.org/10.1159/000152211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5798597">Fessas et al. (1969)</a>, and <a href="#374" class="mim-tip-reference" title="Trabuchet, G., Morle, F., Verdier, G., Godet, J., Benabadji, M., Nigon, V. M. <strong>Mapping the alpha-globin genes in Hb J Mexico carriers.</strong> Hum. Genet. 62: 164-166, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6298095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6298095</a>] [<a href="https://doi.org/10.1007/BF00282308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6298095">Trabuchet et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5650416+6012906+6038433+6298095+5798597+4225368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0098" class="mim-anchor"></a>
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<strong>.0098 HEMOGLOBIN MILLEDGEVILLE</strong>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33978134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33978134;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33978134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33978134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017114 OR RCV000641192 OR RCV002227039" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017114, RCV000641192, RCV002227039" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017114...</a>
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</span>
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<p>See <a href="#166" class="mim-tip-reference" title="Honig, G. R., Vida, L. N., Shamsuddin, M., Mason, R. G., Schlumpf, H. W., Luke, R. A. <strong>Hemoglobin Milledgeville (alpha44 (CD2) pro-to-leu): a new variant with increased oxygen affinity.</strong> Biochim. Biophys. Acta 626: 424-431, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7213661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7213661</a>] [<a href="https://doi.org/10.1016/0005-2795(80)90138-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7213661">Honig et al. (1980)</a>. Erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>) is a clinical feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7213661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0099" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0099 HEMOGLOBIN MIYANO</strong>
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HBA1, THR41SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34890875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34890875;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34890875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34890875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017115" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017115" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017115</a>
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<p>See <a href="#279" class="mim-tip-reference" title="Ohba, Y., Imai, K., Uenaka, R., Ami, M., Fujisawa, K., Itoh, K., Hirakawa, K., Miyaji, T. <strong>Hb Miyano or alpha41(C6)thr-to-ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor.</strong> Hemoglobin 13: 637-647, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2634665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2634665</a>] [<a href="https://doi.org/10.3109/03630268908998841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2634665">Ohba et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2634665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0100" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0100 HEMOGLOBIN MIZUSHI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP75GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991223 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991223;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017116" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017116" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017116</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>No hematologic abnormality. See <a href="#183" class="mim-tip-reference" title="Iuchi, I., Shimasaki, S., Hidaka, K., Harano, T., Ueda, S., Shibata, S., Mizushima, J., Kubo, N. <strong>Hemoglobin Mizushi (alpha75 EF4 asp-to-gly): a new hemoglobin variant observed in a Japanese family.</strong> Hemoglobin 4: 209-214, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390865</a>]" pmid="7390865">Iuchi et al. (1980)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7390865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0101" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0101 HEMOGLOBIN MOABIT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU86ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35548338 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35548338;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35548338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35548338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017117" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017117" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017117</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#199" class="mim-tip-reference" title="Knuth, A., Pribilla, W., Marti, H. R., Winterhalter, K. H. <strong>Hemoglobin Moabit: alpha 86 (F7) leu-to-arg: a new unstable abnormal hemoglobin.</strong> Acta Haemat. 61: 121-124, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/108887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">108887</a>] [<a href="https://doi.org/10.1159/000207643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="108887">Knuth et al. (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=108887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0102" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>.0102 MOVED TO <a href="/entry/141850#0013">141850.0013</a></strong>
|
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0103" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>.0103 MOVED TO <a href="/entry/141850#0033">141850.0033</a></strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0104" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0104 HEMOGLOBIN NECKER ENFANTS-MALADES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
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|
|
<div style="float: left;">
|
|
HBA1, HIS20TYR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
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|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34708054 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34708054;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34708054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34708054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017118" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017118" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017118</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant was detected by chromatography in the course of screening diabetics for Hb A1c (<a href="#399" class="mim-tip-reference" title="Wajcman, H., Elion, J., Boissel, J. P., Labie, D., Jos, J., Girot, R. <strong>A silent hemoglobin variant: hemoglobin Necker Enfants-Malades alpha 20 (B1) his-to-tyr.</strong> Hemoglobin 4: 177-184, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390863</a>] [<a href="https://doi.org/10.3109/03630268009042384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7390863">Wajcman et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7390863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
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</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<a id="0105" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0105 HEMOGLOBIN NIGERIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
HBA1, SER81CYS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34936612 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34936612;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34936612?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34936612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34936612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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|
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|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017119" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017119" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017119</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#163" class="mim-tip-reference" title="Honig, G. R., Shamsuddin, M., Tremaine, L. M., Mason, R. G., Vida, L. N., Sarnwick, R., Shahidi, N. T. <strong>Hemoglobin Nigeria (alpha81 ser-to-cys), a new variant having an inhibitory effect on the gelation of sickle hemoglobin. (Abstract)</strong> Blood 52 (suppl. 1): 113, 1978."None>Honig et al. (1978)</a>.</p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
<div>
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|
|
|
|
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<div>
|
|
<a id="0106" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0106 HEMOGLOBIN NOKO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
HBA1, MET76LYS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
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|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33969953 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33969953;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33969953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33969953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017120" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017120" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017120</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#348" class="mim-tip-reference" title="Shibata, S., Ueda, S., Miyaji, T., Imamura, T. <strong>Hemoglobinopathies in Japan.</strong> Hemoglobin 5: 509-515, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7275668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7275668</a>] [<a href="https://doi.org/10.3109/03630268108991829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7275668">Shibata et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7275668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<a id="0107" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0107 HEMOGLOBIN NORFOLK</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (NORFOLK)<br />
|
|
HEMOGLOBIN KAGOSHIMA<br />
|
|
HEMOGLOBIN NISHIK
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
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|
<div style="float: left;">
|
|
HBA1, GLY57ASP
|
|
</div>
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|
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</span>
|
|
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|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs36062788 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36062788;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36062788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36062788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
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|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017121 OR RCV000017122 OR RCV000017123 OR RCV000017124" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017121, RCV000017122, RCV000017123, RCV000017124" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017121...</a>
|
|
</span>
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</div>
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<div>
|
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<span class="mim-text-font">
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<p>Fast hemoglobin. See <a href="#7" class="mim-tip-reference" title="Ager, J. A. M., Lehmann, H., Vella, F. <strong>Haemoglobin 'Norfolk': a new haemoglobin found in an English family.</strong> Brit. Med. J. 2: 539-541, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13572830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13572830</a>] [<a href="https://doi.org/10.1136/bmj.2.5095.539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13572830">Ager et al. (1958)</a>, <a href="#19" class="mim-tip-reference" title="Baglioni, C. <strong>A chemical study of hemoglobin-Norfolk.</strong> J. Biol. Chem. 237: 69-74, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13863929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13863929</a>]" pmid="13863929">Baglioni (1962)</a>, <a href="#176" class="mim-tip-reference" title="Huntsman, R. G., Hall, M., Lehmann, H., Sukumaran, P. K. <strong>A second and a third abnormal haemoglobin in Norfolk. Hb G-Norfolk and Hb D-Norfolk.</strong> Brit. Med. J. 1: 720-722, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13955802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13955802</a>] [<a href="https://doi.org/10.1136/bmj.1.5332.720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13955802">Huntsman et al. (1963)</a>, <a href="#126" class="mim-tip-reference" title="Hanada, M., Ohta, Y., Imamura, T., Fejimura, T., Kawasaki, K., Kosaka, K., Yamaoka, K., Seita, M. <strong>Studies of abnormal hemoglobins in western Japan. (Abstract)</strong> Jpn. J. Hum. Genet. 9: 253-254, 1964."None>Hanada et al. (1964)</a>, <a href="#179" class="mim-tip-reference" title="Imamura, T. <strong>Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family.</strong> Am. J. Hum. Genet. 18: 584-593, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5927878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5927878</a>]" pmid="5927878">Imamura (1966)</a>, and <a href="#216" class="mim-tip-reference" title="Lehmann, H., Carrell, R. W. <strong>Variations in the structure of human haemoglobins: with particular reference to the unstable haemoglobins.</strong> Brit. Med. Bull. 25: 14-23, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5782754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5782754</a>] [<a href="https://doi.org/10.1093/oxfordjournals.bmb.a070664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5782754">Lehmann and Carrell (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13863929+13955802+5782754+5927878+13572830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0108 HEMOGLOBIN NOUAKCHOTT</strong>
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HBA1, PRO114LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33910377 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33910377;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33910377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33910377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017125" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017125" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017125</a>
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<p>See <a href="#392" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Gombaud-Saintonge, G., Riou, J., Galacteros, F. <strong>HB Fontainebleau (alpha21(B2)ala-to-pro), a new silent mutant hemoglobin.</strong> Hemoglobin 13: 421-429, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599878</a>] [<a href="https://doi.org/10.3109/03630268908998081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2599878">Wajcman et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2599878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0109 HEMOGLOBIN NUNOBIKI</strong>
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ERYTHROCYTOSIS 7, INCLUDED
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HBA1, ARG141CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33991910 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33991910;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33991910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33991910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750134;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017126 OR RCV000641200" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017126, RCV000641200" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017126...</a>
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<p>This hemoglobin showed an extremely high oxygen affinity. The patient, who had 'marginal erythrocytosis' (ECYT7; <a href="/entry/617981">617981</a>), was shown to have 13.1% Hb Nunobiki (<a href="#351" class="mim-tip-reference" title="Shimasaki, S. <strong>A new hemoglobin variant, hemoglobin Nunobiki (alpha141 (HC3) arg-to-cys): notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.</strong> J. Clin. Invest. 75: 695-701, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3973024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3973024</a>] [<a href="https://doi.org/10.1172/JCI111749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3973024">Shimasaki, 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3973024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0110 HEMOGLOBIN O (INDONESIA)</strong>
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HEMOGLOBIN O (BUGINESE-X)<br />
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HEMOGLOBIN BUGINESE-X<br />
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HEMOGLOBIN O (OLIVIERE)<br />
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HEMOGLOBIN OLIVIERE
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HBA1, GLU116LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33987053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33987053;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33987053?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33987053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33987053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63749882 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749882;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63749882?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63749882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63749882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017127 OR RCV000017128 OR RCV000017129 OR RCV000017130 OR RCV000017131 OR RCV001275688 OR RCV001811178 OR RCV004799745" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017127, RCV000017128, RCV000017129, RCV000017130, RCV000017131, RCV001275688, RCV001811178, RCV004799745" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017127...</a>
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<p>See <a href="#227" class="mim-tip-reference" title="Lie-Injo, L. E., Sadono, (NI). <strong>Haemoglobin O (Buginese X) in Sulawesi.</strong> Brit. Med. J. 1: 1461-1462, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13536534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13536534</a>] [<a href="https://doi.org/10.1136/bmj.1.5085.1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13536534">Lie-Injo and Sadono (1958)</a>, <a href="#18" class="mim-tip-reference" title="Baglioni, C., Lehmann, H. <strong>Chemical heterogeneity of haemoglobin O.</strong> Nature 196: 229-231, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13968953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13968953</a>] [<a href="https://doi.org/10.1038/196229a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13968953">Baglioni and Lehmann (1962)</a>, and <a href="#327" class="mim-tip-reference" title="Sansone, G., Centa, A., Sciarratta, V., Gallo, E., Lehmann, H. <strong>Haemoglobin O Indonesia (alpha116 glu-to-lys) in an Italian family.</strong> Acta Haemat. 43: 40-47, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4986187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4986187</a>] [<a href="https://doi.org/10.1159/000208712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4986187">Sansone et al. (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13536534+13968953+4986187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#79" class="mim-tip-reference" title="Daud, D., Harahap, A., Setianingsih, I., Nainggolan, I., Tranggana, S., Pakasi, R., Marzuki, S. <strong>The hemoglobin O mutation in Indonesia: distribution and phenotypic expression.</strong> J. Hum. Genet. 46: 499-505, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11558897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11558897</a>] [<a href="https://doi.org/10.1007/s100380170030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11558897">Daud et al. (2001)</a> investigated the occurrence of hemoglobin O (Indonesia) in related ethnic populations of the Indonesian archipelago. Nineteen individuals heterozygous for this variant were identified in 4 ethnic populations. The level of Hb O (Indonesia) in 17 of the individuals was 11.6 +/- 1.0%, significantly lower than the expected 17 to 22%, indicating the instability of Hb O (Indonesia). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11558897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0111" class="mim-anchor"></a>
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<strong>.0111 HEMOGLOBIN O (PADOVA)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33993166 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33993166;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33993166?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33993166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33993166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017132 OR RCV001283984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017132, RCV001283984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017132...</a>
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<p>See <a href="#387" class="mim-tip-reference" title="Vettore, L., De Sandre, G., Di Iorio, E. E., Winterhalter, K. H., Lang, A., Lehmann, H. <strong>A new abnormal hemoglobin O Padova, alpha 30 (B11) glu-to-lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient.</strong> Blood 44: 869-878, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4429803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4429803</a>]" pmid="4429803">Vettore et al. (1974)</a>, <a href="#196" class="mim-tip-reference" title="Kilinc, Y., Kumi, M., Gurgey, A., Altay, C., Webber, B. B., Wilson, J. B., Kutlar, A., Huisman, T. H. J. <strong>Hemoglobin O-Padova or alpha30(B11)glu-to-lys observed in members of a Turkish family.</strong> Hemoglobin 9: 621-625, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2869010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2869010</a>] [<a href="https://doi.org/10.3109/03630268508997044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2869010">Kilinc et al. (1985)</a>, and <a href="#246" class="mim-tip-reference" title="Martin, G., Villegas, A., Calero, F., del Palacio, S., Lopez, J. C., Lopez, M., Espinos, D. <strong>Hb O Padova in a Spanish family.</strong> Acta Haemat. 84: 1-4, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2117321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2117321</a>] [<a href="https://doi.org/10.1159/000205018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2117321">Martin et al. (1990)</a>. <a href="#331" class="mim-tip-reference" title="Schnedl, W. J., Reisinger, E. C., Katzensteiner, S., Lipp, R. W., Schreiber, F., Hopmeier, P., Krejs, G. J. <strong>Haemoglobin O Padova and falsely low haemoglobin A(1c) in a patient with type I diabetes.</strong> J. Clin. Path. 50: 434-446, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215129</a>] [<a href="https://doi.org/10.1136/jcp.50.5.434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215129">Schnedl et al. (1997)</a> showed that the silent hemoglobin O Padova mutation causes an additional peak on high performance liquid chromatography (HPLC) and falsely low HbA(1c) values (glycated hemoglobin) when measured by HPLC. HPLC is the gold standard for evaluation of glycated hemoglobin in diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2117321+9215129+2869010+4429803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0112" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0112 HEMOGLOBIN OGI</strong>
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</h4>
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<span class="mim-text-font">
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HEMOGLOBIN QUEENS
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HBA1, LEU34ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35203445 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35203445;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35203445?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35203445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35203445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017133 OR RCV000017134 OR RCV000985705" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017133, RCV000017134, RCV000985705" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017133...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#363" class="mim-tip-reference" title="Sugihara, J., Imamura, T., Yamada, H., Imoto, T., Matsuo, T., Sumida, I., Yanase, T. <strong>A new electrophoretic variant of hemoglobin (Ogi) in which a leucine residue is replaced by an arginine residue at position 34 of the alpha-chain.</strong> Biochim. Biophys. Acta 701: 45-48, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7055587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7055587</a>] [<a href="https://doi.org/10.1016/0167-4838(82)90310-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7055587">Sugihara et al. (1982)</a>, <a href="#262" class="mim-tip-reference" title="Moo-Penn, W. F., Jue, D. L., Johnson, M. H., McGuffey, J. E., Simpkins, H., Katz, J. <strong>Hemoglobin Queens: alpha34(B15) leu-to-arg structural and functional properties and its association with Hb E.</strong> Am. J. Hemat. 13: 323-327, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158628</a>] [<a href="https://doi.org/10.1002/ajh.2830130408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7158628">Moo-Penn et al. (1982)</a>, and <a href="#424" class="mim-tip-reference" title="Yongsuwan, S., Svasti, J., Fucharoen, S. <strong>Decreased heat stability found in purified hemoglobin Queens (alpha34(B15)leu-to-arg).</strong> Hemoglobin 11: 567-570, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3446653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3446653</a>] [<a href="https://doi.org/10.3109/03630268709027873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3446653">Yongsuwan et al. (1987)</a>. This has been shown to be a mutation of the HBA1 gene (<a href="#60" class="mim-tip-reference" title="Cash, F. E., Monplaisir, N., Goossens, M., Liebhaber, S. A. <strong>Locus assignment of two alpha-globin structural mutants from the Caribbean Basin: alpha Fort de France (alpha(45-arg)) and alpha Spanish Town (alpha(27-val)).</strong> Blood 74: 833-835, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752146</a>]" pmid="2752146">Cash et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3446653+7055587+7158628+2752146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0113" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0113 HEMOGLOBIN OLEANDER</strong>
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</span>
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</h4>
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</div>
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HBA1, GLU116GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33987053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33987053;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33987053?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33987053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33987053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63749882 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749882;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63749882?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63749882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63749882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017135" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017135" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017135</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#336" class="mim-tip-reference" title="Schneider, R. G., Hightower, B., Carpentieri, U., Duerst, M. L., Shih, T. B., Jones, R. T. <strong>Hemoglobin Oleander (alpha116 (GH4) glu-to-gln): structural and functional characterization.</strong> Hemoglobin 6: 465-480, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6129203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6129203</a>] [<a href="https://doi.org/10.3109/03630268209083760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6129203">Schneider et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6129203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0114" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0114 HEMOGLOBIN OTTAWA</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN SIAM
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLY15ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35816645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35816645;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35816645?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35816645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35816645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017136 OR RCV000017137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017136, RCV000017137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017136...</a>
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</span>
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<p>See <a href="#382" class="mim-tip-reference" title="Vella, F., Casey, R., Lehmann, H., Labossiere, A., Jones, T. G. <strong>Haemoglobin Ottawa: alpha 15 gly-to-arg.</strong> Biochim. Biophys. Acta 336: 25-29, 1974."None>Vella et al. (1974)</a> and <a href="#300" class="mim-tip-reference" title="Pootrakul, S., Srichiyanont, S., Wasi, P., Suanpan, S. <strong>Hemoglobin Siam (alpha 15 arg): a new alpha-chain variant.</strong> Humangenetik 23: 199-204, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4135957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4135957</a>]" pmid="4135957">Pootrakul et al. (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4135957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#423" class="mim-tip-reference" title="Yodsowan, B., Svasti, J., Srisomsap, C., Winichagoon, P., Fucharoen, S. <strong>Hb Siam [alpha-15(A13)gly-arg] is a GGT-CGT mutation in the alpha-1-globin gene.</strong> Hemoglobin 24: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10722119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10722119</a>] [<a href="https://doi.org/10.3109/03630260009002277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10722119">Yodsowan et al. (2000)</a> studied this variant in a 21-year-old Thai female and her mother. <a href="#377" class="mim-tip-reference" title="Turbpaiboon, C., Svasti, S., Sawangareetakul, P., Winichagoon, P., Srisomsap, C., Siritanaratkul, N., Fucharoen, S., Wilairat, P., Svasti, J. <strong>Hb Siam (alpha-15(A13)gly-to-arg(alpha-1) (GGT-to-CGT)) is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect.</strong> Hemoglobin 26: 77-81, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11939517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11939517</a>] [<a href="https://doi.org/10.1081/hem-120002944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11939517">Turbpaiboon et al. (2002)</a> reported a fourth case of Hb Siam in a healthy Thai female and concluded that there is no alpha-thalassemic effect of the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11939517+10722119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0115" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0115 HEMOGLOBIN OWARI</strong>
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</h4>
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HBA1, VAL121MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35187567 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35187567;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35187567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35187567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63751008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751008;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63751008?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017138 OR RCV000506427 OR RCV001275689 OR RCV001281703" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017138, RCV000506427, RCV001275689, RCV001281703" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017138...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This is a neutral-to-neutral change; it was detected in the course of mass screening by isoelectric focusing (<a href="#140" class="mim-tip-reference" title="Harano, T., Harano, K., Ueda, S. <strong>Hb Owari (alpha121 (H4) val-to-met): a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing.</strong> Hemoglobin 10: 127-134, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3754245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3754245</a>] [<a href="https://doi.org/10.3109/03630268609046439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3754245">Harano et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3754245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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<a id="0116" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0116 HEMOGLOBIN PERSPOLIS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP64TYR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33984024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33984024;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33984024?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33984024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33984024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017139" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017139" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017139</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#311" class="mim-tip-reference" title="Rahbar, S., Ala, F., Akhavan, E., Nowzari, G., Shoa'i, I., Zamanianpoor, M. H. <strong>Two new hemoglobins: hemoglobin Perspolis (alpha 64 (E13) asp-to-tyr) and hemoglobin J Kurosh (alpha 19 (AB) ala-to-asp).</strong> Biochim. Biophys. Acta 427: 119-125, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1259994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1259994</a>] [<a href="https://doi.org/10.1016/0005-2795(76)90290-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1259994">Rahbar et al. (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1259994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0117" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0117 HEMOGLOBIN PETAH TIKVA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA110ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63749948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749948;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63749948?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63749948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63749948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017140 OR RCV001811179 OR RCV002482880" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017140, RCV001811179, RCV002482880" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017140...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#165" class="mim-tip-reference" title="Honig, G. R., Shamsuddin, M., Zaizov, R., Steinherz, M., Solar, I., Kirschmann, C. <strong>Hemoglobin Petah Tikva (alpha 110 ala-to-asp): a new unstable variant with alpha-thalassemia-like expression.</strong> Blood 57: 705-711, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7470621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7470621</a>]" pmid="7470621">Honig et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7470621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0118" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0118 HEMOGLOBIN PONTOISE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN J (PONTOISE)
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
|
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HBA1, ALA63ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34502246 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34502246;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34502246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34502246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017141 OR RCV000017142" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017141, RCV000017142" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017141...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#371" class="mim-tip-reference" title="Thillet, J., Blouquit, Y., Perrone, F., Rosa, J. <strong>Hemoglobin Pontoise: alpha 63 ala-to-asp (E12): a new fast moving variant.</strong> Biochim. Biophys. Acta 491: 16-22, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849454</a>] [<a href="https://doi.org/10.1016/0005-2795(77)90036-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="849454">Thillet et al. (1977)</a> and <a href="#119" class="mim-tip-reference" title="Gonzalez Redondo, J. M., Wilson, J. B., Kutlar, A., Huisman, T. H. J., Sicilia, A., Romero, C., Fernandes Fuertes, I. <strong>Hb J-Pontoise or alpha63(E12)ala-to-asp in four members of a Spanish family.</strong> Hemoglobin 11: 47-50, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3583765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3583765</a>] [<a href="https://doi.org/10.3109/03630268709036582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3583765">Gonzalez Redondo et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=849454+3583765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0119" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0119 HEMOGLOBIN PORT PHILLIP</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU91PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34684963 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34684963;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34684963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34684963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017143" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017143" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017143</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#50" class="mim-tip-reference" title="Brennan, S. O., Tauro, G. P., Melrose, W., Carrell, R. W. <strong>Haemoglobin Port Phillip: alpha 91 (FG3) leu-to-pro, a new unstable hemoglobin.</strong> FEBS Lett. 81: 115-117, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/902765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">902765</a>] [<a href="https://doi.org/10.1016/0014-5793(77)80940-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="902765">Brennan et al. (1977)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=902765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0120" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0120 MOVED TO <a href="/entry/141850#0055">141850.0055</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0121" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0121 HEMOGLOBIN Q (INDIA)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP64HIS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33984024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33984024;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33984024?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33984024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33984024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017144 OR RCV000985707 OR RCV001275686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017144, RCV000985707, RCV001275686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017144...</a>
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<p>See <a href="#364" class="mim-tip-reference" title="Sukumaran, P. K., Merchant, S. M., Desai, M. P., Wiltshire, B. G., Lehmann, H. <strong>Haemoglobin Q India (alpha-64 (E13) aspartic acid to histidine). Associated with beta-thalassemia observed in three Sindhi families.</strong> J. Med. Genet. 9: 436-442, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4646552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4646552</a>] [<a href="https://doi.org/10.1136/jmg.9.4.436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4646552">Sukumaran et al. (1972)</a> and <a href="#330" class="mim-tip-reference" title="Schmidt, R. M., Bechtel, K. C., Moo-Penn, W. F. <strong>Hemoglobin Q(India), alpha 64 (E13) asp-to-his, and beta thalassemia in a Canadian family.</strong> Am. J. Clin. Path. 66: 446-448, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949043</a>] [<a href="https://doi.org/10.1093/ajcp/66.2.446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="949043">Schmidt et al. (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4646552+949043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0122" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0122 HEMOGLOBIN Q (IRAN)</strong>
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</h4>
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HBA1, ASP75HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33977363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33977363;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33977363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33977363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017145" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017145" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017145</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#235" class="mim-tip-reference" title="Lorkin, P. A., Charlesworth, D., Lehmann, H., Rahbar, S., Tuchinda, S., Lie-Injo, L. E. <strong>Two haemoglobins Q, alpha 74 (EF3) and alpha 75 (EF4) aspartic acid to histidine.</strong> Brit. J. Haemat. 19: 117-125, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5460202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5460202</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1970.tb01607.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5460202">Lorkin et al. (1970)</a>, <a href="#225" class="mim-tip-reference" title="Lie-Injo, L. E., Dozy, A. M., Kan, Y. W., Lopes, M., Todd, D. <strong>The alpha-globin gene adjacent to the gene for Hb Q (alpha 74 asp-to-his) is deleted, but not that adjacent to the gene for Hb G (alpha 30 glu-to-gln); three-fourths of the alpha-globin genes are deleted in Hb Q-alpha-thalassemia.</strong> Blood 54: 1407-1416, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508945</a>]" pmid="508945">Lie-Injo et al. (1979)</a>, and <a href="#156" class="mim-tip-reference" title="Higgs, D. R., Hunt, D. M., Drysdale, H. C., Clegg, J. B., Pressley, L., Weatherall, D. J. <strong>The genetic basis of Hb Q-H disease.</strong> Brit. J. Haemat. 46: 387-400, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7448125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7448125</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1980.tb05985.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7448125">Higgs et al. (1980)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=508945+7448125+5460202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0123" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0123 MOVED TO <a href="/entry/141850#0052">141850.0052</a></strong>
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</span>
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</h4>
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<br />
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<a id="0124" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0124 HEMOGLOBIN REIMS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU23GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33939421 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33939421;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33939421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33939421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017146" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017146" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017146</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>See <a href="#26" class="mim-tip-reference" title="Bardakdjian-Michau, J., Rosa, J., Galacteros, F., Lancelot, M., Marquart, F. X. <strong>Hb Reims (alpha23(B4)glu-to-gly): a new alpha chain variant with slightly decreased stability.</strong> Hemoglobin 13: 733-735, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2634669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2634669</a>] [<a href="https://doi.org/10.3109/03630268908998846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2634669">Bardakdjian-Michau et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2634669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0125" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0125 HEMOGLOBIN RUSS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLY51ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33960522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33960522;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33960522?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33960522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33960522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017147 OR RCV001283977" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017147, RCV001283977" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017147...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#174" class="mim-tip-reference" title="Huisman, T. H. J., Sydenstricker, V. P. <strong>Difference in gross structure of two electrophoretically identical 'minor' hemoglobin components.</strong> Nature 193: 489-491, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14449876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14449876</a>] [<a href="https://doi.org/10.1038/193489a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14449876">Huisman and Sydenstricker (1962)</a> and <a href="#317" class="mim-tip-reference" title="Reynolds, C. A., Huisman, T. H. J. <strong>Hemoglobin Russ or alpha-2 (51 arg) beta-2.</strong> Biochim. Biophys. Acta 130: 541-543, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5972865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5972865</a>]" pmid="5972865">Reynolds and Huisman (1966)</a>. This has been shown to be a mutation of the HBA1 gene (<a href="#60" class="mim-tip-reference" title="Cash, F. E., Monplaisir, N., Goossens, M., Liebhaber, S. A. <strong>Locus assignment of two alpha-globin structural mutants from the Caribbean Basin: alpha Fort de France (alpha(45-arg)) and alpha Spanish Town (alpha(27-val)).</strong> Blood 74: 833-835, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752146</a>]" pmid="2752146">Cash et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14449876+5972865+2752146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0126" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0126 HEMOGLOBIN SASSARI</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP126HIS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750950 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750950;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017148 OR RCV000641208" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017148, RCV000641208" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017148...</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p><a href="#248" class="mim-tip-reference" title="Masala, B., Manca, L., Stangoni, A., Cuccuru, G. B., Wilson, J. B., Webber, B. B., Kutlar, A., Huisman, T. H. J. <strong>Hb Sassari or alpha126 (H9) asp-to-his observed in a family from northern Sardinia.</strong> Hemoglobin 11: 373-378, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3667323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3667323</a>] [<a href="https://doi.org/10.3109/03630268709042855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3667323">Masala et al. (1987)</a> first described this variant as an electrophoretically slow-moving hemoglobin in 2 brothers affected by erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>) with slight microcytosis. In a large screening program involving 20,000 people in the city of Sassari and its surrounding area in Sardinia, <a href="#249" class="mim-tip-reference" title="Masala, B. <strong>Hemoglobinopathies in Sardinia.</strong> Hemoglobin 16: 331-351, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1517114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1517114</a>] [<a href="https://doi.org/10.3109/03630269208998879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1517114">Masala (1992)</a> found the variant in 3 other apparently unrelated subjects. A male of German origin was identified by <a href="#25" class="mim-tip-reference" title="Bardakdjian-Michau, J., Galacteros, F., Craescu, C. T. <strong>Functional and NMR studies of Hb Sassari (asp126-alpha-to-his): role of the inter-subunit contacts in the affinity control of human hemoglobin.</strong> Biochim. Biophys. Acta 1041: 250-253, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268670</a>] [<a href="https://doi.org/10.1016/0167-4838(90)90279-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2268670">Bardakdjian-Michau et al. (1990)</a> as a carrier of the same mutation. <a href="#326" class="mim-tip-reference" title="Sanna, M. T., Giardina, B., Scatena, R., Pellegrini, M., Olianas, A., Manca, L., Masala, B., Castagnola, M., Corda, M. <strong>Functional alterations in adult and fetal hemoglobin Sassari asp-alpha-126(H9)-to-his: the role of alpha-1-alpha-2 contact.</strong> J. Biol. Chem. 269: 18338-18342, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7518430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7518430</a>]" pmid="7518430">Sanna et al. (1994)</a> demonstrated that the adult variant has increased oxygen affinity, a dramatic reduction of homotropic interactions, and a significant decrease of the effect of 2,3-diphosphoglycerate (35% lower than that observed for Hb A). The fetal variant also showed increased oxygen affinity compared with normal Hb F and an almost abolished heme-heme interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3667323+1517114+7518430+2268670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#292" class="mim-tip-reference" title="Paglietti, E., Barella, S., Satta, S., Perra, C., Cao, A., Galanello, R. <strong>Hb Sassari [alpha-126(H9)asp-to-his] results from a GAC-to-CAC mutation in the alpha-1-globin gene.</strong> Hemoglobin 22: 65-67, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9494049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9494049</a>] [<a href="https://doi.org/10.3109/03630269809071518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9494049">Paglietti et al. (1998)</a> demonstrated that Hb Sassari results from a GAC (asp)-to-CAC (his) mutation in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9494049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0127 HEMOGLOBIN SAVARIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41518249 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41518249;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41518249?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41518249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41518249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017149 OR RCV002476984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017149, RCV002476984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017149...</a>
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<p>See <a href="#369" class="mim-tip-reference" title="Szelenyi, J. G., Horanyi, M., Foldi, J., Hudacsek, J., Istvan, L., Hollan, S. R. <strong>A new hemoglobin variant in Hungary: Hb Savaria-alpha 49 (CE7) ser-to-arg.</strong> Hemoglobin 4: 27-38, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7353957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7353957</a>] [<a href="https://doi.org/10.3109/03630268009042371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7353957">Szelenyi et al. (1980)</a>, <a href="#189" class="mim-tip-reference" title="Juricic, D., Efremov, G. D., Wilson, J. B., Huisman, T. H. J. <strong>Hb Savaria or alpha49(CE7)ser-to-arg in a Yugoslavian family.</strong> Hemoglobin 9: 631-633, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3937826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3937826</a>] [<a href="https://doi.org/10.3109/03630268508997046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3937826">Juricic et al. (1985)</a>, <a href="#286" class="mim-tip-reference" title="Ojwang, P. J., Ogada, T., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Hb Savaria or alpha(2)49(CE7) ser-to-arg in an indigenous female from Kenya.</strong> Hemoglobin 9: 197-200, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839775</a>] [<a href="https://doi.org/10.3109/03630268508997004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839775">Ojwang et al. (1985)</a>, and <a href="#361" class="mim-tip-reference" title="Suarez, C. R., Jue, D. L., Moo-Penn, W. F. <strong>Hemoglobin Savaria--alpha49(CE7)ser-to-arg in the United States.</strong> Hemoglobin 9: 627-629, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3937825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3937825</a>] [<a href="https://doi.org/10.3109/03630268508997045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3937825">Suarez et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3937826+3839775+7353957+3937825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33986902 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33986902;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33986902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33986902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>No pathologic effects were observed (<a href="#366" class="mim-tip-reference" title="Sumida, I., Ohta, Y., Imamura, T., Yanase, T. <strong>Hemoglobin Sawara: alpha 6 (A4) aspartic acid leads to alanine.</strong> Biochim. Biophys. Acta 322: 23-26, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4744335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4744335</a>] [<a href="https://doi.org/10.1016/0005-2795(73)90169-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4744335">Sumida et al., 1973</a>; <a href="#367" class="mim-tip-reference" title="Sumida, I. <strong>Studies of abnormal hemoglobins in western Japan: frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha26ala-beta2) and hemoglobin Mugino (Hb L Ferrara; alpha247gly-beta2).</strong> Jpn. J. Hum. Genet. 19: 343-363, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1241593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1241593</a>]" pmid="1241593">Sumida, 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1241593+4744335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0129 MOVED TO <a href="/entry/141850#0028">141850.0028</a></strong>
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<strong>.0130 HEMOGLOBIN SETIF</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34102339 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34102339;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34102339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34102339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017151</a>
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<p>See <a href="#391" class="mim-tip-reference" title="Wajcman, H., Belkhodja, O., Labie, D. <strong>Hb Setif: G1 (94) alpha--asp-to-tyr. A new chain hemoglobin variant with substitution of the residue involved in a hydrogen bond between unlike subunits.</strong> FEBS Lett. 27: 298-300, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4667378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4667378</a>] [<a href="https://doi.org/10.1016/0014-5793(72)80645-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4667378">Wajcman et al. (1972)</a>, <a href="#275" class="mim-tip-reference" title="Nozari, G., Rahbar, S., Darbre, P., Lehmann, H. <strong>Hemoglobin Setif (alpha 94 (G1) asp-to-tyr) in Iran--a report of 9 cases.</strong> Hemoglobin 1: 289-291, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/893131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">893131</a>] [<a href="https://doi.org/10.3109/03630267709003412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="893131">Nozari et al. (1977)</a>, <a href="#11" class="mim-tip-reference" title="Al-Awamy, B., Niazi, G. A., Wilson, J. B., Huisman, T. H. J. <strong>Hb Setif or alpha94(G1)asp-to-tyr observed in a Saudi Arabian family.</strong> Hemoglobin 9: 87-90, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3997545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3997545</a>] [<a href="https://doi.org/10.3109/03630268508996987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3997545">Al-Awamy et al. (1985)</a>, and <a href="#2" class="mim-tip-reference" title="Abdo, M. Z. <strong>Hb Setif (alpha94(G1)asp-to-tyr) in a Saudi Arabian family.</strong> Hemoglobin 13: 737-742, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2634670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2634670</a>] [<a href="https://doi.org/10.3109/03630268908998847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2634670">Abdo (1989)</a>. <a href="#329" class="mim-tip-reference" title="Schiliro, G., Russo-Mancuso, G., Dibenedetto, S. P., Samperi, P., Di Cataldo, A., Ragusa, R., Testa, R. <strong>Six rare hemoglobin variants found in Sicily.</strong> Hemoglobin 15: 431-437, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1802885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1802885</a>] [<a href="https://doi.org/10.3109/03630269108998862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1802885">Schiliro et al. (1991)</a> found this hemoglobin variant in Sicily. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1802885+2634670+4667378+893131+3997545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#90" class="mim-tip-reference" title="Dincol, G., Elam, D., Kutlar, A., Kutlar, F. <strong>Hb Setif [alpha-94(G1)asp-to-tyr (alpha-2)] detected in a Turkish family.</strong> Hemoglobin 27: 249-252, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14649316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14649316</a>] [<a href="https://doi.org/10.1081/hem-120026050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14649316">Dincol et al. (2003)</a> stated that Hb Setif was first described in an Algerian family (<a href="#391" class="mim-tip-reference" title="Wajcman, H., Belkhodja, O., Labie, D. <strong>Hb Setif: G1 (94) alpha--asp-to-tyr. A new chain hemoglobin variant with substitution of the residue involved in a hydrogen bond between unlike subunits.</strong> FEBS Lett. 27: 298-300, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4667378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4667378</a>] [<a href="https://doi.org/10.1016/0014-5793(72)80645-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4667378">Wajcman et al., 1972</a>) and subsequently in Iranian, African, Saudi Arabian, and Maltese populations. They identified the variant in a Turkish family. Heterozygotes were asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14649316+4667378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0131" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0131 HEMOGLOBIN SHAARE ZEDEK</strong>
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</h4>
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<span class="mim-text-font">
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HBA1, LYS56GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34182019 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34182019;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34182019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34182019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017152" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017152" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017152</a>
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</span>
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<p>See <a href="#3" class="mim-tip-reference" title="Abramov, A., Lehmann, H., Robb, L. <strong>Hb Shaare Zedek (alpha56 E5 lys-to-glu).</strong> FEBS Lett. 113: 235-237, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7389895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7389895</a>] [<a href="https://doi.org/10.1016/0014-5793(80)80599-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7389895">Abramov et al. (1980)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7389895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0132" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0132 HEMOGLOBIN SHENYANG</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA26GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35477770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35477770;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35477770?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35477770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35477770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017153" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017153" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017153</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#428" class="mim-tip-reference" title="Zeng, Y., Huang, S., Zhou, X., Qiu, X., Dong, Q., Li, M., Bai, J. <strong>Hb Shenyang (alpha26 (B7) ala-to-glu): a new unstable variant found in China.</strong> Hemoglobin 6: 625-628, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7161109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7161109</a>]" pmid="7161109">Zeng et al. (1982)</a> and <a href="#421" class="mim-tip-reference" title="Yi, C. H., Li, H. J., Li, H. W., Zhang, X. S., Zhao, X. N., Zhang, C. T. <strong>Hemoglobin Shenyang found among Uygurs in P.R. China.</strong> Hemoglobin 13: 97-99, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2703370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2703370</a>] [<a href="https://doi.org/10.3109/03630268908998059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2703370">Yi et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2703370+7161109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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<div>
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<a id="0133" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0133 HEMOGLOBIN SHIMONOSEKI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEMOGLOBIN HIKOSHIMA
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLN54ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs36024711 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36024711;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36024711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36024711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017154 OR RCV000017155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017154, RCV000017155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017154...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#419" class="mim-tip-reference" title="Yamaoka, K., Kawamura, K., Hanada, M., Seita, M., Hitsumoto, S., Ooya, I. <strong>Studies on abnormal haemoglobins.</strong> Jpn. J. Hum. Genet. 5: 99-111, 1960."None>Yamaoka et al. (1960)</a> and <a href="#127" class="mim-tip-reference" title="Hanada, M., Rucknagel, D. L. <strong>The characterization of hemoglobin Shimonoseki.</strong> Blood 24: 624-635, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14236737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14236737</a>]" pmid="14236737">Hanada and Rucknagel (1964)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14236737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0134" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0134 HEMOGLOBIN SHUANGFENG</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU27LYS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34776279 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34776279;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34776279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34776279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017156" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017156" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017156</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#221" class="mim-tip-reference" title="Liang, C., Tao, H., Lo, H., Huang, S., Li, R., Wang, B. <strong>Hemoglobin Shuangfeng (alpha27 (B8) glu-to-lys): a new unstable hemoglobin variant.</strong> Hemoglobin 5: 691-700, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338471</a>] [<a href="https://doi.org/10.3109/03630268108991837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7338471">Liang et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7338471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0135" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0135 HEMOGLOBIN SINGAPORE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ARG141PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33935328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33935328;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33935328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33935328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63751282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751282;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63751282?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017157 OR RCV004998098" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017157, RCV004998098" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017157...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#67" class="mim-tip-reference" title="Clegg, J. B., Weatherall, D. J., Boon, W. H., Mustafa, D. <strong>Two new haemoglobin variants involving proline substitutions.</strong> Nature 222: 379-380, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5782115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5782115</a>] [<a href="https://doi.org/10.1038/222379a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5782115">Clegg et al. (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5782115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0136 MOVED TO <a href="/entry/141850#0009">141850.0009</a></strong>
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<strong>.0137 HEMOGLOBIN ST. CLAUDE</strong>
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HBA1, LYS127THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35431217 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35431217;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35431217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35431217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63751308 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751308;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017158</a>
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<p>See <a href="#382" class="mim-tip-reference" title="Vella, F., Casey, R., Lehmann, H., Labossiere, A., Jones, T. G. <strong>Haemoglobin Ottawa: alpha 15 gly-to-arg.</strong> Biochim. Biophys. Acta 336: 25-29, 1974."None>Vella et al. (1974)</a>.</p>
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<strong>.0138 HEMOGLOBIN ST. LUKE'S</strong>
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HBA1, PRO95ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33931314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33931314;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33931314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33931314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017159 OR RCV001800310" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017159, RCV001800310" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017159...</a>
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<p>See <a href="#22" class="mim-tip-reference" title="Bannister, W. H., Grech, J. L., Plese, C. F., Smith, L. L., Barton, B. P., Wilson, J. B., Reynolds, C. A., Huisman, T. H. J. <strong>Hemoglobin St. Luke's or alpha 95 arg (G2).</strong> Europ. J. Biochem. 29: 301-307, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5081617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5081617</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1972.tb01989.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5081617">Bannister et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5081617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#97" class="mim-tip-reference" title="Felice, A. E. <strong>Hb St. Luke's (alpha-95(G2)pro-to-arg (alpha-1)). (Letter)</strong> Hemoglobin 27: 137 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779278</a>] [<a href="https://doi.org/10.1081/hem-120021550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12779278">Felice (2003)</a> cited evidence that Hb St. Luke's is a mutation of the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12779278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0139 HEMOGLOBIN STANLEYVILLE-II</strong>
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HBA1, ASN78LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34440919 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34440919;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34440919?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34440919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34440919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017160" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017160" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017160</a>
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<p>See <a href="#378" class="mim-tip-reference" title="Van Ros, G., Beale, D., Lehmann, H. <strong>Hemoglobin Stanleyville-II (alpha 78 asparagine to lysine).</strong> Brit. Med. J. 4: 92-93, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5696551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5696551</a>] [<a href="https://doi.org/10.1136/bmj.4.5623.92" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5696551">Van Ros et al. (1968)</a>, <a href="#274" class="mim-tip-reference" title="North, M. L., Hassan, W., Thillet, J., Schwartz, M., Taubert, C., Ritter, J., Gandar, R., Rosa, J. <strong>Etude clinique et biologique d'un cas d'hemoglobine hybride S-Stanleyville II (alpha 78 asn-to-lys, beta 6 glu-to-val).</strong> Nouv. Rev. Franc. Hemat. 22: 235-241, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782549</a>]" pmid="6782549">North et al. (1980)</a>, and <a href="#318" class="mim-tip-reference" title="Rhoda, M.-D., Martin, J., Blouquit, Y., Garel, M.-C., Edelstein, S. J., Rosa, J. <strong>Sickle cell hemoglobin fiber formation strongly inhibited by the Stanleyville II mutation (alpha78 asn-to-lys).</strong> Biochem. Biophys. Res. Commun. 111: 8-13, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6681956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6681956</a>] [<a href="https://doi.org/10.1016/s0006-291x(83)80109-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6681956">Rhoda et al. (1983)</a>. <a href="#72" class="mim-tip-reference" title="Costa, F. F., Sonati, M. F., Zago, M. A. <strong>Hemoglobin Stanleyville II (alpha-78 asn-to-lys) is associated with a 3.7-kb alpha-globin gene deletion.</strong> Hum. Genet. 86: 319-320, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1671772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1671772</a>] [<a href="https://doi.org/10.1007/BF00202420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1671772">Costa et al. (1991)</a> described a family with 1 homozygote and 3 heterozygotes for Hb Stanleyville II. The pattern of restriction fragments demonstrated an associated 3.7-kb alpha-globin gene deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5696551+6681956+6782549+1671772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0140 HEMOGLOBIN STRUMICA</strong>
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HEMOGLOBIN SERBIA
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HBA1, HIS112ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34713708 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34713708;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34713708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34713708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017161 OR RCV000017162" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017161, RCV000017162" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017161...</a>
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<p>See <a href="#273" class="mim-tip-reference" title="Niazi, G. A., Efremov, G. D., Nikolov, N., Hunter, E., Jr., Huisman, T. H. J. <strong>Hemoglobin Strumica or alpha 112(G19) his-to-arg. (with an addendum: hemoglobin J-Paris-I, alpha 12(A10) ala-to-asp, in the same population).</strong> Biochim. Biophys. Acta 412: 181-186, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1191675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1191675</a>] [<a href="https://doi.org/10.1016/0005-2795(75)90350-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1191675">Niazi et al. (1975)</a> and <a href="#34" class="mim-tip-reference" title="Beksedic, D., Rajevska, T., Lorkin, P. A., Lehmann, H. <strong>Hb Serbia (alpha112 his-to-arg), a new haemoglobin variant from Yugoslavia.</strong> FEBS Lett. 58: 226-229, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1225585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1225585</a>] [<a href="https://doi.org/10.1016/0014-5793(75)80265-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1225585">Beksedic et al. (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1225585+1191675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0141 MOVED TO <a href="/entry/141850#0007">141850.0007</a></strong>
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<strong>.0142 MOVED TO <a href="/entry/141850#0017">141850.0017</a></strong>
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<strong>.0143 HEMOGLOBIN SUNSHINE SETH</strong>
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HBA1, ASP94HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34102339 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34102339;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34102339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34102339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017163 OR RCV000985709" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017163, RCV000985709" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017163...</a>
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</span>
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<p>See <a href="#339" class="mim-tip-reference" title="Schroeder, W. A., Shelton, J. B., Shelton, J. R., Powars, D. <strong>Hemoglobin Sunshine Seth (alpha94 asp-to-his).</strong> Hemoglobin 3: 145-159, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/478976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">478976</a>] [<a href="https://doi.org/10.3109/03630267908998910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="478976">Schroeder et al. (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=478976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0144" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0144 HEMOGLOBIN SURESNES</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ARG141HIS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33935328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33935328;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33935328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33935328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63751282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751282;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63751282?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017164 OR RCV000641216" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017164, RCV000641216" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017164...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#302" class="mim-tip-reference" title="Poyart, C., Krishnamoorthy, R., Bursaux, E., Gacon, G., Labie, D. <strong>Structural and functional studies of haemoglobin Suresnes or alpha 141 (HC3) arg-to-his, a new high oxygen affinity mutant.</strong> FEBS Lett. 69: 103-107, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11123</a>] [<a href="https://doi.org/10.1016/0014-5793(76)80663-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11123">Poyart et al. (1976)</a> and <a href="#324" class="mim-tip-reference" title="Saenz, G. F., Alvarado, M., Arroyo, G., Alfaro, E., Montero, G., Jimenez, J., Martinez, G., Lima, F., Colombo, B. <strong>Hemoglobin Suresnes in a Costa-Rican woman of Spanish-Indian ancestry.</strong> Hemoglobin 2: 383-387, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/701092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">701092</a>] [<a href="https://doi.org/10.3109/03630267809005347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="701092">Saenz et al. (1978)</a>. Erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>) is a clinical feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=701092+11123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0145" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0145 HEMOGLOBIN SWAN RIVER</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ERYTHROCYTOSIS 7, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP6GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33986902 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33986902;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33986902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33986902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017165 OR RCV000641218 OR RCV001811180 OR RCV001831579" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017165, RCV000641218, RCV001811180, RCV001831579" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017165...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#263" class="mim-tip-reference" title="Moo-Penn, W. F., Jue, D. L., Johnson, M. H., Therrell, B. L. <strong>Hemoglobin Swan River (alpha6(A4)asp-to-gly).</strong> Hemoglobin 11: 61-62, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3583768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3583768</a>] [<a href="https://doi.org/10.3109/03630268709036585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3583768">Moo-Penn et al. (1987)</a>. <a href="#131" class="mim-tip-reference" title="Harano, T., Harano, K., Imai, K., Terunuma, S. <strong>Hb Swan River (alpha6(A4)asp-to-gly) observed in a Japanese man.</strong> Hemoglobin 20: 75-78, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745434</a>] [<a href="https://doi.org/10.3109/03630269609027912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8745434">Harano et al. (1996)</a> observed this variant in a Japanese man with mild polycythemia (ECYT7; <a href="/entry/617981">617981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3583768+8745434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0146" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0146 MOVED TO <a href="/entry/141850#0037">141850.0037</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0147" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0147 HEMOGLOBIN THAILAND</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS56THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33949106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33949106;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33949106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33949106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017166" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017166" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017166</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#297" class="mim-tip-reference" title="Pootrakul, S., Boonyarat, D., Kematorn, B., Suanpan, S., Wasi, P. <strong>Hemoglobin Thailand (alpha 56 (E5) lys-to-thr): a new abnormal human hemoglobin.</strong> Hemoglobin 1: 781-798, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/604316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">604316</a>] [<a href="https://doi.org/10.3109/03630267709003907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="604316">Pootrakul et al. (1977)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=604316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0148" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0148 HEMOGLOBIN TITUSVILLE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP94ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34102339 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34102339;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34102339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34102339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017167" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017167" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017167</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#334" class="mim-tip-reference" title="Schneider, R. G., Atkins, R. J., Hosty, T. S., Tomlin, G., Casey, R., Lehmann, P. A., Lorkin, P. A., Nagai, K. <strong>Haemoglobin Titusville (alpha 94 asp-to-asn): a new haemoglobin with a lowered affinity for oxygen.</strong> Biochim. Biophys. Acta 400: 365-373, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1164512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1164512</a>]" pmid="1164512">Schneider et al. (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1164512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0149" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<strong>.0149 HEMOGLOBIN TOKONAME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS139THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34849179 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34849179;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34849179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34849179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs56348461 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs56348461;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs56348461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs56348461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017168" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017168" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017168</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#134" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M. <strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong> Hemoglobin 7: 85-90, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188720</a>] [<a href="https://doi.org/10.3109/03630268309038404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188720">Harano et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6188720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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<a id="0150" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0150 HEMOGLOBIN TORINO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, PHE43VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35511459 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35511459;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35511459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35511459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017169" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017169" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017169</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#35" class="mim-tip-reference" title="Beretta, A., Prato, V., Gallo, E., Lehmann, H. <strong>Haemoglobin Torino--alpha 43 (CD 1) phenylalanine replaced by valine.</strong> Nature 217: 1016-1018, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5643522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5643522</a>] [<a href="https://doi.org/10.1038/2171016a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5643522">Beretta et al. (1968)</a> and <a href="#303" class="mim-tip-reference" title="Prato, V., Gallo, E., Ricco, G., Mazza, U., Bianco, G., Lehmann, H. <strong>Haemolytic anaemia due to haemoglobin Torino.</strong> Brit. J. Haemat. 19: 105-115, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5453914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5453914</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1970.tb01606.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5453914">Prato et al. (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5643522+5453914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0151" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0151 HEMOGLOBIN TOTTORI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLY59VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928878 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928878;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017170" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017170" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017170</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#270" class="mim-tip-reference" title="Nakatsuji, T., Miwa, S., Ohba, Y., Miyaji, T., Matsumoto, N., Matsuoka, I. <strong>Hemoglobin Tottori (alpha59 (E8) glycine-to-valine): a new unstable hemoglobin.</strong> Hemoglobin 5: 427-439, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7275660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7275660</a>] [<a href="https://doi.org/10.3109/03630268108991818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7275660">Nakatsuji et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7275660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0152" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0152 HEMOGLOBIN TOYAMA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HEINZ BODY HEMOLYTIC ANEMIA
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU136ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34635364 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34635364;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34635364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34635364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41469945 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41469945;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41469945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41469945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017171 OR RCV000017172" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017171, RCV000017172" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017171...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This hemoglobin variant is associated with congenital Heinz body anemia (<a href="#284" class="mim-tip-reference" title="Ohba, Y., Yamamoto, K., Kawata, R., Miyaji, T. <strong>Hyperunstable hemoglobin Toyama, alpha136 (H19) leu to arg detection and identification by in vitro biosynthesis with radioactive amino acids.</strong> Hemoglobin 11: 539-556, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2833478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2833478</a>] [<a href="https://doi.org/10.3109/03630268709027870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2833478">Ohba et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2833478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0153" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>.0153 HEMOGLOBIN TWIN PEAKS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU113HIS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35654345 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35654345;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35654345?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35654345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35654345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017173 OR RCV001811181 OR RCV004755739" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017173, RCV001811181, RCV004755739" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017173...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#124" class="mim-tip-reference" title="Guis, M., Mentzer, W. C., Jue, D. L., Johnson, M. H., McGuffey, J. E., Moo-Penn, W. F. <strong>Hemoglobin Twin Peaks: alpha113(GH1) leu-to-his.</strong> Hemoglobin 9: 175-177, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839772</a>] [<a href="https://doi.org/10.3109/03630268508996999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839772">Guis et al. (1985)</a>. This has been shown to be a mutation of the HBA1 gene (<a href="#60" class="mim-tip-reference" title="Cash, F. E., Monplaisir, N., Goossens, M., Liebhaber, S. A. <strong>Locus assignment of two alpha-globin structural mutants from the Caribbean Basin: alpha Fort de France (alpha(45-arg)) and alpha Spanish Town (alpha(27-val)).</strong> Blood 74: 833-835, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752146</a>]" pmid="2752146">Cash et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3839772+2752146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0154" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0154 HEMOGLOBIN UBE-2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASN68ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34823698 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34823698;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34823698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34823698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017176 OR RCV001800311 OR RCV004586015" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017176, RCV001800311, RCV004586015" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017176...</a>
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<p>See <a href="#255" class="mim-tip-reference" title="Miyaji, T., Iuchi, I., Yamamoto, K., Ohba, Y., Shibata, S. <strong>Amino acid substitution of hemoglobin Ube 2 (alpha 68 asp): an example of successful application of partial hydrolysis of peptide with 5 percent acetic acid.</strong> Clin. Chim. Acta 16: 347-352, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6035181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6035181</a>] [<a href="https://doi.org/10.1016/0009-8981(67)90298-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6035181">Miyaji et al. (1967)</a>. In Turkey, <a href="#37" class="mim-tip-reference" title="Bilginer, A., Lehmann, H., Arcasoy, A. <strong>Hemoglobin Ube-2 (alpha68 asn-to-asp) observed in a Turkish family.</strong> Hemoglobin 8: 189-191, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6469696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6469696</a>] [<a href="https://doi.org/10.3109/03630268408991712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6469696">Bilginer et al. (1984)</a> found the first instance of Hb Ube-2 outside Japan. It occurred in other members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6469696+6035181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Cotton, F., Hansen, V., Lin, C., Parma, J., Cochaux, P., Damis, E., Vertongen, F., Gulbis, B. <strong>Hb Ube-2 [alpha-68(E17)asn-asp] and Hb Hafnia [beta-116(G18)his-gln] observed during neonatal screening in Brussels.</strong> Hemoglobin 24: 65-69, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10722118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10722118</a>] [<a href="https://doi.org/10.3109/03630260009002276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10722118">Cotton et al. (2000)</a> found this rare variant during universal neonatal screening. The patients had normal hematologic parameters. The variant was found in twins and an older sister and in the father; both parents were of Belgian ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10722118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#354" class="mim-tip-reference" title="Shin, M.-C., Chen, C.-M., Liu, S.-C., Huang, C.-H., Lee, T.-P., Chan, W.-L., Chang, J.-G. <strong>Hb UBE-2 in a Taiwanese subject: an A-to-G substitution at codon 68 of the alpha-2-globin gene.</strong> Hemoglobin 26: 99-101, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11939522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11939522</a>] [<a href="https://doi.org/10.1081/hem-120002949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11939522">Shin et al. (2002)</a> described the disorder in a Taiwanese subject. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11939522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0155 HEMOGLOBIN UBE-4</strong>
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HBA1, GLU116ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35932809 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35932809;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35932809?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35932809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35932809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017177 OR RCV001811182" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017177, RCV001811182" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017177...</a>
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<p>See <a href="#280" class="mim-tip-reference" title="Ohba, Y., Miyaji, T., Matsuoka, M., Morito, M., Iuchi, I. <strong>Characterization of Hb Ube-4: alpha 116 (GH4) glu-to-ala.</strong> Hemoglobin 2: 181-186, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640856</a>] [<a href="https://doi.org/10.3109/03630267809074785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="640856">Ohba et al. (1978)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=640856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0156" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0156 HEMOGLOBIN WESTMEAD</strong>
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</h4>
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HBA1, HIS122GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41479347 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41479347;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41479347?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41479347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41479347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000985723 OR RCV001275681 OR RCV002282188 OR RCV002476016 OR RCV003147491 OR RCV003147492 OR RCV003147493" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000985723, RCV001275681, RCV002282188, RCV002476016, RCV003147491, RCV003147492, RCV003147493" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000985723...</a>
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<p>This variant was found in a Chinese woman (<a href="#102" class="mim-tip-reference" title="Fleming, P. J., Hughes, W. G., Farmilo, R. K., Wyatt, K., Cooper, W. N. <strong>Hemoglobin Westmead (alpha 122(H5) his-to-gln): a new hemoglobin variant with the substitution in the alpha-beta contact area.</strong> Hemoglobin 4: 39-52, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6153381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6153381</a>] [<a href="https://doi.org/10.3109/03630268009042372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6153381">Fleming et al., 1980</a>). See <a href="#224" class="mim-tip-reference" title="Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y. J., Kutlar, F., Wilson, J. B., Webber, B. B., Hu, H., Huisman, T. H. J. <strong>Hb Duan (alpha-75(EF4)asp-to-ala), Hb Westmead (alpha-122(H5)his-to-gln), and alpha-thalassemia-2 (-4.2 kb deletion) in a Chinese family.</strong> Hemoglobin 12: 13-21, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384694</a>] [<a href="https://doi.org/10.3109/03630268808996878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3384694">Liang et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6153381+3384694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0157" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0157 HEMOGLOBIN WINNIPEG</strong>
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</span>
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</h4>
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HBA1, ASP75TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33977363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33977363;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33977363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33977363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017179 OR RCV001811183" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017179, RCV001811183" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017179...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#386" class="mim-tip-reference" title="Vella, F., Wiltshire, B., Lehmann, H., Galbraith, P. <strong>Hemoglobin Winnipeg.</strong> Clin. Biochem. 6: 66-70, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4728965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4728965</a>] [<a href="https://doi.org/10.1016/s0009-9120(73)80014-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4728965">Vella et al. (1973)</a> and <a href="#269" class="mim-tip-reference" title="Nakatsuji, T., Abraham, B. L., Lam, H., Wilson, J. B., Huisman, T. H. J. <strong>Hb Winnipeg or alpha75 (EF4) asp-to-tyr in a large Caucasian family living in Georgia, USA.</strong> Hemoglobin 7: 105-110, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6841125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6841125</a>] [<a href="https://doi.org/10.3109/03630268309038407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6841125">Nakatsuji et al. (1983)</a>. This has been shown to be a mutation of the HBA1 gene (<a href="#60" class="mim-tip-reference" title="Cash, F. E., Monplaisir, N., Goossens, M., Liebhaber, S. A. <strong>Locus assignment of two alpha-globin structural mutants from the Caribbean Basin: alpha Fort de France (alpha(45-arg)) and alpha Spanish Town (alpha(27-val)).</strong> Blood 74: 833-835, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752146</a>]" pmid="2752146">Cash et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6841125+2752146+4728965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<div>
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<a id="0158" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0158 HEMOGLOBIN WOODVILLE</strong>
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</span>
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</h4>
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HBA1, ASP6TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33961916 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33961916;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33961916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33961916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017180" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017180" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017180</a>
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</span>
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<span class="mim-text-font">
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<p>Since alpha-6 asp is involved in salt linkage with alpha-127 lys of the same chain, the increased oxygen affinity of hemoglobin variants at this position probably reflects loss of this salt bridge in the deoxy state. Similar changes have been observed for Hb St. Claude which also cannot form the salt bridge because of substitution of threonine for lysine at alpha-127. See <a href="#70" class="mim-tip-reference" title="Como, P. F., Barber, S., Sage, R. E., Kronenberg, H. <strong>Hemoglobin Woodville: alpha6 (A4) aspartic acid-to-tyrosine.</strong> Hemoglobin 10: 135-141, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3754246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3754246</a>] [<a href="https://doi.org/10.3109/03630268609046440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3754246">Como et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3754246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0159" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0159 HEMOGLOBIN WUMING</strong>
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</h4>
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<span class="mim-text-font">
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HEMOGLOBIN J (WENCHANG-WUMING)
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HBA1, LYS11GLN
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33938574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33938574;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33938574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33938574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017174 OR RCV000017175" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017174, RCV000017175" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017174...</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#426" class="mim-tip-reference" title="Zeng, Y., Huang, S., Liang, X., Long, G., Lam, H., Wilson, J. B., Huisman, T. H. J. <strong>Hb Wuming or alpha11 (A9) lys-to-gln.</strong> Hemoglobin 5: 679-687, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338470</a>] [<a href="https://doi.org/10.3109/03630268108991835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7338470">Zeng et al. (1981)</a>. <a href="#309" class="mim-tip-reference" title="Qualtieri, A., De Marco, E. V., Crescibene, L., Andreoli, V., Bagala, A., Scornaienchi, M., Brancati, C., Greco, C. M. <strong>Hb J-Wenchang-Wuming or alpha-11(A9)lys-to-gln in an Italian woman.</strong> Hemoglobin 19: 277-280, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537231</a>] [<a href="https://doi.org/10.3109/03630269509005814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8537231">Qualtieri et al. (1995)</a> found this fast-migrating hemoglobin variant in a pregnant woman living in Italy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8537231+7338470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0160" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0160 HEMOGLOBIN ZAMBIA</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS60ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281860659 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860659;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281860659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281860659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017181" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017181" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017181</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#23" class="mim-tip-reference" title="Barclay, G. P. T., Charlesworth, D., Lehmann, H. <strong>Abnormal haemoglobins in Zambia: a new hemoglobin Zambia alpha-60 (E9) lysine to asparagine.</strong> Brit. Med. J. 4: 595-596, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5356548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5356548</a>] [<a href="https://doi.org/10.1136/bmj.4.5683.586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5356548">Barclay et al. (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5356548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="0161" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0161 HEMOGLOBIN BELLIARD</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS56ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281860657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860657;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281860657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281860657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017182" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017182" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017182</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#394" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., Galacteros, F. <strong>A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha-135(H18)val-to-glu].</strong> Clin. Chim. Acta 188: 39-48, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347082</a>] [<a href="https://doi.org/10.1016/0009-8981(90)90144-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347082">Wajcman et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0162" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0162 HEMOGLOBIN TONOSHO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA110THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34629158 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34629158;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34629158?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34629158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34629158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017183" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017183" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017183</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the course of measuring hemoglobin A1c by automated cation exchange high performance liquid chromatography, <a href="#277" class="mim-tip-reference" title="Ohba, Y., Fujisawa, K., Imai, K., Leowattana, W., Tani, Y., Ami, M., Miyaji, T. <strong>A new alpha chain variant Hb Tonosho [alpha110(G17)ala-to-thr]: subunit dissociation during cation exchange chromatography for Hb A1c assay.</strong> Hemoglobin 14: 413-422, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2283295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2283295</a>] [<a href="https://doi.org/10.3109/03630269009032001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2283295">Ohba et al. (1990)</a> detected a new alpha-chain variant: substitution of alanine by threonine at position 110. The abnormal alpha chain comprised about 14% of the total alpha chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2283295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0163" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0163 HEMOGLOBIN FUKUTOMI</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP126VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33957766 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33957766;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33957766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33957766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750467 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750467;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017184" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017184" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017184</a>
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This hemoglobin, which has a high affinity for oxygen, was detected in a Japanese male during a screening survey. The proband was a 53-year-old man with liver cirrhosis and hemorrhagic gastritis (<a href="#154" class="mim-tip-reference" title="Hidaka, K., Iuchi, I., Kobayashi, T., Katoh, K., Yaguchi, K. <strong>Hb Fukutomi (alpha126(H9)asp-to-val): a new hemoglobin variant with high oxygen affinity.</strong> Hemoglobin 14: 499-509, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079432</a>] [<a href="https://doi.org/10.3109/03630269009005803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2079432">Hidaka et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2079432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0164" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0164 HEMOGLOBIN PORT HURON</strong>
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</span>
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</h4>
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</div>
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HBA1, LYS56ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33949106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33949106;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33949106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33949106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017185" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017185" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017185</a>
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<p><a href="#432" class="mim-tip-reference" title="Zwerdling, T., Williams, S., Nasr, S. A., Rucknagel, D. L. <strong>Hb Port Huron (alpha56(E5)lys-to-arg): a new alpha chain variant.</strong> Hemoglobin 15: 381-391, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1802882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1802882</a>] [<a href="https://doi.org/10.3109/03630269108998858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1802882">Zwerdling et al. (1991)</a> investigated the structural abnormality of a putative Hb E detected in an African American family with no apparent Asian ancestry. The tryptic peptide map formed by high performance liquid chromatography showed that the electrophoretic variant was indeed the beta glu26-to-lys mutation of Hb E. In addition, however, the tryptic map showed an abnormal alpha peptide. The second mutation was a substitution of arginine for lysine at residue 56 of the alpha chain. The variant was clinically silent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1802882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0165 MOVED TO <a href="/entry/141850#0023">141850.0023</a></strong>
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<a id="0166" class="mim-anchor"></a>
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<strong>.0166 HEMOGLOBIN PAVIE</strong>
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HBA1, VAL135GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35994191 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35994191;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35994191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35994191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63749809 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749809;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63749809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63749809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017186" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017186" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017186</a>
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<p>See <a href="#394" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., Galacteros, F. <strong>A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha-135(H18)val-to-glu].</strong> Clin. Chim. Acta 188: 39-48, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347082</a>] [<a href="https://doi.org/10.1016/0009-8981(90)90144-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347082">Wajcman et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0167" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0167 HEMOGLOBIN QUESTEMBERT</strong>
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</h4>
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HBA1, SER131PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35974739 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35974739;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35974739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35974739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63751417 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751417;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017187</a>
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</span>
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<span class="mim-text-font">
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<p>See Wajcman et al. (<a href="#394" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., Galacteros, F. <strong>A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha-135(H18)val-to-glu].</strong> Clin. Chim. Acta 188: 39-48, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347082</a>] [<a href="https://doi.org/10.1016/0009-8981(90)90144-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347082">1990</a>, <a href="#402" class="mim-tip-reference" title="Wajcman, H., Kister, J., M'Rad, A., Marden, M. C., Riou, J., Galacteros, F. <strong>Hb Val de Marne [alpha133 (H16) ser-to-arg]: a new hemoglobin variant with moderate increase in oxygen affinity..</strong> Hemoglobin 17: 407-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294200</a>] [<a href="https://doi.org/10.3109/03630269308997495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8294200">1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8294200+2347082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0168" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0168 HEMOGLOBIN THIONVILLE</strong>
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</h4>
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HBA1, NH2 EXTENSION, VAL1GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864802 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864802;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281864802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281864802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017188" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017188" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017188</a>
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</span>
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<span class="mim-text-font">
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<p>See <a href="#381" class="mim-tip-reference" title="Vasseur, C., Guillemin, C., Galacteros, F., Wajcman, H. <strong>Hemoglobin Thionville: an alpha chain variant with substitution of a glutamic residue for valine NA-1 and having an extended N-terminus. (Abstract)</strong> Blood 76 (suppl. 1): 78a, 1990."None>Vasseur et al. (1990)</a>. Substitution of glutamic acid for valine as the first residue in the mature protein is accompanied by retention of the initiator methionine residue. This may be the only known hemoglobin variant with an NH2-extension in the alpha-globin chain. Hb Marseille (<a href="/entry/141900#0171">141900.0171</a>), Hb Doha (<a href="/entry/141900#0069">141900.0069</a>), and Hb South Florida (<a href="/entry/141900#0266">141900.0266</a>) are examples of hemoglobin variants with an NH2-extension due to retention of the initiator methionine in the beta-globin chain. Each is due to mutation in the first or second residue of the mature protein. <a href="#380" class="mim-tip-reference" title="Vasseur, C., Blouquit, Y., Kister, J., Prome, D., Kavanaugh, J. S., Rogers, P. H., Guillemin, C., Arnone, A., Galacteros, F., Poyart, C., Rosa, J., Wajcman, H. <strong>Hemoglobin Thionville: an alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH(2) terminus.</strong> J. Biol. Chem. 267: 12682-12691, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618774</a>]" pmid="1618774">Vasseur et al. (1992)</a> found that elongation of the NH2-terminus of the alpha-chain, due to inhibition of cleavage of the initiator methionine which is then acetylated, modifies the 3-dimensional structure of hemoglobin at a region that is known to have an important role in the allosteric regulation of oxygen binding. Hb Thionville has a lowered affinity for oxygen. In contrast, response to 2,3-diphosphoglycerate is normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1618774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>This variant was numbered based on the first amino acid of the mature protein. In the gene-based system of counting, this variant is VAL2GLY.</p>
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<a id="0169" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0169 HEMOGLOBIN KANAGAWA</strong>
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</span>
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</h4>
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ERYTHROCYTOSIS 7, INCLUDED
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HBA1, LYS40MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864828;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281864828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281864828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41416747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41416747;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41416747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41416747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017189 OR RCV000641239" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017189, RCV000641239" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017189...</a>
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</span>
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<span class="mim-text-font">
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<p>In the course of a high performance liquid chromatography survey of Hb A1c, <a href="#257" class="mim-tip-reference" title="Miyashita, H., Hashimoto, K., Mohri, H., Ohokubo, T., Harano, T., Harano, K., Imai, K. <strong>Hb Kanagawa (alpha-40(C5)lys-to-met): a new alpha chain variant with an increased oxygen affinity.</strong> Hemoglobin 16: 1-10, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634355</a>] [<a href="https://doi.org/10.3109/03630269209005670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634355">Miyashita et al. (1992)</a> detected a new hemoglobin in a 70-year-old Japanese male with cerebral infarction and erythremia (ECYT7; <a href="/entry/617981">617981</a>). Further studies revealed a lys40-to-met mutation. The variant showed increased oxygen affinity, decreased heme-heme interaction, and a lowered 2,3-diphosphoglycerate effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>(Erythremia, a now almost obsolete synonym for polycythemia and erythrocytosis, means increased red blood cell mass.)</p>
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<strong>.0170 HEMOGLOBIN TURRIFF</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34806456 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34806456;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34806456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34806456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017190" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017190" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017190</a>
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<p>In a diabetic woman of Scottish ancestry, <a href="#211" class="mim-tip-reference" title="Langdown, J. V., Davidson, R. J. L., Williamson, D. <strong>A new alpha chain variant, Hb Turriff (alpha-99(G6)lys-to-glu): the interference of abnormal hemoglobins in Hb A(1c) determination.</strong> Hemoglobin 16: 11-17, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634357</a>] [<a href="https://doi.org/10.3109/03630269209005671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634357">Langdown et al. (1992)</a> detected a new hemoglobin variant in the course of determining Hb A1c by high performance liquid chromatography. The abnormal hemoglobin chromatographed with the Hb A1c fraction. Family studies showed that a lys99-to-glu mutation, which was not associated with any hematologic disturbance, had occurred de novo. An AAG-to-GAG mutation was presumed and was not assigned to either the alpha-2- or alpha-1-globin chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The Hb A(1c) level in the patient of <a href="#211" class="mim-tip-reference" title="Langdown, J. V., Davidson, R. J. L., Williamson, D. <strong>A new alpha chain variant, Hb Turriff (alpha-99(G6)lys-to-glu): the interference of abnormal hemoglobins in Hb A(1c) determination.</strong> Hemoglobin 16: 11-17, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634357</a>] [<a href="https://doi.org/10.3109/03630269209005671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634357">Langdown et al. (1992)</a> was found to be very high. In a Japanese individual, <a href="#130" class="mim-tip-reference" title="Harano, T., Harano, K., Hong, Y.-F., Than, A. M., Suetsugu, Y., Ohba, K. <strong>The mutation of Hb Turriff (alpha-99(G6)lys-to-glu (AAG-GAG)) is carried by the alpha-1-globin gene in a Japanese (Hb Turriff-I).</strong> Hemoglobin 27: 123-127, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779275</a>] [<a href="https://doi.org/10.1081/hem-120021547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12779275">Harano et al. (2003)</a> likewise found an unexpectedly high Hb A(1c) level as measured by an automatic Hb A(1c) analyzer and found by DNA sequencing a change in the first nucleotide of codon 99 (AAG-GAG) of the Hb A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12779275+1634357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0171 HEMOGLOBIN ZAIRE</strong>
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HBA1, 15-BP TANDEM REPEAT
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017191" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017191" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017191</a>
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<p>Hemoglobin Zaire was found in a 36-year-old patient from Zaire during a systematic hemoglobin study. <a href="#395" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Vasseur, C., Le Querrec, A., Laniece, M., Melevendi, C., Rasore, A., Galacteros, F. <strong>Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.</strong> Hum. Genet. 89: 676-680, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511986</a>] [<a href="https://doi.org/10.1007/BF00221961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1511986">Wajcman et al. (1992)</a> demonstrated that the abnormality was the insertion of 5 amino acids--his, leu, pro, ala, glu--between glu116 and phe117 of the alpha-globin chain. This sequence represented a tandem repeat of the 5 amino acid residues from 112 through 116, located at the end of the GH corner of the molecule. Hemoglobin Grady (<a href="#0045">141800.0045</a>) involves the insertion of 3 amino acids as repeats of residues 116, 117 and 118. Unequal crossing over between alleles rather than between the separate alpha-1 and alpha-2 loci was thought to be the mechanism in that case and possibly in the case of Hb Zaire as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1511986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0172 HEMOGLOBIN LUTON</strong>
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HBA1, HIS89LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33944813 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33944813;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33944813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33944813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017192" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017192" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017192</a>
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<p>In a newborn infant and the father, a 35-year-old Pakistani man, <a href="#414" class="mim-tip-reference" title="Williamson, D., Langdown, J. V., Myles, T., Mason, C., Henthorn, J. S., Davies, S. C. <strong>Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb Luton, alpha-89 his-to-leu) and alpha-thalassaemia trait.</strong> Brit. J. Haemat. 82: 621-622, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1486044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1486044</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1992.tb06478.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1486044">Williamson et al. (1992)</a> described a new hemoglobin with high oxygen affinity. The high affinity hemoglobin mutation was identified by HPLC peptide mapping and amino acid sequencing; leucine was substituted for histidine at amino acid position 89. The mutation occurred at the end of the F helix (FG1), a part of the hemoglobin structure critical in determining oxygen affinity since it is directly linked to the heme iron through the proximal histidine residue F8. This was the first example of a mutation at this position of the alpha chain of hemoglobin, although there were 2 high affinity mutants that involved the structurally equivalent amino acid (beta94 asp) of the beta chain: Hb Barcelona (beta94 his; <a href="/entry/141900#0016">141900.0016</a>) and Hb Bunbury (beta94 asn; <a href="/entry/141900#0035">141900.0035</a>). The new hemoglobin was called Hb Luton for the name of the hospital where the proband was originally treated. The proband was a neonate in whom 2 abnormal hemoglobin bands were found, the 2 bands being the mutant forms of fetal and adult hemoglobins containing the anomalous alpha globin. The father had microcytosis as well as mild polycythemia and was shown to have an accompanying alpha-thalassemia trait due to deletion of a single alpha-globin gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1486044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0173 HEMOGLOBIN OZIERI</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs3180281 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3180281;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs3180281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs3180281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017193" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017193" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017193</a>
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<p>During a screening for hemoglobinopathies in Sardinia, <a href="#98" class="mim-tip-reference" title="Ferranti, P., Parlapiano, A., Malorni, A., Pucci, P., Marino, G., Cossu, G., Manca, L., Masala, B. <strong>Hemoglobin Ozieri: a new alpha-chain variant (alpha-71(E20)ala-to-val): characterization using FAB- and electrospray-mass spectrometric techniques.</strong> Biochim. Biophys. Acta 1162: 203-208, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8448185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8448185</a>] [<a href="https://doi.org/10.1016/0167-4838(93)90148-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8448185">Ferranti et al. (1993)</a> found a new 'silent' hemoglobin variant in 5 apparently unrelated newborn babies. The variant was detected by means of isoelectric focusing (IEF), and further study revealed a valine for alanine substitution at position 71 of the alpha-globin chain. The substitution indicated that a C-to-T transition had occurred in the GCG codon for alanine which contains one of the 35 unmethylated CpG dinucleotides of the HBA1 gene. This observation brought to 13 the number of variants due to mutation in the CpGs of the HBA1 gene and raised the possibility that unmethylated CpGs, like methylated ones, may be hotspots for mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8448185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0174 HEMOGLOBIN ADANA</strong>
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HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928878 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928878;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017194 OR RCV000022600 OR RCV000756221 OR RCV001831580 OR RCV005016276" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017194, RCV000022600, RCV000756221, RCV001831580, RCV005016276" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017194...</a>
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<p>In 3 Turkish children with severe thalassemia, <a href="#76" class="mim-tip-reference" title="Curuk, M. A., Altay, C., Fei, Y.-J., Kutlar, F., Baysal, E., Gu, L.-H., Huisman, T. H. J. <strong>Severe Hb H disease due to a combination of the -(alpha)20 kb deletion and Hb Adana, an unstable alpha-1 variant with gly-to-asp at alpha-59 (GGC-to-GAC). (Abstract)</strong> Blood 80: 81a, 1992."None>Curuk et al. (1992)</a> found a GGC-to-GAC mutation in codon 59 of the HBA1 gene resulting in a replacement of glycine by aspartic acid. The combination of an alpha-thal-1 deletion with the unstable Hb Adana resulted in a severe type of Hb H disease (<a href="/entry/613978">613978</a>).</p>
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<a id="0175" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0175 HEMOGLOBIN AL-AIN ABU DHABI</strong>
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</span>
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</h4>
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HBA1, GLY18ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35993097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35993097;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35993097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35993097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750679 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750679;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017195" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017195" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017195</a>
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<p>During a routine program of hemoglobin screening performed in the United Arab Emirates, <a href="#1" class="mim-tip-reference" title="Abbes, S., M'Rad, A., Fitzgerald, P. A., Dormer, P., Blouquit, Y., Kister, J., Galacteros, F., Wajcman, H. <strong>Hb Al-Ain Abu Dhabi [alpha-18 (A16) gly-to-asp]: a new hemoglobin variant discovered in an Emiratee family.</strong> Hemoglobin 16: 355-362, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1428941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1428941</a>] [<a href="https://doi.org/10.3109/03630269209005687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1428941">Abbes et al. (1992)</a> found an electrophoretically fast-moving variant in a 9-month-old girl and in several members of her family. Amino acid sequencing demonstrated that the new variant had a gly18-to-asp substitution. Its functional properties were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1428941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0176" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0176 HEMOGLOBIN POITIERS</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS45ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33931984 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33931984;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33931984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33931984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017196" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017196" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017196</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Hb Poitiers was discovered by <a href="#24" class="mim-tip-reference" title="Bardakdjian, J., Kister, J., Wajcman, H., Boulard, P., Bohn, B., Blouquit, Y., Galacteros, F. <strong>Hb Poitiers [alpha45 (CE3) his-to-asp]: a new hemoglobin variant with a two-fold increase in oxygen affinity.</strong> Hemoglobin 18: 1-9, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195004</a>] [<a href="https://doi.org/10.3109/03630269409014140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8195004">Bardakdjian et al. (1994)</a> in a 9-year-old French Caucasian boy who suffered from chronic anemia. The molecular defect consists of a missense mutation at codon 45 of the HBA1 gene, changing histidine to aspartate. Hb Poitiers displays a 2-fold increased oxygen affinity, a slightly decreased heme-heme interaction, and a slightly faster autooxidation rate. In adult hemoglobin (Hb A), the histidine residue at position 45 of the alpha-globin gene is the only polar contact between the heme group and globin. This position, however, seems to allow for moderate variation without dramatic consequences on the function of hemoglobin. His45 is replaced by glutamine in Hb Bari (<a href="#0009">141800.0009</a>) and by arginine in Hb Fort de France (<a href="#0034">141800.0034</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<br />
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</div>
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<div>
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<div>
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<a id="0177" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0177 MOVED TO <a href="/entry/141850#0062">141850.0062</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<a id="0178" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0178 HEMOGLOBIN CAEN</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, VAL132GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35166834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35166834;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35166834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35166834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750708 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750708;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017197" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017197" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017197</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#402" class="mim-tip-reference" title="Wajcman, H., Kister, J., M'Rad, A., Marden, M. C., Riou, J., Galacteros, F. <strong>Hb Val de Marne [alpha133 (H16) ser-to-arg]: a new hemoglobin variant with moderate increase in oxygen affinity..</strong> Hemoglobin 17: 407-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294200</a>] [<a href="https://doi.org/10.3109/03630269308997495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8294200">Wajcman et al. (1993)</a> discovered the Hb Caen variant in a 25-year-old French Caucasian woman suffering from a mild chronic hemolytic anemia. Trypsin degradation of the isolated hemoglobin alpha chain followed by high performance liquid chromatography indicated that the valine residue at position 132 was replaced by glycine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8294200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0179" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0179 HEMOGLOBIN YUDA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA130ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41528545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41528545;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41528545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41528545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs63750613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750613;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs63750613?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017198" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017198" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017198</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Hb Yuda was discovered in a 65-year-old Japanese female with noninsulin-dependent diabetes mellitus (<a href="#105" class="mim-tip-reference" title="Fujisawa, K., Hattori, Y., Ohba, Y., Ando, S. <strong>Hb Yuda or alpha130 (H13) ala-to-asp; a new alpha chain variant with low oxygen affinity.</strong> Hemoglobin 16: 435-439, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1428950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1428950</a>] [<a href="https://doi.org/10.3109/03630269209005698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1428950">Fujisawa et al., 1992</a>). Gas phase Edman degradation indicated that the abnormal hemoglobin alpha chain has a substitution of aspartic acid for alanine at residue 130. Hb Yuda has a very low oxygen affinity and slightly decreased cooperative subunit interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1428950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0180" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0180 HEMOGLOBIN CAPA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP94GLY
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928879;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017199" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017199" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017199</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Hb Capa was discovered in a 28-year-old female in Turkey who was being treated for chronic iron deficiency anemia. The hemoglobin showed abnormal electrophoretic mobility and was mildly unstable in a heat denaturation test. The molecular change was a GAC-to-GGC transition in codon 94, resulting in substitution of glycine for aspartic acid. Three other substitutions of asp-94 are known: Hb Setif (<a href="#0130">141800.0130</a>), Hb Titusville (<a href="#0148">141800.0148</a>), and Hb Sunshine Seth (<a href="#0143">141800.0143</a>). All 4 variants exhibit mild instability.</p>
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<a id="0181" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0181 HEMOGLOBIN MONTEFIORE</strong>
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HBA1, ASP126TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33933481 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33933481;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33933481?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33933481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33933481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750950 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750950;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017200" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017200" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017200</a>
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</span>
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<p><a href="#395" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Vasseur, C., Le Querrec, A., Laniece, M., Melevendi, C., Rasore, A., Galacteros, F. <strong>Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.</strong> Hum. Genet. 89: 676-680, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511986</a>] [<a href="https://doi.org/10.1007/BF00221961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1511986">Wajcman et al. (1992)</a> demonstrated an asp126-to-tyr change in the HBA1 gene in an individual of Puerto Rican descent. At physiologic pH (7.4), the oxygen binding of the patient's red blood cells revealed a 40% reduction. Hb Montefiore appears to have lower cooperativity than other characterized alpha-126 mutants: aspartic acid is replaced by asparagine in Hb Tarrant (<a href="#0146">141800.0146</a>), by histidine in Hb Sassari (<a href="#0126">141800.0126</a>), and by valine in Hb Fukutomi (<a href="#0163">141800.0163</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1511986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0182" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0182 HEMOGLOBIN ROUEN</strong>
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</h4>
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<span class="mim-text-font">
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HEMOGLOBIN ETHIOPIA<br />
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ERYTHROCYTOSIS 7, INCLUDED
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<span class="mim-text-font">
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HBA1, TYR140HIS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35723200 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35723200;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35723200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35723200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs55870409 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs55870409;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs55870409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs55870409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017201 OR RCV000017202 OR RCV000641245" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017201, RCV000017202, RCV000641245" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017201...</a>
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</span>
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<span class="mim-text-font">
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<p>A tyr140-to-his mutation in the HBA1 gene was discovered and characterized in a French patient with polycythemia (ECYT7; <a href="/entry/617981">617981</a>) by <a href="#404" class="mim-tip-reference" title="Wajcman, H., Kister, J., Marden, M., Lahary, A., Monconduit, M., Galacteros, F. <strong>Hemoglobin Rouen (alpha140(HC2)tyr-to-his): alteration of the alpha chain C-terminal region and moderate increase in oxygen affinity.</strong> Biochim. Biophys. Acta 1180: 53-57, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390944</a>] [<a href="https://doi.org/10.1016/0925-4439(92)90026-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1390944">Wajcman et al. (1992)</a> and in a newborn baby of Ethiopian descent by <a href="#411" class="mim-tip-reference" title="Webber, B. B., Wilson, J. B., Gu, L.-H., Huisman, T. H. J. <strong>Hb Ethiopia or alpha140(HC2)tyr-to-his.</strong> Hemoglobin 16: 441-443, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1428951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1428951</a>] [<a href="https://doi.org/10.3109/03630269209005699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1428951">Webber et al. (1992)</a>. This mutation provides an example of an alteration of the C terminus of the alpha chain, a region involved in the mechanisms of allosteric regulation. Hb Rouen has increased oxygen affinity and decreased cooperativity. A complementary tyr145-to-his mutation (Hb Bethesda; <a href="/entry/141900#0022">141900.0022</a>) in the hemoglobin beta chain has more dramatic effects, suggesting that the alpha and beta chains play unequal roles in the overall function of hemoglobin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1390944+1428951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0183" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0183 HEMOGLOBIN MELUSINE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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HBA1, PRO114SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34472107 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34472107;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34472107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34472107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017203" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017203" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017203</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Hb Melusine was found in an Algerian patient during a systematic screening for hemoglobinopathies in Luxembourg. Using isoelectric focusing and reverse phase high performance liquid chromatography (RP-HPLC), <a href="#402" class="mim-tip-reference" title="Wajcman, H., Kister, J., M'Rad, A., Marden, M. C., Riou, J., Galacteros, F. <strong>Hb Val de Marne [alpha133 (H16) ser-to-arg]: a new hemoglobin variant with moderate increase in oxygen affinity..</strong> Hemoglobin 17: 407-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294200</a>] [<a href="https://doi.org/10.3109/03630269308997495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8294200">Wajcman et al. (1993)</a> determined that the molecular mutation at amino acid position 114 of the HBA1 gene changed the residue from proline to serine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8294200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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<div>
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<a id="0184" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0184 HEMOGLOBIN TAYBE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, THR38DEL OR THR39DEL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63751150 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751150;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63751150" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63751150" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017204 OR RCV004589515 OR RCV005007861" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017204, RCV004589515, RCV005007861" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017204...</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#118" class="mim-tip-reference" title="Girodon, E., M'Rad, A., Martin, J., Goossens, M., Galacteros, F., Rosa, J., Gisselbrecht, C., Boiron, M., Cohen, I. J., Jaber, L., Tamari, H., Goshen, J., Zaizov, R., Wajcman, H. <strong>Hb Taybe (alpha 38 or 39 THR deleted): a new unstable alpha chain hemoglobin variant. (Abstract)</strong> Blood 80 (suppl. 1): 388a, 1992."None>Girodon et al. (1992)</a> reported the characterization of Hb Taybe, a hemoglobin variant discovered in a young Arabic woman suffering since birth from a severe and highly regenerative hemolytic anemia. DNA amplification and sequencing of the HBA1 gene indicated a 3-bp deletion (encoding threonine) at amino acid position 38 or 39. This variant increases the hydrophobicity of the amino acid chain, and it is quite unstable.</p>
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</span>
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</div>
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<div>
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<a id="0185" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0185 HEMOGLOBIN CEMENELUM</strong>
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</span>
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</h4>
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HBA1, ARG92TRP
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34868036 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34868036;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34868036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34868036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017205" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017205" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017205</a>
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</span>
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<p><a href="#403" class="mim-tip-reference" title="Wajcman, H., Kister, J., M'Rad, A., Soummer, A. M., Galacteros, F. <strong>Hb Cemenelum [alpha92 (FG4) arg-to-trp]: a hemoglobin variant of the alpha-1/beta-2 interface that displays a moderate increase in oxygen affinity.</strong> Ann. Hemat. 68: 73-76, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8148419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8148419</a>] [<a href="https://doi.org/10.1007/BF01715134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8148419">Wajcman et al. (1994)</a> described a missense mutation involving the same codon as that involved in Hb Chesapeake (<a href="#0018">141800.0018</a>), the first high oxygen affinity hemoglobin variant to be described in association with polycythemia (<a href="#61" class="mim-tip-reference" title="Charache, S., Weatherall, D. J., Clegg, J. B. <strong>Polycythemia associated with a hemoglobinopathy.</strong> J. Clin. Invest. 45: 813-822, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5913291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5913291</a>] [<a href="https://doi.org/10.1172/JCI105397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5913291">Charache et al., 1966</a>). Hb Chesapeake has an arg92-to-leu substitution; Hb Cemenelum has an arg92-to-trp substitution. Hb J (Cape Town) (<a href="#0063">141800.0063</a>) has a substitution (arg92-to-gln) in the same codon. Hb Cemenelum was discovered in a French diabetic patient with no hematologic abnormalities. The purified abnormal hemoglobin, like Hb J (Cape Town), displayed only a 1.5- to 2-fold increased oxygen affinity. The findings demonstrate that the degree to which the functional properties are altered by changes in key residues at the alpha-beta interface depends upon the specific residue occupying this position. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8148419+5913291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0186" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0186 HEMOGLOBIN RAMONA</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, TYR24CYS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928880;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017206" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017206" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017206</a>
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</span>
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<span class="mim-text-font">
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<p>Hb Ramona was accidentally detected by isoelectrofocusing in a pregnant woman of part Spanish descent; its mobility was slightly faster than that of Hb A. A TAT-to-TGT change was found at codon 24, corresponding to a replacement of tyrosine by cysteine.</p>
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<a id="0187" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0187 HEMOGLOBIN TATRAS</strong>
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</h4>
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</div>
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HBA1, LYS7ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34410516 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34410516;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34410516?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34410516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34410516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017207 OR RCV001811184" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017207, RCV001811184" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017207...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 72-year-old woman born in Czechoslovakia, <a href="#396" class="mim-tip-reference" title="Wajcman, H., Bost, M., Blouquit, Y., Prehu, C., Riou, J., Galacteros, F. <strong>Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras (alpha7(A5)lys-to-asn) and Hb Lisbon (alpha23(B4)glu-to-asp).</strong> Hemoglobin 18: 427-432, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713746</a>] [<a href="https://doi.org/10.3109/03630269409045774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7713746">Wajcman et al. (1994)</a> found a lys7-to-asn mutation when investigating the basis for an abnormal level of Hb A1c. No abnormal hematologic features were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7713746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0188" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0188 HEMOGLOBIN LISBON</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, GLU23ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281860684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860684;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281860684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs281860684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017208" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017208" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017208</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 31-year-old man of Portuguese origin who had suffered from diabetes mellitus since the age of 15 years, <a href="#396" class="mim-tip-reference" title="Wajcman, H., Bost, M., Blouquit, Y., Prehu, C., Riou, J., Galacteros, F. <strong>Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras (alpha7(A5)lys-to-asn) and Hb Lisbon (alpha23(B4)glu-to-asp).</strong> Hemoglobin 18: 427-432, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713746</a>] [<a href="https://doi.org/10.3109/03630269409045774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7713746">Wajcman et al. (1994)</a> found an abnormal hemoglobin during measurement of Hb A1c by an isoelectrofocusing study. There were no abnormal hematologic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7713746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0189" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0189 HEMOGLOBIN ROANNE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASP94GLU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34814612 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34814612;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34814612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34814612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017209" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017209" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017209</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#197" class="mim-tip-reference" title="Kister, J., Kiger, L., Francina, A., Hanny, P., Szymanowicz, A., Blouquit, Y., Prome, D., Galacteros, F., Delaunay, J., Wajcman, H. <strong>Hemoglobin Roanne (alpha94(G1)asp-to-glu): a variant of the alpha-1 beta-2 interface with an unexpected high oxygen affinity.</strong> Biochim. Biophys. Acta 1246: 34-38, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811728</a>] [<a href="https://doi.org/10.1016/0167-4838(94)00190-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7811728">Kister et al. (1995)</a> described a new hemoglobin variant in a 73-year-old woman from Roanne in central France. She suffered from mild chronic hemolytic anemia. An asp94-to-glu substitution was found in the alpha-1 chain. Aspartate-94 is involved in several contacts, both in the deoxy- and oxy-structures of the hemoglobin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7811728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0190" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0190 HEMOGLOBIN MALHACEN</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA123SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28928881 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928881;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28928881?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017210" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017210" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017210</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#193" class="mim-tip-reference" title="Kazanetz, E. G., Leonova, J. Y., Wilson, J. B., McMillan, S. K., Walbrecht, M., de Pablos Gallego, J. M., Huisman, T. H. J. <strong>Hb Anamosa or alpha(2)-111(G18)ala--val-beta2 (alpha2 mutation) and Hb Mulhacen or alpha(2)-123(H6)ala--ser-beta2 (alpha1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.</strong> Hemoglobin 19: 1-6, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7615398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7615398</a>] [<a href="https://doi.org/10.3109/03630269509069724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7615398">Kazanetz et al. (1995)</a> observed this variant hemoglobin in an adult male in Granada, Spain, who was evaluated because of severe iron deficiency anemia. Sequencing of the HBA1 gene showed 2 nucleotide changes. One was a simple polymorphism, as both GCG and GCT code for alanine (at codon 120). The second mutation was a GCC-to-TCC change at codon 123 resulting in replacement of alanine by serine. The replacement caused slight differences in the IEF and reversed-phase HPLC experiments, but the stability of the hemoglobin was normal. Family studies were not performed; thus, whether the 2 mutations were in coupling or repulsion was not known. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7615398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0191" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0191 HEMOGLOBIN TUNIS-BIZERTE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LEU129PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35993655 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35993655;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35993655?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35993655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35993655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017211 OR RCV000756223 OR RCV001276182 OR RCV005016277" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017211, RCV000756223, RCV001276182, RCV005016277" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017211...</a>
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<p>In 3 members of a Tunisian family, <a href="#78" class="mim-tip-reference" title="Darbellay, R., Mach-Pascual, S., Rose, K., Graf, J., Beris, Ph. <strong>Haemoglobin Tunis-Bizerte: a new alpha-1 globin 129 leu-to-pro unstable variant with thalassaemic phenotype.</strong> Brit. J. Haemat. 90: 71-76, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7786798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7786798</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb03382.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7786798">Darbellay et al. (1995)</a> identified a leu129-to-pro substitution in the HBA1 gene by sequencing the entirety of the HBA2 and HBA1 genes. In the heterozygous state, the variant was manifested by microcytosis, whereas the homozygous state showed moderate anemia with marked microcytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7786798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0192" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0192 MOVED TO <a href="/entry/141850#0068">141850.0068</a></strong>
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<a id="0193" class="mim-anchor"></a>
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<strong>.0193 HEMOGLOBIN BOIS GUILLAUME</strong>
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HBA1, ALA65VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34733452 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34733452;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34733452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34733452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017212" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017212" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017212</a>
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<p>By tiny abnormalities observed during isoelectrofocusing, <a href="#393" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A. M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., Galacteros, F. <strong>Three new neutral alpha chain variants: Hb Bois Guillaume (alpha-65(E14)ala-to-val), Hb Mantes-La-Jolie (alpha-79(EF8)ala-to-thr), and Hb Mosella (alpha-111(G18)ala-to-thr).</strong> Hemoglobin 19: 281-286, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537232</a>] [<a href="https://doi.org/10.3109/03630269509005815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8537232">Wajcman et al. (1995)</a> identified this electrophoretically silent variant in 3 members of a Caucasian-French family. This hemoglobin was the first alpha-chain variant that involved position 64. In the beta chain, the corresponding position, E14, is also occupied by an alanine residue; in Hb Seattle (<a href="/entry/141900#0256">141900.0256</a>), it is replaced by aspartic acid (ala70-to-asp). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0194" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0194 HEMOGLOBIN MANTES-LA-JOLIE</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA79THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34586189 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34586189;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34586189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34586189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017213" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017213" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017213</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p><a href="#393" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A. M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., Galacteros, F. <strong>Three new neutral alpha chain variants: Hb Bois Guillaume (alpha-65(E14)ala-to-val), Hb Mantes-La-Jolie (alpha-79(EF8)ala-to-thr), and Hb Mosella (alpha-111(G18)ala-to-thr).</strong> Hemoglobin 19: 281-286, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537232</a>] [<a href="https://doi.org/10.3109/03630269509005815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8537232">Wajcman et al. (1995)</a> found this variant hemoglobin during a systematic study of the iron status in a 6-month-old baby and his mother who originated from Chad in North Central Africa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0195" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0195 HEMOGLOBIN MOSELLA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ALA111THR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34863047 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34863047;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34863047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34863047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017214" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017214" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017214</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#393" class="mim-tip-reference" title="Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A. M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., Galacteros, F. <strong>Three new neutral alpha chain variants: Hb Bois Guillaume (alpha-65(E14)ala-to-val), Hb Mantes-La-Jolie (alpha-79(EF8)ala-to-thr), and Hb Mosella (alpha-111(G18)ala-to-thr).</strong> Hemoglobin 19: 281-286, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537232</a>] [<a href="https://doi.org/10.3109/03630269509005815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8537232">Wajcman et al. (1995)</a> found this variant in a 35-year-old pregnant woman of Caucasian origin who lived in Luxembourg. The abnormal Hb was also found in one of her daughters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<div>
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<a id="0196" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0196 HEMOGLOBIN FUCHU-I</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS72TYR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs36104787 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36104787;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36104787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36104787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017215" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017215" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017215</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>At the Fuchu Municipal Medical Center in Tokyo, <a href="#141" class="mim-tip-reference" title="Harano, T., Harano, K., Uehara, S., Matsushita, K. <strong>Two new alpha chain variants: Hb Fuchu-I (alpha-72(EF1)his-to-tyr) and Hb Fuchu-II (alpha-97(G4)asn-to-his).</strong> Hemoglobin 19: 389-395, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8718697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8718697</a>] [<a href="https://doi.org/10.3109/03630269509005830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8718697">Harano et al. (1995)</a> identified 2 Hb variants in the course of assaying glycated hemoglobin, Hb A(1c), of the peripheral blood by cation exchange HPLC. Structural analyses demonstrated that 1 patient had a his72-to-tyr substitution and the other an asn97-to-his substitution (<a href="#0197">141800.0197</a>) of the alpha-globin chain. These were named Hb Fuchu-I and Hb Fuchu-II, respectively. Both were healthy adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8718697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0197" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0197 HEMOGLOBIN FUCHU-II</strong>
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</span>
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</h4>
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</div>
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HBA1, ASN97HIS
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41322954 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41322954;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41322954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41322954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017216" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017216" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017216</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>See <a href="#0196">141800.0196</a>.</p>
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</span>
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</div>
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<div>
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<strong>.0198 HEMOGLOBIN GOUDA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928882 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928882;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017217" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017217" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017217</a>
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<p>In a 54-year-old Dutch woman under treatment for diabetes mellitus, <a href="#117" class="mim-tip-reference" title="Giordano, P. C., Harteveld, C. L., Kok, P. J. M. J., Geenen, A., Batelaan, D., Amons, R., Bernini, L. F. <strong>Hb Gouda (alpha72(EF1)his-to-gln), a new silent alpha-chain variant.</strong> Hemoglobin 20: 21-29, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745429</a>] [<a href="https://doi.org/10.3109/03630269609027907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8745429">Giordano et al. (1996)</a> incidentally found a silent alpha-chain variant on testing for glycated hemoglobin. A CAC-to-CAA transversion was predicted to result in substitution of glutamine for histidine at residue 72 in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8745429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0199 HEMOGLOBIN J (BISKRA)</strong>
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HBA1, 24-BP DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750122 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750122;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs63750122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs63750122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017218" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017218" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017218</a>
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<p><a href="#397" class="mim-tip-reference" title="Wajcman, H., Dahmane, M., Prehu, C., Costes, B., Prome, D., Arous, N., Bardakdjian-Michau, J., Riou, J., Ayache, K. C., Godart, C., Galacteros, F. <strong>Haemoglobin J-Biskra: a new mildly unstable alpha-1 gene variant with a deletion of eight residues (alpha-50-57, alpha-51-58 or alpha-52-59) including the distal histidine.</strong> Brit. J. Haemat. 100: 401-406, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488635</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00566.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488635">Wajcman et al. (1998)</a> described Hb J-Biskra, a variant hemoglobin consisting of deletion of 24 nucleotides from the HBA1 gene and 8 amino acid residues from the alpha-globin chain: residues 50-57, 51-58, or 52-59. This variant was mildly unstable in vitro only, and there was no hematologic or biochemical evidence of hemolysis in affected family members. <a href="#397" class="mim-tip-reference" title="Wajcman, H., Dahmane, M., Prehu, C., Costes, B., Prome, D., Arous, N., Bardakdjian-Michau, J., Riou, J., Ayache, K. C., Godart, C., Galacteros, F. <strong>Haemoglobin J-Biskra: a new mildly unstable alpha-1 gene variant with a deletion of eight residues (alpha-50-57, alpha-51-58 or alpha-52-59) including the distal histidine.</strong> Brit. J. Haemat. 100: 401-406, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488635</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00566.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488635">Wajcman et al. (1998)</a> stated that this was the largest deletion reported to that time in a hemoglobin molecule that is expressed at an almost normal level in the red blood cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0200 HEMOGLOBIN GODAVARI</strong>
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HBA1, PRO95THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33984621 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33984621;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33984621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33984621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017219" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017219" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017219</a>
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<p>Hb Godavari is the fourth example of a substitution involving neutral residues at position 95 of the alpha-1 chain. In all of these variants, the electrophoretic pattern suggested that the structural modification unmasks a charged residue in the alpha-1/beta-2 contact area. The other examples are Hb Denmark Hill, pro95 to ala (<a href="#0027">141800.0027</a>); Hb G (Georgia), and pro95 to leu (<a href="#0038">141800.0038</a>). Hb Godavari shared the same electrophoretic properties as these variants, but displayed minimal alterations of the oxygen-binding properties. <a href="#405" class="mim-tip-reference" title="Wajcman, H., Kister, J., Riou, J., Galacteros, F., Girot, R., Maier-Redelsperger, M., Nayudu, N. V. S., Giordano, P. C. <strong>Hb Godavari (alpha-95(G2)pro to thr): a neutral amino acid substitution in the alpha-1/beta-2 interface that modifies the electrophoretic mobility of hemoglobin.</strong> Hemoglobin 22: 11-22, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9494044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9494044</a>] [<a href="https://doi.org/10.3109/03630269809071513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9494044">Wajcman et al. (1998)</a> identified Hb Godavari in 2 families of different ethnic origin. The first case, found in the Netherlands, involved an Indian patient. The second case was identified a few months later in an African family from Mali, living in France. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9494044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0201" class="mim-anchor"></a>
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<strong>.0201 HEMOGLOBIN OITA</strong>
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HBA1, HIS45PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928883 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928883;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017220" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017220" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017220</a>
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<p><a href="#125" class="mim-tip-reference" title="Hamaguchi, K., Harano, K., Harano, T., Sakata, T. <strong>Hb Oita (alpha-45(CE3)his-to-pro): a new silent hemoglobin variant.</strong> Hemoglobin 22: 347-354, 1998. Note: Erratum: Hemoglobin 22: 539-540, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9730365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9730365</a>] [<a href="https://doi.org/10.3109/03630269809071529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9730365">Hamaguchi et al. (1998)</a> reported a neutral (silent) hemoglobin variant, designated Hb Oita, in which a change from CAC to CCC caused a his45-to-pro substitution. In Hb Bari (<a href="#0009">141800.0009</a>), his45 is replaced by gln. In Hb Fort de France (<a href="#0034">141800.0034</a>), his45 is replaced by arg. In Hb Portiers (<a href="#0176">141800.0176</a>), his45 is replaced by asp. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9730365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0202" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0202 HEMOGLOBIN AGHIA SOPHIA</strong>
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HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
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HBA1, VAL62DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35672478 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35672478;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35672478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35672478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017221 OR RCV000022601 OR RCV001078389" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017221, RCV000022601, RCV001078389" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017221...</a>
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<p>In a Greek child with Hb H disease (<a href="/entry/613978">613978</a>), <a href="#375" class="mim-tip-reference" title="Traeger-Synodinos, J., Harteveld, C. L., Kanavakis, E., Giordano, P. C., Kattamis, C., Bernini, L. F. <strong>Hb Aghia Sophia (alpha-62(E11)val-to-0 (alpha-1)), an 'in-frame' deletion causing alpha-thalassemia.</strong> Hemoglobin 23: 317-324, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569720</a>] [<a href="https://doi.org/10.3109/03630269909090747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10569720">Traeger-Synodinos et al. (1999)</a> found deletion of codon 62 of the alpha-1 gene, leading to alpha-plus-thalassemia. Codon 62 encodes a valine residue at the E11 alpha helix, which is located in the interior of the heme pocket. Substitutions of this valine with other amino acid residues in the alpha as well as beta polypeptide chains lead, in the heterozygous carrier, either to Hb M disease or to congenital nonspherocytic hemolytic anemia. <a href="#375" class="mim-tip-reference" title="Traeger-Synodinos, J., Harteveld, C. L., Kanavakis, E., Giordano, P. C., Kattamis, C., Bernini, L. F. <strong>Hb Aghia Sophia (alpha-62(E11)val-to-0 (alpha-1)), an 'in-frame' deletion causing alpha-thalassemia.</strong> Hemoglobin 23: 317-324, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569720</a>] [<a href="https://doi.org/10.3109/03630269909090747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10569720">Traeger-Synodinos et al. (1999)</a> assumed that deletion of val at position 62 disrupted the conformation of the alpha chain to such an extent that the mutated subunit was rapidly removed by proteolysis. The final result was an alpha-thalassemia phenotype rather than an unstable hemoglobin syndrome. This conclusion was supported by the apparent absence of an abnormal alpha chain in the peripheral blood of the patient. Hb Evans (<a href="/entry/141850#0006">141850.0006</a>) is a val62-to-met mutation of the HBA2 gene and was found in a patient with mild hemolytic anemia. Four amino acid substitutions at position 67(E11)val of the beta chain lead to instability of the Hb tetramer and an anemia of variable degrees in the heterozygotes. One of these substitutions, val67 to glu (<a href="/entry/141900#0163">141900.0163</a>), results in the stable Hb M-Milwaukee-I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0203" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0203 HEMOGLOBIN CHAROLLES</strong>
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</h4>
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HBA1, HIS103TYR
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928884;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017222 OR RCV003387725" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017222, RCV003387725" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017222...</a>
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<span class="mim-text-font">
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<p><a href="#208" class="mim-tip-reference" title="Lacan, P., Francina, A., Souillet, G., Aubry, M., Couprie, N., Dementhon, L., Becchi, M. <strong>Two new alpha chain variants: Hb Boghe (alpha-58(E7)his-to-gln, alpha-2), a variant on the distal histidine, and Hb Charolles (alpha-103(G10)his-to-tyr, alpha-1).</strong> Hemoglobin 23: 345-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569723</a>] [<a href="https://doi.org/10.3109/03630269909090750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10569723">Lacan et al. (1999)</a> detected Hb Charolles in a 46-year-old patient who presented with microcytosis and hypochromia. It was easily detected by isoelectrofocusing and high performance liquid chromatography. It accounted for 11% of the total hemoglobin. The amino acid change resulted from a CAC-to-TAC change in codon 103. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0204" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0204 HEMOGLOBIN ROUBAIX</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, VAL55LEU
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34068598 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34068598;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34068598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34068598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017223" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017223" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017223</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a French family from the north of France, <a href="#304" class="mim-tip-reference" title="Prehu, C., Bost, M., Barro, C., Prome, D., Riou, J., Godart, C., Kister, J., Galacteros, F., Wajcman, H. <strong>Hb Roubaix (alpha-55(E4)val-to-leu): a new neutral hemoglobin variant involving the alpha-1 gene.</strong> Hemoglobin 23: 361-365, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569725</a>] [<a href="https://doi.org/10.3109/03630269909090752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10569725">Prehu et al. (1999)</a> found a new HBA1 variant in 5 members. The variant was initially detected during measurement of glycated hemoglobin in a woman originating from Roubaix. Codon 55 in exon 2 was found to have a heterozygous change from GTT (val) to CTT (leu). This was a neutral variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0205" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0205 HEMOGLOBIN DOUALA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, SER3PHE
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35850071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35850071;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35850071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35850071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017224" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017224" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017224</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a woman from Cameroon, <a href="#305" class="mim-tip-reference" title="Prehu, C., Hanichi, A., Yapo, A. P., Claparols, C., Prome, D., Riou, J., Wajcman, H. <strong>Hb Douala [alpha-3(A1)ser-phe]: a new alpha-1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.</strong> Hemoglobin 25: 323-329, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570726</a>] [<a href="https://doi.org/10.1081/hem-100105226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11570726">Prehu et al. (2001)</a> identified a new hemoglobin variant, designated Hb Douala, with a C-to-T transition (TCT-TTT) in the HBA1 gene, resulting in a ser3-to-phe (S3F) amino acid substitution. The patient was also heterozygous for Hb S (<a href="/entry/141900#0243">141900.0243</a>) and for a 3.7-kb deletional alpha-thalassemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11570726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0206" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>.0206 THALASSEMIA, ALPHA-PLUS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, 21-BP INS-DUP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1902161681 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1902161681;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1902161681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1902161681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017225 OR RCV003736542" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017225, RCV003736542" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017225...</a>
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient of Iranian descent with the hematologic profile of alpha-plus-thalassemia characterized by mild microcytosis, <a href="#408" class="mim-tip-reference" title="Waye, J. S., Eng, B., Patterson, M., Carcao, M. D., Chang, L., Olivieri, N. F., Chui, D. H. K. <strong>Identification of two new alpha-thalassemia mutations in exon 2 of the alpha-1-globin gene.</strong> Hemoglobin 25: 391-396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791872</a>] [<a href="https://doi.org/10.1081/hem-100107876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791872">Waye et al. (2001)</a> found a 21-bp insertion/duplication that gave rise to a predicted alpha-globin chain containing a duplication of amino acid residues 93-99. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0207" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0207 THALASSEMIA, ALPHA-PLUS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, 33-BP DEL
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017226" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017226" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017226</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient of Greek descent with the hematologic profile of alpha-plus-thalassemia characterized by mild microcytosis, <a href="#408" class="mim-tip-reference" title="Waye, J. S., Eng, B., Patterson, M., Carcao, M. D., Chang, L., Olivieri, N. F., Chui, D. H. K. <strong>Identification of two new alpha-thalassemia mutations in exon 2 of the alpha-1-globin gene.</strong> Hemoglobin 25: 391-396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791872</a>] [<a href="https://doi.org/10.1081/hem-100107876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791872">Waye et al. (2001)</a> found a 33-bp deletion in the HBA1 gene resulting in a predicted alpha-globin chain missing amino acid residues 64-74. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0208" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0208 HEMOGLOBIN DELFZICHT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, ASN9LYS
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928885 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928885;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017227" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017227" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017227</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#145" class="mim-tip-reference" title="Harteveld, C. L., Van Delft, P., Plug, R. J., Erjavec, Z., Wajcman, H., Giordano, P. C. <strong>Hb Delfzicht [alpha-9(A7)asn-to-lys (alpha-1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient.</strong> Hemoglobin 26: 181-184, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144062</a>] [<a href="https://doi.org/10.1081/hem-120005457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144062">Harteveld et al. (2002)</a> reported a 69-year-old Dutch woman monitored for diabetes mellitus in whom Hb A(L1c) analysis revealed a clinically silent hemoglobin variant, asn9 to lys (N9K), due to an AAC-to-AAG transversion in heterozygous state. The mutation was identical to that found at the same position in the HBA2 gene that leads to a variant named Hb Park Ridge (<a href="/entry/141850#0048">141850.0048</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<a id="0209" class="mim-anchor"></a>
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<h4>
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<strong>.0209 HEMOGLOBIN SARATOGA SPRINGS</strong>
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</h4>
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HBA1, LYS40ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928886 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928886;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017228" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017228" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017228</a>
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<p>In a 34-year-old Caucasian male of Swedish ancestry who lived in Saratoga Springs, New York, <a href="#170" class="mim-tip-reference" title="Hoyer, J. D., Weinhold, J., Mailhot, E., Alter, D., McCormick, D. J., Snow, K., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha-40(C5)lys-to-asn (alpha-1)], Hb Santa Clara [beta-97(FG4)his-to-asn], and Hb Sparta [beta-103(G5)phe-to-val].</strong> Hemoglobin 27: 235-241, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14649314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14649314</a>] [<a href="https://doi.org/10.1081/hem-120026048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14649314">Hoyer et al. (2003)</a> identified a hemoglobin variant with abnormal oxygen affinity, designated Hb Saratoga Springs. There was no family history of erythrocytosis. The patient had no smoking history. A change of codon 40 of the HBA1 gene from AAG to AAC resulted in a lys40-to-asn (K40N) change. Lys40 is replaced by glu in Hb Kariya (<a href="#0081">141800.0081</a>), and by met in Hb Kanagawa (<a href="#0169">141800.0169</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14649314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0210" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0210 HEMOGLOBIN DIE</strong>
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</span>
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</h4>
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</div>
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HBA1, VAL93ALA
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34769782 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34769782;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34769782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34769782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017229" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017229" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017229</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 7-year-old girl living near the town of Die in southeast France, <a href="#207" class="mim-tip-reference" title="Lacan, P., Aubry, M., Couprie, N., Francina, A. <strong>Two new alpha chain variants: Hb Die (alpha-93(FG5)val-to-ala (alpha-1)) and Hb Beziers [alpha-99(G6)lys-to-asn (alpha-1)].</strong> Hemoglobin 28: 59-63, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008266</a>] [<a href="https://doi.org/10.1081/hem-120028888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15008266">Lacan et al. (2004)</a> identified a val93-to-ala (V93A) mutation in the HBA1 gene. The family was of French Caucasian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<a id="0211" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0211 HEMOGLOBIN BEZIERS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, LYS99ASN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34273731 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34273731;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34273731?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34273731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34273731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017230" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017230" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017230</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 72-year-old woman of French Caucasian origin living in the city of Beziers in the south of France, <a href="#207" class="mim-tip-reference" title="Lacan, P., Aubry, M., Couprie, N., Francina, A. <strong>Two new alpha chain variants: Hb Die (alpha-93(FG5)val-to-ala (alpha-1)) and Hb Beziers [alpha-99(G6)lys-to-asn (alpha-1)].</strong> Hemoglobin 28: 59-63, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008266</a>] [<a href="https://doi.org/10.1081/hem-120028888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15008266">Lacan et al. (2004)</a> identified a lys99-to-asn (K99N) mutation in the HBA1 gene. The variant was found during the determination of Hb A(1c) by high performance liquid chromatography (HPLC) in this diabetic patient. Hematologic data were normal, without hepatomegaly or splenomegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0212" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0212 HEMOGLOBIN BUFFALO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS89GLN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1061009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1061009;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1061009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1061009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017231 OR RCV001811185 OR RCV004782016" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017231, RCV001811185, RCV004782016" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017231...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 32-year-old Somali male living in the Netherlands who was being monitored for diabetes mellitus, <a href="#144" class="mim-tip-reference" title="Harteveld, C. L., Van Delft, P., Akkermans, N., Arkesteijn, S., Van Rooijen-Nijdam, I. H., Kok, P. J. M. J., Versteegh, F. G. A., Giordano, P. C. <strong>Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], observed solely and in the presence of an Hb S [beta-6(A3)glu-to-val] heterozygosity.</strong> Hemoglobin 28: 223-227, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481890</a>] [<a href="https://doi.org/10.1081/hem-200029150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481890">Harteveld et al. (2004)</a> identified Hb S (<a href="/entry/141900#0243">141900.0243</a>) in heterozygous state and a heterozygous C-to-G transversion in the HBA1 gene, resulting in a his89-to-gln (H89Q) substitution. The H89Q mutation had previously been described in a Yemenite woman and 2 apparently unrelated Somali males (<a href="#169" class="mim-tip-reference" title="Hoyer, J. D., McCormick, D. J., Snow, K., Lawler, J., Jadick, M., Grageda, R., Early, J. L., Ball, C., Skarda, P., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Three new variants of the alpha-1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha-44(CE2)pro-to-ala (alpha-1)]; Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha-95(G2)pro-to-gln (alpha-1)]; and a second, unrelated, case of Hb Roubaix [alpha-55(E4)val-to-leu (alpha-1)].</strong> Hemoglobin 26: 291-298, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403494</a>] [<a href="https://doi.org/10.1081/hem-120015033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12403494">Hoyer et al., 2002</a>), and had been designated Hb Buffalo. No hematologic abnormality had been associated with the allelic variant in this or other cases. In addition to Hb Buffalo, 4 amino acid substitutions had been reported at codon 89: Hb Luton (his89 to leu; <a href="#0172">141800.0172</a>), Hb Villeurbanne (his89 to tyr; <a href="#0213">141800.0213</a>), Hb Tokyo (his89 to pro; <a href="#0214">141800.0214</a>), and Hb Tamano (his89 to arg; <a href="#0215">141800.0215</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15481890+12403494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0213" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0213 HEMOGLOBIN VILLEURBANNE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS89TYR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34988734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34988734;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34988734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34988734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017232" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017232" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017232</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#87" class="mim-tip-reference" title="Deon, C., Prome, J. C., Prome, D., Francina, A., Groff, P., Kalmes, G., Galacteros, F., Wajcman, H. <strong>Combined mass spectrometric methods for the characterization of human hemoglobin variants localized within alpha-T9 peptide: identification of Hb Villeurbanne alpha-89 (FG1) his-to-tyr.</strong> J. Mass Spectrom. 32: 880-887, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9269086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9269086</a>] [<a href="https://doi.org/10.1002/(SICI)1096-9888(199708)32:8<880::AID-JMS547>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9269086">Deon et al. (1997)</a> identified a his89-to-tyr (H89Y) mutation in the HBA1 gene as the defect in Hb Villeurbanne. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9269086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0214" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0214 HEMOGLOBIN TOKYO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, HIS89PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33944813 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33944813;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33944813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33944813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017233</a>
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<p><a href="#144" class="mim-tip-reference" title="Harteveld, C. L., Van Delft, P., Akkermans, N., Arkesteijn, S., Van Rooijen-Nijdam, I. H., Kok, P. J. M. J., Versteegh, F. G. A., Giordano, P. C. <strong>Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], observed solely and in the presence of an Hb S [beta-6(A3)glu-to-val] heterozygosity.</strong> Hemoglobin 28: 223-227, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481890</a>] [<a href="https://doi.org/10.1081/hem-200029150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481890">Harteveld et al. (2004)</a> stated that Hb Tokyo carries a his89-to-pro (H89P) mutation in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0215" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0215 HEMOGLOBIN TAMANO</strong>
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</h4>
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HBA1, HIS89ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33944813 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33944813;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33944813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33944813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017234" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017234" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017234</a>
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</span>
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<p><a href="#144" class="mim-tip-reference" title="Harteveld, C. L., Van Delft, P., Akkermans, N., Arkesteijn, S., Van Rooijen-Nijdam, I. H., Kok, P. J. M. J., Versteegh, F. G. A., Giordano, P. C. <strong>Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], observed solely and in the presence of an Hb S [beta-6(A3)glu-to-val] heterozygosity.</strong> Hemoglobin 28: 223-227, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481890</a>] [<a href="https://doi.org/10.1081/hem-200029150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481890">Harteveld et al. (2004)</a> stated that Hb Tamano carries a his89-to-arg (H89R) mutation in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0216" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0216 HEMOGLOBIN RICCARTON</strong>
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</span>
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</h4>
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HBA1, GLY51SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs33960522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33960522;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs33960522?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs33960522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs33960522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017235 OR RCV001811186 OR RCV003904846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017235, RCV001811186, RCV003904846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017235...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 4-year-old Caucasian boy investigated for fatigue and microcytosis, <a href="#48" class="mim-tip-reference" title="Brennan, S. O., Chan, T., Obele, M., George, P. M. <strong>Hb Riccarton (alpha-51(CE9)gly-to-ser): a variant arising from a novel mutation in the alpha-1 gene.</strong> Hemoglobin 29: 61-64, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15768556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15768556</a>]" pmid="15768556">Brennan et al. (2005)</a> found a GGC-to-AGC transition at codon 51 in the HBA1 gene, resulting in a gly51-to-ser substitution (G51S). The mutation was thought not to be the cause of the microcytosis as it was detected also in the boy's father who had normal red cell indices. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15768556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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</div>
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<a id="0217" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0217 HEMOGLOBIN OEGSTGEEST</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, CYS104SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs35059618 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35059618;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35059618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35059618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017236" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017236" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017236</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an 8-year-old black female of Surinamese origin with a mild alpha-thalassemia phenotype, <a href="#143" class="mim-tip-reference" title="Harteveld, C. L., Rozendaal, L., Blom, N. A., Lo-A-Njoe, S., Akkerman, N., Arkestijn, S., Van Delft, P., Giordano, P. C. <strong>Hb Oegstgeest (alpha-104(G11)cys-to-ser(alpha-1)): a new hemoglobin variant associated with a mild alpha-thalassemia phenotype.</strong> Hemoglobin 29: 165-169, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16114179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16114179</a>] [<a href="https://doi.org/10.1081/hem-200066293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16114179">Harteveld et al. (2005)</a> identified homozygosity for a TGC-to-AGC transversion in the HBA1 gene, resulting in a cys104-to-ser substitution. Cysteine-104 is involved in alpha/beta globin contact and had been described as a critical amino acid of the HBA2 chain when substituted by a tyrosine (cys104 to tyr) in Hb Sallanches (<a href="/entry/141850#0031">141850.0031</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<div>
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<div>
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<a id="0218" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0218 HEMOGLOBIN LAMEN ISLAND</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, 149709T-C
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2142009890 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2142009890;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2142009890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2142009890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017237" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017237" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017237</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#81" class="mim-tip-reference" title="De Gobbi, M., Viprakasit, V., Hughes, J. R., Fisher, C., Buckle, V. J., Ayyub, H., Gibbons, R. J., Vernimmen, D., Yoshinaga, Y., de Jong, P., Cheng, J.-F., Rubin, E. M., Wood, W. G., Bowden, D., Higgs, D. R. <strong>A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.</strong> Science 312: 1215-1217, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728641</a>] [<a href="https://doi.org/10.1126/science.1126431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16728641">De Gobbi et al. (2006)</a> studied 148 individuals from Melanesia with alpha-thalassemia, including 5 with HbH disease, in whom none of the theretofore described molecular defects could be found. The pattern of inheritance suggested that individuals with HbH disease were homozygous for a codominant defect, referred to as (alpha-alpha)T, causing alpha-thalassemia with a predicted genotype of (alpha-alpha)T/(alpha-alpha)T. In situ RNA hybridization in erythroid cells from an affected individual from Lamen Island (Vanuatu) detected substantially fewer nuclear transcripts from the alpha-globin genes than from the beta-globin genes. DNA FISH in 2 affected individuals showed that the alpha-globin cluster was present at its normal location of chromosome 16, and no deletions or chromosomal rearrangements were detected in any of these individuals. Linkage analysis showed that the disease phenotype in individuals was derived from telomeric chromosome 16 T. Only the C allele of SNP195 (C or T, located at coordinate 149709) segregated with thalassemia in the affected families and showed complete association with the (alpha-alpha)T haplotype. This allele was not found in a separate analysis of 131 nonthalassemic Melanesian individuals. SNP195 changes the sequence 5-prime-TAATAA-3-prime (T allele) to 5-prime-TGATAA-3-prime (C allele), potentially creating a new binding site for the key erythroid transcription factor GATA1. GATA1 binds at the C allele of SNP195 in vivo. SNP195 creates a new promoter-like element between the upstream regulatory elements and their cognate promoters. This element, when activated, causes significant downregulation of the alpha-D, alpha-2, and alpha-1 genes that lie downstream, thereby causing alpha-thalassemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16728641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<div>
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<div>
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<a id="0219" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0219 ALPHA-THALASSEMIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HBA1, 1-BP DEL, 354C
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs767911847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs767911847;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs767911847?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs767911847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs767911847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000759777 OR RCV002282356 OR RCV002485969 OR RCV003413547" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000759777, RCV002282356, RCV002485969, RCV003413547" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000759777...</a>
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</span>
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</div>
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<p>In a newborn of mixed black and Chinese descent who carried the Southeast Asian alpha-0-thal deletion, <a href="#96" class="mim-tip-reference" title="Eng, B., Patterson, M., Walker, L., Hoppe, C., Azimi, M., Lee, H., Giordano, P. C., Waye, J. S. <strong>Three new alpha-thalassemia point mutations ascertained through newborn screening.</strong> Hemoglobin 30: 149-153, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16798638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16798638</a>] [<a href="https://doi.org/10.1080/03630260600642021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16798638">Eng et al. (2006)</a> also found a 1-bp deletion of cysteine from codon 78 in exon 2 of the HBA1 gene, resulting in a frameshift and premature termination at codon 83. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16798638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0220 HEMOGLOBIN AUCKLAND</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928876;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28928876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28928876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017239" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017239" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017239</a>
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<p>In a 27-year-old woman with mild compensated hemolytic anemia, <a href="#49" class="mim-tip-reference" title="Brennan, S. O., Matthews, J. R. D. <strong>Hb Auckland (alpha87(F8)his-to-asn): a new mutation of the proximal histidine identified by electrospray mass spectrometry.</strong> Hemoglobin 21: 393-403, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9322075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9322075</a>] [<a href="https://doi.org/10.3109/03630269708993126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9322075">Brennan and Matthews (1997)</a> identified Hb Auckland, a his87-to-asn substitution in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9322075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.9999 HEMOGLOBIN ALPHA VARIANTS, MOLECULAR DEFECT UNKNOWN</strong>
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<p>HEMOGLOBIN J (INDIA). See <a href="#316" class="mim-tip-reference" title="Raper, A. B. <strong>Unusual haemoglobin variant in a Gujerati Indian.</strong> Brit. Med. J. 1: 1285-1286, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13426607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13426607</a>] [<a href="https://doi.org/10.1136/bmj.1.5030.1285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13426607">Raper (1957)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13426607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HEMOGLOBIN J (MALAYA). See <a href="#218" class="mim-tip-reference" title="Lehmann, H. <strong>Haemoglobins and haemoglobinopathies. In: Lehmann, H.; Betke, K.: Haemoglobin-Colloquium.</strong> Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 1-14."None>Lehmann (1962)</a>.</p><p>HEMOGLOBIN K (CALCUTTA). Fast hemoglobin. See <a href="#218" class="mim-tip-reference" title="Lehmann, H. <strong>Haemoglobins and haemoglobinopathies. In: Lehmann, H.; Betke, K.: Haemoglobin-Colloquium.</strong> Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 1-14."None>Lehmann (1962)</a>.</p><p>HEMOGLOBIN K (MADRAS). See <a href="#8" class="mim-tip-reference" title="Ager, J. A. M., Lehmann, H. <strong>Haemoglobin K in an East Indian and his family.</strong> Brit. Med. J. 1: 1449-1450, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13436817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13436817</a>] [<a href="https://doi.org/10.1136/bmj.1.5033.1449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13436817">Ager and Lehmann (1957)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13436817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HEMOGLOBIN KARAMOJO. See <a href="#13" class="mim-tip-reference" title="Allbrook, D., Barnicot, N. A., Dance, N., Lawler, S. D., Marshall, R., Mungai, J. <strong>Blood groups, haemoglobin and serum factors of the Karamojo.</strong> Hum. Biol. 37: 217-237, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4953733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4953733</a>]" pmid="4953733">Allbrook et al. (1965)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4953733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HEMOGLOBIN L (BOMBAY). See <a href="#365" class="mim-tip-reference" title="Sukumaran, P. K., Pik, C. <strong>Some observations on haemoglobin L(Bombay).</strong> Biochim. Biophys. Acta 104: 290-292, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5840408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5840408</a>] [<a href="https://doi.org/10.1016/0304-4165(65)90249-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5840408">Sukumaran and Pik (1965)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5840408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HEMOGLOBIN M (RESERVE). Reduced oxygen affinity and decreased reversible oxygen-binding capacity (<a href="#291" class="mim-tip-reference" title="Overly, W. L., Rosenberg, A., Harris, J. W. <strong>Hemoglobin M (Reserve): studies on identification and characterization.</strong> J. Lab. Clin. Med. 69: 62-87, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6018071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6018071</a>]" pmid="6018071">Overly et al., 1967</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6018071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HEMOGLOBIN N, ALPHA TYPE. An alpha chain anomaly was deduced from molecular hybridization experiments with canine hemoglobin (<a href="#355" class="mim-tip-reference" title="Silvestroni, E., Bianco, I., Brancati, C. <strong>Haemoglobins N and P in Italian families.</strong> Nature 200: 658-659, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14109943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14109943</a>] [<a href="https://doi.org/10.1038/200658a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14109943">Silvestroni et al., 1963</a>). Other hemoglobin N variants have a beta change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14109943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HEMOGLOBIN NICOSIA. See <a href="#99" class="mim-tip-reference" title="Fessas, C., Karaklis, A., Loukopoulos, D., Stamatoyannopoulos, G., Fessas, P. <strong>Hemoglobin Nicosia: an alpha-chain variant and its combination with beta-thalassaemia.</strong> Brit. J. Haemat. 11: 323-330, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14282069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14282069</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1965.tb06592.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14282069">Fessas et al. (1965)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14282069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>See Also:</strong>
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<a href="#Al-Awamy1985" class="mim-tip-reference" title="Al-Awamy, B., Niazi, G. A., Wilson, J. B., Huisman, T. H. J. <strong>Hb Setif or alpha94(G1)asp-to-tyr observed in a Saudi Arabian family.</strong> Hemoglobin 9: 87-90, 1985.">Al-Awamy et al. (1985)</a>; <a href="#Baklouti1988" class="mim-tip-reference" title="Baklouti, F., Francina, A., Dorleac, E., Baudin-Chich, V., Gombaud-Saintonge, G., Plauchu, H., Wajcman, H., Delaunay, J., Godet, J. <strong>Asymptomatic association of hemoglobin Dunn (alpha-6(A4)asp-to-asn) and hemoglobin O-Arab (beta-121[GH4]glu-to-lys) in a Moroccan man.</strong> Am. J. Hemat. 27: 253-256, 1988.">Baklouti et al. (1988)</a>; <a href="#Barg1982" class="mim-tip-reference" title="Barg, R., Barton, P., Caine, A., Clements, R. L., Ferguson-Smith, M. A., Malcolm, S., Morrison, N., Murphy, C. S. <strong>Regional localization of the human alpha-globin gene to the short arm of chromosome 16 (16p12-pter) using both somatic cell hybrids and in situ hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 32: 252-253, 1982.">Barg et al. (1982)</a>; <a href="#Barton1982" class="mim-tip-reference" title="Barton, P., Malcolm, S., Murphy, C., Ferguson-Smith, M. A. <strong>Localization of the human alpha-globin gene cluster to the short arm of chromosome 16 (16p12-16pter) by hybridization in situ.</strong> J. Molec. Biol. 156: 269-278, 1982.">Barton et al. (1982)</a>; <a href="#Brittenham1980" class="mim-tip-reference" title="Brittenham, G., Lozoff, B., Harris, J. W., Kan, Y. W., Dozy, A. M., Nayudu, N. V. S. <strong>Alpha globin gene number: population and restriction endonuclease studies.</strong> Blood 55: 706-708, 1980.">Brittenham et al. (1980)</a>; <a href="#Davis1979" class="mim-tip-reference" title="Davis, J. R., Jr., Dozy, A. M., Lubin, B., Koenig, H. M., Pierce, H. I., Stamatoyannopoulos, G., Kan, Y. W. <strong>Alpha-thalassemia in blacks is due to gene deletion.</strong> Am. J. Hum. Genet. 31: 569-573, 1979.">Davis et al. (1979)</a>; <a href="#Dincol1994" class="mim-tip-reference" title="Dincol, G., Dincol, K., Erdem, S., Pobedimskaya, D. D., Molchanova, T. P., Ye, Z., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Hb Capa or alpha-94(G1)asp-to-gly, a mildly unstable variant with an A-to-G (GAC-to-GGC) mutation in codon 94 of the alpha-1-globin gene.</strong> Hemoglobin 18: 57-60, 1994.">Dincol et al. (1994)</a>; <a href="#Dozy1979" class="mim-tip-reference" title="Dozy, A. M., Kan, Y. W., Embury, S. H., Mentzer, W. C., Wang, W. C. <strong>Alpha-globin gene organisation in blacks precludes the severe form of alpha-thalassaemia.</strong> Nature 280: 605-607, 1979.">Dozy et al. (1979)</a>; <a href="#Embury1979" class="mim-tip-reference" title="Embury, S. H., Lebo, R. V., Dozy, A. M., Kan, Y. W. <strong>Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.</strong> J. Clin. Invest. 63: 1307-1310, 1979.">Embury et al. (1979)</a>; <a href="#Harano1983" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Imai, K. <strong>Hb Chesapeake (alpha92 (FG4) arg-to-leu) and Hb J Cape Town (alpha92 (FG4) arg-to-gln) first discovered in Japanese.</strong> Hemoglobin 7: 461-465, 1983.">Harano et al. (1983)</a>; <a href="#Harano1983" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Imai, K. <strong>Hb Chesapeake (alpha92 (FG4) arg-to-leu) and Hb J Cape Town (alpha92 (FG4) arg-to-gln) first discovered in Japanese.</strong> Hemoglobin 7: 461-465, 1983.">Harano et al. (1983)</a>; <a href="#Harano1983" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Imai, K. <strong>Hb Chesapeake (alpha92 (FG4) arg-to-leu) and Hb J Cape Town (alpha92 (FG4) arg-to-gln) first discovered in Japanese.</strong> Hemoglobin 7: 461-465, 1983.">Harano et al. (1983)</a>; <a href="#Harano1984" class="mim-tip-reference" title="Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Seki, M. <strong>Hemoglobin Aichi (alpha50 (CE8) his-to-arg): a new slightly unstable hemoglobin variant discovered in Japan.</strong> FEBS Lett. 169: 297-299, 1984.">Harano et al. (1984)</a>; <a href="#Harano1982" class="mim-tip-reference" title="Harano, T., Harano, K., Ueda, S., Shibata, S., Imai, K., Ohba, Y., Shinohara, T., Horio, S., Nishioka, K., Shirotani, H. <strong>Hemoglobin Kawachi (alpha 44 (CE2) pro-to-arg): a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha(1)-beta(2) contact.</strong> Hemoglobin 6: 43-49, 1982.">Harano et al. (1982)</a>; <a href="#Hess1983" class="mim-tip-reference" title="Hess, J. F., Fox, M., Schmid, C., Shen, C.-K. J. <strong>Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences.</strong> Proc. Nat. Acad. Sci. 80: 5970-5974, 1983.">Hess et al. (1983)</a>; <a href="#Higgs1981" class="mim-tip-reference" title="Higgs, D. R., Goodbourn, S. E. Y., Wainscoat, J. S., Clegg, J. B., Weatherall, D. J. <strong>Highly variable regions of DNA flank the human alpha-globin genes.</strong> Nucleic Acids Res. 9: 4213-4224, 1981.">Higgs
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et al. (1981)</a>; <a href="#Hill1985" class="mim-tip-reference" title="Hill, A. V. S., Bowden, D. K., Trent, R. J., Higgs, D. R., Oppenheimer, S. J., Thein, S. L., Mickleson, K. N. P., Weatherall, D. J., Clegg, J. B. <strong>Melanesians and Polynesians share a unique alpha-thalassemia mutation.</strong> Am. J. Hum. Genet. 37: 571-580, 1985.">Hill et al. (1985)</a>; <a href="#Huisman1976" class="mim-tip-reference" title="Huisman, T. H. J., Miller, A. <strong>Hb Grady and alpha-thalassemia: a contribution to the problem of the number of Hb (alpha) structural loci in man.</strong> Am. J. Hum. Genet. 28: 363-369, 1976.">Huisman and Miller (1976)</a>; <a href="#Kan1979" class="mim-tip-reference" title="Kan, Y. W., Dozy, A. M., Stamatoyannopoulos, G., Hadjiminas, M. G., Zachariadis, Z., Furbetta, M., Cao, A. <strong>Molecular basis of hemoglobin-H disease in the Mediterranean population.</strong> Blood 54: 1434-1438, 1979.">Kan et
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al. (1979)</a>; <a href="#Kielman1993" class="mim-tip-reference" title="Kielman, M. F., Smits, R., Devi, T. S., Fodde, R., Bernini, L. F. <strong>Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse.</strong> Mammalian Genome 4: 314-323, 1993.">Kielman et al. (1993)</a>; <a href="#Li1990" class="mim-tip-reference" title="Li, H., Zhao, X., Qin, F., Li, H., Li, L., He, X., Chang, X., Li, Z., Liang, K., Xing, F., Chang, W., Wong, R., Yang, I., Li, F., Zhang, T., Tian, R., Webber, B. B., Wilson, J. B., Huisman, T. H. J. <strong>Abnormal hemoglobins in the Silk Road region of China.</strong> Hum. Genet. 86: 231-235, 1990.">Li et al. (1990)</a>; <a href="#Liang1981" class="mim-tip-reference" title="Liang, C.-C., Chen, S.-S., Jia, P.-C., Wang, L.-F., Luo, H.-Y., Liu, G.-Y., Liang, S., Lung, G.-F., Yu, C.-M., Zuang, L.-Z., Liant, B.-L., Tang, Z.-N. <strong>Hemoglobin Duan (alpha75(EF4) asp-to-ala), a new variant found in China.</strong> Hemoglobin 5: 481-486, 1981.">Liang et al.
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(1981)</a>; <a href="#Liebhaber1980" class="mim-tip-reference" title="Liebhaber, S. A., Goossens, M. J., Kan, Y. W. <strong>Cloning and complete nucleotide sequence of human 5(prime)-alpha-globin gene.</strong> Proc. Nat. Acad. Sci. 77: 7054-7058, 1980.">Liebhaber et al. (1980)</a>; <a href="#Marinucci1979" class="mim-tip-reference" title="Marinucci, M., Mavilio, F., Tentori, L., Bestetti, A. <strong>Occurrence of Hb J Paris in an Italian family and recombination studies on the free abnormal alpha-chain.</strong> Hemoglobin 3: 465-469, 1979.">Marinucci et al. (1979)</a>; <a href="#Meloni1980" class="mim-tip-reference" title="Meloni, T., Pilo, G., Camardella, L., Cancedda, F., Lania, A., Pepe, G., Luzzatto, L. <strong>Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population).</strong> Blood 55: 1025-1032, 1980.">Meloni et
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al. (1990)</a>; <a href="#Weatherall1979" class="mim-tip-reference" title="Weatherall, D. J., Clegg, J. B. <strong>Recent developments in the molecular genetics of human hemoglobin.</strong> Cell 16: 467-479, 1979.">Weatherall and Clegg (1979)</a>; <a href="#Zimmer1980" class="mim-tip-reference" title="Zimmer, E. A., Martin, S. L., Beverley, S. M., Kan, Y. W., Wilson, A. C. <strong>Rapid duplication and loss of genes coding for the alpha chains of hemoglobin.</strong> Proc. Nat. Acad. Sci. 77: 2158-2162, 1980.">Zimmer et al. (1980)</a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div class="">
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<p class="mim-text-font">
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[<a href="https://doi.org/10.3109/03630269209005687" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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Abdo, M. Z.
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<strong>Hb Setif (alpha94(G1)asp-to-tyr) in a Saudi Arabian family.</strong>
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[<a href="https://doi.org/10.3109/03630268908998847" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Abramov1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Abramov, A., Lehmann, H., Robb, L.
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<strong>Hb Shaare Zedek (alpha56 E5 lys-to-glu).</strong>
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[<a href="https://doi.org/10.1016/0014-5793(80)80599-0" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Abramson1970" class="mim-anchor"></a>
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<div class="">
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Abramson, R. K., Rucknagel, D. L., Shreffler, D. C., Saave, J. J.
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Science 169: 194-196, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5427353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5427353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5427353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.169.3941.194" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Adams1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Adams, J. G., III, Winter, W. P., Rucknagel, D. L., Spencer, H. H.
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<strong>Biosynthesis of hemoglobin Ann Arbor: evidence for catabolic and feedback regulation.</strong>
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Science 176: 1427-1429, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5033650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5033650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5033650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.176.4042.1427" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Adams1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Adams, J. G., III.
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<strong>Hemoglobin Ann Arbor: disturbance in the coordinated biosynthesis of globin chains?</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4530655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4530655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4530655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1749-6632.1974.tb21881.x" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Ager1958" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ager, J. A. M., Lehmann, H., Vella, F.
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<strong>Haemoglobin 'Norfolk': a new haemoglobin found in an English family.</strong>
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Brit. Med. J. 2: 539-541, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13572830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13572830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13572830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.2.5095.539" target="_blank">Full Text</a>]
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</p>
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<a id="8" class="mim-anchor"></a>
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<a id="Ager1957" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ager, J. A. M., Lehmann, H.
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<strong>Haemoglobin K in an East Indian and his family.</strong>
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Brit. Med. J. 1: 1449-1450, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13436817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13436817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13436817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.1.5033.1449" target="_blank">Full Text</a>]
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<a id="Ahmed1986" class="mim-anchor"></a>
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Ahmed, A., Naqvi, S., Ehsanullah, S., Zaidi, Z. H.
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<strong>Abnormal hemoglobin 11 - Hb (Karachi), an alpha chain abnormality at position 5 ala-pro.</strong>
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<a id="Al-Awamy1985" class="mim-anchor"></a>
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<div class="">
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Al-Awamy, B. H., Niazi, G. A., Naeem, M. A., Wilson, J. B., Huisman, T. H. J.
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<strong>Hemoglobin Handsworth or alpha18(A16)gly-to-arg in a Saudi newborn.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4030381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4030381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4030381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508997001" target="_blank">Full Text</a>]
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<a id="Al-Awamy1985" class="mim-anchor"></a>
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Al-Awamy, B., Niazi, G. A., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Setif or alpha94(G1)asp-to-tyr observed in a Saudi Arabian family.</strong>
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Hemoglobin 9: 87-90, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3997545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3997545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3997545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508996987" target="_blank">Full Text</a>]
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Alberti, R., Mariuzzi, G. M., Artibani, L., Bruni, E., Tentori, L.
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<strong>A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine to aspartic acid.</strong>
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[<a href="https://doi.org/10.1016/0005-2795(74)90099-3" target="_blank">Full Text</a>]
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Allbrook, D., Barnicot, N. A., Dance, N., Lawler, S. D., Marshall, R., Mungai, J.
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[<a href="https://doi.org/10.1007/BF00293285" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/196229a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14377.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajh.2830270405" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1972.tb01989.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.4.5683.586" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630269409014140" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0167-4838(90)90279-o" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268908998846" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-2836(82)90328-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268709005789" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/207259a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/235046a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000151984" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-5793(75)80265-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/2171016a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268408991712" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(72)90008-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(73)90170-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(70)90044-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/212792a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/214499a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268609014134" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(77)90276-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630269708993126" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-5793(77)80940-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00283625" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.25.12.847" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630267809005354" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268508997005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI105397" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268108996924" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630267808999194" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-5793(75)80480-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(74)90059-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268609046440" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(73)90211-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00202420" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630260009002276" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/2081059a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1139/o69-023" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.943846" target="_blank">Full Text</a>]
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<strong>Combined mass spectrometric methods for the characterization of human hemoglobin variants localized within alpha-T9 peptide: identification of Hb Villeurbanne alpha-89 (FG1) his-to-tyr.</strong>
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[<a href="https://doi.org/10.1002/(SICI)1096-9888(199708)32:8<880::AID-JMS547>3.0.CO;2-M" target="_blank">Full Text</a>]
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<strong>The first observation of an abnormal hemoglobin in a Jewish family: hemoglobin Beilinson.</strong>
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[<a href="https://doi.org/10.1111/j.1365-2141.1963.tb05472.x" target="_blank">Full Text</a>]
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<strong>Hb Capa or alpha-94(G1)asp-to-gly, a mildly unstable variant with an A-to-G (GAC-to-GGC) mutation in codon 94 of the alpha-1-globin gene.</strong>
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Hemoglobin 18: 57-60, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269409014146" target="_blank">Full Text</a>]
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<strong>Hb Setif [alpha-94(G1)asp-to-tyr (alpha-2)] detected in a Turkish family.</strong>
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[<a href="https://doi.org/10.1081/hem-120026050" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/280605a0" target="_blank">Full Text</a>]
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<strong>Growth hormone receptor (Ghr) and hemoglobin alpha-chain pseudogene 3 (Hba-ps3) map proximal to the myelocytomatosis oncogene (Myc) on mouse chromosome 15.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1794046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1794046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1794046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00350847" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI109426" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1080/03630260600642021" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12779278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120021550" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0167-4838(93)90148-k" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14282069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14282069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14282069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1965.tb06592.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000152211" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/740406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">740406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=740406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/00313027809063520" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6153381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6153381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6153381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268009042372" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3654264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3654264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3654264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709017887" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630269209005698" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="123" class="mim-anchor"></a>
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<a id="Groff1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Groff, P., Galacteros, F., Kalmes, G., Blouquit, Y., Wajcman, H.
|
|
<strong>HB Luxembourg (alpha24(B5)tyr-to-his): a new unstable variant.</strong>
|
|
Hemoglobin 13: 429-436, 1989.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2599879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268908998082" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="124" class="mim-anchor"></a>
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<a id="Guis1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Guis, M., Mentzer, W. C., Jue, D. L., Johnson, M. H., McGuffey, J. E., Moo-Penn, W. F.
|
|
<strong>Hemoglobin Twin Peaks: alpha113(GH1) leu-to-his.</strong>
|
|
Hemoglobin 9: 175-177, 1985.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508996999" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="125" class="mim-anchor"></a>
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<a id="Hamaguchi1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Hamaguchi, K., Harano, K., Harano, T., Sakata, T.
|
|
<strong>Hb Oita (alpha-45(CE3)his-to-pro): a new silent hemoglobin variant.</strong>
|
|
Hemoglobin 22: 347-354, 1998. Note: Erratum: Hemoglobin 22: 539-540, 1998.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9730365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9730365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9730365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269809071529" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="126" class="mim-anchor"></a>
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<a id="Hanada1964" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
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Hanada, M., Ohta, Y., Imamura, T., Fejimura, T., Kawasaki, K., Kosaka, K., Yamaoka, K., Seita, M.
|
|
<strong>Studies of abnormal hemoglobins in western Japan. (Abstract)</strong>
|
|
Jpn. J. Hum. Genet. 9: 253-254, 1964.
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</p>
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</div>
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</li>
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<li>
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<a id="127" class="mim-anchor"></a>
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<a id="Hanada1964" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Hanada, M., Rucknagel, D. L.
|
|
<strong>The characterization of hemoglobin Shimonoseki.</strong>
|
|
Blood 24: 624-635, 1964.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14236737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14236737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14236737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="128" class="mim-anchor"></a>
|
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<a id="Hansen1960" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Hansen, H. A., Jagenburg, O. R., Johansson, B. G.
|
|
<strong>Studies on an abnormal hemoglobin causing hereditary congenital cyanosis.</strong>
|
|
Acta Paediatr. (Stockh.) 49: 503-511, 1960.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14399582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14399582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14399582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1111/j.1651-2227.1960.tb07765.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="129" class="mim-anchor"></a>
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<a id="Harano1984" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Harano, K., Harano, T., Shibata, S., Mori, H., Ueda, S., Imai, K., Ohba, Y., Irimajiri, K.
|
|
<strong>Hb J Oxford (alpha15 (A13) gly-to-asp) in Japan.</strong>
|
|
Hemoglobin 8: 197-198, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6469697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6469697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6469697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
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|
|
[<a href="https://doi.org/10.3109/03630268408991714" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="130" class="mim-anchor"></a>
|
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<a id="Harano2003" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Hong, Y.-F., Than, A. M., Suetsugu, Y., Ohba, K.
|
|
<strong>The mutation of Hb Turriff (alpha-99(G6)lys-to-glu (AAG-GAG)) is carried by the alpha-1-globin gene in a Japanese (Hb Turriff-I).</strong>
|
|
Hemoglobin 27: 123-127, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12779275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1081/hem-120021547" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="131" class="mim-anchor"></a>
|
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<a id="Harano1996" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Imai, K., Terunuma, S.
|
|
<strong>Hb Swan River (alpha6(A4)asp-to-gly) observed in a Japanese man.</strong>
|
|
Hemoglobin 20: 75-78, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8745434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.3109/03630269609027912" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="132" class="mim-anchor"></a>
|
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<a id="Harano1988" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Imai, N., Ueda, S., Seki, M.
|
|
<strong>An electrophoretically silent hemoglobin variant, Hb Hekinan (alpha27 (B8) glu-to-asp) found in a Japanese.</strong>
|
|
Hemoglobin 12: 61-65, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3384699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.3109/03630268808996883" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="133" class="mim-anchor"></a>
|
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<a id="Harano1982" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M.
|
|
<strong>Hb Handa (alpha90 (FG2) lys-to-met): structure and biosynthesis of a new slightly higher oxygen affinity variant.</strong>
|
|
Hemoglobin 6: 379-389, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6815131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6815131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6815131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
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|
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[<a href="https://doi.org/10.3109/03630268208996943" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="134" class="mim-anchor"></a>
|
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<a id="Harano1983" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M.
|
|
<strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong>
|
|
Hemoglobin 7: 85-90, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6188720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.3109/03630268309038404" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="135" class="mim-anchor"></a>
|
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<a id="Harano1983" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Uchida, E., Horiuchi, K.
|
|
<strong>Hb Le Lamentin (alpha20 (B1) his-to-gln) in Japan: structure, function and biosynthesis.</strong>
|
|
Hemoglobin 7: 181-184, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6671903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6671903</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6671903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268309048645" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="136" class="mim-anchor"></a>
|
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<a id="Harano1983" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Yamada, H., Seki, M., Fukui, H.
|
|
<strong>Hemoglobin Kariya (alpha40 (C5) lys-to-glu) a new hemoglobin variant with an increased oxygen affinity.</strong>
|
|
FEBS Lett. 153: 332-334, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6137414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6137414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6137414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/0014-5793(83)80636-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="137" class="mim-anchor"></a>
|
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<a id="Harano1983" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Imai, K.
|
|
<strong>Hb Chesapeake (alpha92 (FG4) arg-to-leu) and Hb J Cape Town (alpha92 (FG4) arg-to-gln) first discovered in Japanese.</strong>
|
|
Hemoglobin 7: 461-465, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6629827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6629827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6629827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
[<a href="https://doi.org/10.3109/03630268309038415" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="138" class="mim-anchor"></a>
|
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<a id="Harano1984" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Seki, M.
|
|
<strong>Hemoglobin Aichi (alpha50 (CE8) his-to-arg): a new slightly unstable hemoglobin variant discovered in Japan.</strong>
|
|
FEBS Lett. 169: 297-299, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6714429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6714429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6714429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
|
[<a href="https://doi.org/10.1016/0014-5793(84)80337-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="139" class="mim-anchor"></a>
|
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<a id="Harano1982" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Ueda, S., Shibata, S., Imai, K., Ohba, Y., Shinohara, T., Horio, S., Nishioka, K., Shirotani, H.
|
|
<strong>Hemoglobin Kawachi (alpha 44 (CE2) pro-to-arg): a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha(1)-beta(2) contact.</strong>
|
|
Hemoglobin 6: 43-49, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7068434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7068434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7068434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268208996932" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
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<a id="140" class="mim-anchor"></a>
|
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<a id="Harano1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Ueda, S.
|
|
<strong>Hb Owari (alpha121 (H4) val-to-met): a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing.</strong>
|
|
Hemoglobin 10: 127-134, 1986.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3754245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3754245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3754245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268609046439" target="_blank">Full Text</a>]
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</p>
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<a id="141" class="mim-anchor"></a>
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<a id="Harano1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harano, T., Harano, K., Uehara, S., Matsushita, K.
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<strong>Two new alpha chain variants: Hb Fuchu-I (alpha-72(EF1)his-to-tyr) and Hb Fuchu-II (alpha-97(G4)asn-to-his).</strong>
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Hemoglobin 19: 389-395, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8718697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8718697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8718697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269509005830" target="_blank">Full Text</a>]
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<a id="142" class="mim-anchor"></a>
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<a id="Hardison1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hardison, R. C., Sawada, I., Cheng, J.-F., Shen, C.-K. J., Schmid, C. W.
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<strong>A previously undetected pseudogene in the human alpha globin gene cluster.</strong>
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Nucleic Acids Res. 14: 1903-1911, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3952001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3952001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3952001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/14.4.1903" target="_blank">Full Text</a>]
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</p>
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<a id="143" class="mim-anchor"></a>
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<a id="Harteveld2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harteveld, C. L., Rozendaal, L., Blom, N. A., Lo-A-Njoe, S., Akkerman, N., Arkestijn, S., Van Delft, P., Giordano, P. C.
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<strong>Hb Oegstgeest (alpha-104(G11)cys-to-ser(alpha-1)): a new hemoglobin variant associated with a mild alpha-thalassemia phenotype.</strong>
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Hemoglobin 29: 165-169, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16114179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16114179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-200066293" target="_blank">Full Text</a>]
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</p>
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<a id="144" class="mim-anchor"></a>
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<a id="Harteveld2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harteveld, C. L., Van Delft, P., Akkermans, N., Arkesteijn, S., Van Rooijen-Nijdam, I. H., Kok, P. J. M. J., Versteegh, F. G. A., Giordano, P. C.
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|
<strong>Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], observed solely and in the presence of an Hb S [beta-6(A3)glu-to-val] heterozygosity.</strong>
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Hemoglobin 28: 223-227, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-200029150" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="145" class="mim-anchor"></a>
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<a id="Harteveld2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harteveld, C. L., Van Delft, P., Plug, R. J., Erjavec, Z., Wajcman, H., Giordano, P. C.
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|
<strong>Hb Delfzicht [alpha-9(A7)asn-to-lys (alpha-1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient.</strong>
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Hemoglobin 26: 181-184, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120005457" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="146" class="mim-anchor"></a>
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<a id="Harteveld2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harteveld, C. L., Wijermans, P. W., de Ree, J. E. L. M., Ter Hal, P., Van Delft, P., Van Rooijen-Nijdam, I. H., Rasp, E., Kok, P. J. M. J., Souverijn, J. H. M., Versteegh, F. G. A., Giordano, P. C.
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<strong>A new Hb Evanston allele (alpha-14(A12)trp-to-arg) found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.</strong>
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Hemoglobin 28: 1-5, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120028881" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="147" class="mim-anchor"></a>
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<a id="Hatton1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hatton, C. S. R., Wilkie, A. O. M., Drysdale, H. C., Wood, W. G., Vickers, M. A., Sharpe, J., Ayyub, H., Pretorius, I. M., Buckle, V. J., Higgs, D. R.
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|
<strong>Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha-globin gene cluster.</strong>
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|
Blood 76: 221-227, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2364173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2364173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2364173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="148" class="mim-anchor"></a>
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<a id="Hattori1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hattori, Y., Ohba, Y., Suda, T., Miura, Y., Yoshinaka, H., Miyaji, T.
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<strong>Hemoglobin Guizhou in Japan.</strong>
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Hemoglobin 9: 187-192, 1985.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508997002" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="149" class="mim-anchor"></a>
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<a id="Hayashi1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hayashi, A., Yamamura, Y., Ogita, S., Kikkawa, H.
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<strong>Hemoglobin M (Osaka), a new variant of hemoglobin M.</strong>
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Jpn. J. Hum. Genet. 9: 87-94, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5893086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5893086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5893086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="150" class="mim-anchor"></a>
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<a id="Headlee1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Headlee, M. G., Nakatsuji, T., Lam, H., Wrightstone, R. N., Huisman, T. H. J.
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<strong>Hb Etobicoke, alpha85(F5) ser-to-arg found in a newborn of French-Indian-English descent.</strong>
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Hemoglobin 7: 285-287, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6874377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6874377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6874377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268309048660" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="151" class="mim-anchor"></a>
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<a id="Heller1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heller, P., Weinstein, H. G., Yakulis, V. J., Rosenthal, I. M.
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<strong>Hemoglobin M (Kankakee), a new variant of hemoglobin M.</strong>
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Blood 20: 287-301, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13906251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13906251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13906251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<a id="152" class="mim-anchor"></a>
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<a id="Heller1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heller, P.
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<strong>Hemoglobin M (Chicago) and M (Kankakee). In: Lehmann, H.; Betke, K. (eds.): Haemoglobin-Colloquium.</strong>
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Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 47-49.
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</p>
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<a id="153" class="mim-anchor"></a>
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<a id="Hess1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hess, J. F., Fox, M., Schmid, C., Shen, C.-K. J.
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<strong>Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences.</strong>
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Proc. Nat. Acad. Sci. 80: 5970-5974, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6310609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6310609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6310609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.80.19.5970" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="154" class="mim-anchor"></a>
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<a id="Hidaka1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hidaka, K., Iuchi, I., Kobayashi, T., Katoh, K., Yaguchi, K.
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<strong>Hb Fukutomi (alpha126(H9)asp-to-val): a new hemoglobin variant with high oxygen affinity.</strong>
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Hemoglobin 14: 499-509, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2079432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269009005803" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="155" class="mim-anchor"></a>
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<a id="Higgs1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Higgs, D. R., Goodbourn, S. E. Y., Wainscoat, J. S., Clegg, J. B., Weatherall, D. J.
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<strong>Highly variable regions of DNA flank the human alpha-globin genes.</strong>
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Nucleic Acids Res. 9: 4213-4224, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6272199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6272199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6272199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/9.17.4213" target="_blank">Full Text</a>]
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</p>
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<a id="156" class="mim-anchor"></a>
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<a id="Higgs1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Higgs, D. R., Hunt, D. M., Drysdale, H. C., Clegg, J. B., Pressley, L., Weatherall, D. J.
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<strong>The genetic basis of Hb Q-H disease.</strong>
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Brit. J. Haemat. 46: 387-400, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7448125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7448125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7448125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1980.tb05985.x" target="_blank">Full Text</a>]
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</p>
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<a id="157" class="mim-anchor"></a>
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<a id="Higgs1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Higgs, D. R., Vickers, M. A., Wilkie, A. O. M., Pretorius, I.-M., Jarman, A. P., Weatherall, D. J.
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<strong>A review of the molecular genetics of the alpha-globin gene cluster.</strong>
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Blood 73: 1081-1104, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2649166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2649166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2649166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="158" class="mim-anchor"></a>
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<a id="Higgs1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Higgs, D. R., Wainscoat, J. S., Flint, J., Hill, A. V. S., Thein, S. L., Nicholls, R. D., Teal, H., Ayyub, H., Peto, T. E. A., Falusi, A. G., Jarman, A. P., Clegg, J. B., Weatherall, D. J.
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[<a href="https://doi.org/10.1073/pnas.83.14.5165" target="_blank">Full Text</a>]
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Hill, A. V. S., Bowden, D. K., Trent, R. J., Higgs, D. R., Oppenheimer, S. J., Thein, S. L., Mickleson, K. N. P., Weatherall, D. J., Clegg, J. B.
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<strong>Melanesians and Polynesians share a unique alpha-thalassemia mutation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2988335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2988335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2988335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.24.12.767" target="_blank">Full Text</a>]
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<strong>Hemoglobin Nigeria (alpha81 ser-to-cys), a new variant having an inhibitory effect on the gelation of sickle hemoglobin. (Abstract)</strong>
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<strong>Hb Evanston (alpha 14 trp-to-arg): a new variant with thalassemia-like hematologic expression. (Abstract)</strong>
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<strong>Hemoglobin Petah Tikva (alpha 110 ala-to-asp): a new unstable variant with alpha-thalassemia-like expression.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7470621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7470621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7470621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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Honig, G. R., Vida, L. N., Shamsuddin, M., Mason, R. G., Schlumpf, H. W., Luke, R. A.
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<strong>Hemoglobin Milledgeville (alpha44 (CD2) pro-to-leu): a new variant with increased oxygen affinity.</strong>
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Biochim. Biophys. Acta 626: 424-431, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7213661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7213661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7213661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(80)90138-5" target="_blank">Full Text</a>]
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</p>
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</div>
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<strong>Hemoglobin M Iwate is caused by a C-to-T transition in codon 87 of the human alpha-1-globin gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3026948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00273839" target="_blank">Full Text</a>]
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</p>
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Houjun, L., Dexiang, L., Zhiguo, L., Ping, L., Ly, L., Ji, C., Shaozhi, H.
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<strong>A new fast-moving hemoglobin variant, Hb J-Tashikuergan alpha19 (AB1) ala-to-glu.</strong>
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Hemoglobin 8: 391-395, 1984.
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Hoyer, J. D., McCormick, D. J., Snow, K., Lawler, J., Jadick, M., Grageda, R., Early, J. L., Ball, C., Skarda, P., Kubik, K. S., Holmes, M. W., Fairbanks, V. F.
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<strong>Three new variants of the alpha-1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha-44(CE2)pro-to-ala (alpha-1)]; Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha-95(G2)pro-to-gln (alpha-1)]; and a second, unrelated, case of Hb Roubaix [alpha-55(E4)val-to-leu (alpha-1)].</strong>
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Hemoglobin 26: 291-298, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12403494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120015033" target="_blank">Full Text</a>]
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</p>
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</div>
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<p class="mim-text-font">
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Hoyer, J. D., Weinhold, J., Mailhot, E., Alter, D., McCormick, D. J., Snow, K., Kubik, K. S., Holmes, M. W., Fairbanks, V. F.
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<strong>Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha-40(C5)lys-to-asn (alpha-1)], Hb Santa Clara [beta-97(FG4)his-to-asn], and Hb Sparta [beta-103(G5)phe-to-val].</strong>
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Hemoglobin 27: 235-241, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14649314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14649314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14649314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120026048" target="_blank">Full Text</a>]
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</p>
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<strong>Hemoglobin G Georgia or alpha 95 leu (G-2) beta 2.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5436649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5436649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5436649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(70)90117-0" target="_blank">Full Text</a>]
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<strong>Hb Grady and alpha-thalassemia: a contribution to the problem of the number of Hb (alpha) structural loci in man.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/941904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">941904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=941904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14449876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14449876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14449876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/193489a0" target="_blank">Full Text</a>]
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</div>
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Huisman, T. H. J., Wilson, J. B., Gravely, M., Hubbard, M.
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<strong>Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4528583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4528583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4528583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.71.8.3270" target="_blank">Full Text</a>]
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<strong>A second and a third abnormal haemoglobin in Norfolk. Hb G-Norfolk and Hb D-Norfolk.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13955802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13955802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13955802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.1.5332.720" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Hyde, R. D., Kinderlerer, J. L., Lehmann, H., Hall, M.
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<strong>Hb J Rajappen.</strong>
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Biochim. Biophys. Acta 243: 515-519, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5129592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5129592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5129592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Structure-function relationships in hemoglobin Kariya, lys40(C5)alpha-to-glu, with high oxygen affinity: functional role of the salt bridge between lys40alpha and the beta-chain COOH terminus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2500435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2500435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2500435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5927878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5927878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5927878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<strong>Formation of normal and double abnormal haemoglobins by recombination of haemoglobin I with S and C.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14405987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14405987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14405987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/1831799a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.46.11.1492" target="_blank">Full Text</a>]
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</p>
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<a id="182" class="mim-anchor"></a>
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<strong>Hemoglobin G Taichung (alpha 74 asp-to-his) heterozygotes found in two Japanese families.</strong>
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Hemoglobin 2: 79-84, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=640847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267808999193" target="_blank">Full Text</a>]
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<strong>Hemoglobin Mizushi (alpha75 EF4 asp-to-gly): a new hemoglobin variant observed in a Japanese family.</strong>
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Hemoglobin 4: 209-214, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7390865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<strong>A new hypervariable marker for the human alpha-globin gene cluster.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2901223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2901223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2901223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<strong>Hemoglobin Guangzhou, alpha64 (E3) asp-to-gly, a new abnormal hemoglobin found in Guangzhou, China.</strong>
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Hemoglobin 11: 25-30, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3454663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3454663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3454663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709036577" target="_blank">Full Text</a>]
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<strong>Chemical characterization of hemoglobin Mexico and hemoglobin Chiapas.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5650416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5650416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5650416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(68)90008-1" target="_blank">Full Text</a>]
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<a id="187" class="mim-anchor"></a>
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<strong>The chemical structure of hemoglobin Mexico determined by automatic peptide chromatography and subunit hybridization.</strong>
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<strong>Hemoglobin Dunn: alpha6 aspartic acid-to-asparagine.</strong>
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Hemoglobin 3: 137-143, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/478975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">478975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=478975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267908998909" target="_blank">Full Text</a>]
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</p>
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<strong>Hb Savaria or alpha49(CE7)ser-to-arg in a Yugoslavian family.</strong>
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Hemoglobin 9: 631-633, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3937826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3937826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3937826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508997046" target="_blank">Full Text</a>]
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<a id="Kamuzora1974" class="mim-anchor"></a>
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<strong>A new hemoglobin variant. Hemoglobin J (Birmingham): alpha 120 (H3) ala-to-glu.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=508946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/980019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">980019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=980019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197611182952104" target="_blank">Full Text</a>]
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<a id="Kazanetz1995" class="mim-anchor"></a>
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<strong>Hb Anamosa or alpha(2)-111(G18)ala--val-beta2 (alpha2 mutation) and Hb Mulhacen or alpha(2)-123(H6)ala--ser-beta2 (alpha1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.</strong>
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Hemoglobin 19: 1-6, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7615398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7615398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7615398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269509069724" target="_blank">Full Text</a>]
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<a id="Kendall1973" class="mim-anchor"></a>
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<strong>Hemoglobin J (Nyanza) alpha 21 (B2) ala-to-asp.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4719146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4719146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4719146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(73)90116-5" target="_blank">Full Text</a>]
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<strong>Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8318735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00357090" target="_blank">Full Text</a>]
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<a id="Kilinc1985" class="mim-anchor"></a>
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<strong>Hemoglobin O-Padova or alpha30(B11)glu-to-lys observed in members of a Turkish family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2869010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2869010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2869010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508997044" target="_blank">Full Text</a>]
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<a id="Kister1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kister, J., Kiger, L., Francina, A., Hanny, P., Szymanowicz, A., Blouquit, Y., Prome, D., Galacteros, F., Delaunay, J., Wajcman, H.
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<strong>Hemoglobin Roanne (alpha94(G1)asp-to-glu): a variant of the alpha-1 beta-2 interface with an unexpected high oxygen affinity.</strong>
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Biochim. Biophys. Acta 1246: 34-38, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7811728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(94)00190-r" target="_blank">Full Text</a>]
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</p>
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<a id="198" class="mim-anchor"></a>
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<a id="Kleihauer1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kleihauer, E. F., Reynolds, C. A., Dozy, A. M., Wilson, J. B., Moores, R. R., Berenson, M. P., Wright, C. S., Huisman, T. H. J.
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<strong>Hemoglobin Bibba or alpha(2)136 pro beta(2), an unstable alpha chain abnormal hemoglobin.</strong>
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Biochim. Biophys. Acta 154: 220-221, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5639009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5639009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5639009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(68)90274-2" target="_blank">Full Text</a>]
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</p>
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<a id="199" class="mim-anchor"></a>
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<a id="Knuth1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Knuth, A., Pribilla, W., Marti, H. R., Winterhalter, K. H.
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<strong>Hemoglobin Moabit: alpha 86 (F7) leu-to-arg: a new unstable abnormal hemoglobin.</strong>
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Acta Haemat. 61: 121-124, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/108887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">108887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=108887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000207643" target="_blank">Full Text</a>]
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</p>
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<a id="200" class="mim-anchor"></a>
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<a id="Koeffler1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koeffler, H. P., Sparkes, R. S., Stang, H., Mohandas, T.
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<strong>Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16.</strong>
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Proc. Nat. Acad. Sci. 78: 7015-7018, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6273902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6273902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6273902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.78.11.7015" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="201" class="mim-anchor"></a>
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<a id="Kohne1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kohne, E., Krause, M., Leupold, D., Kleihauer, E.
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<strong>Hemoglobin F Koelliker (alpha-2-minus 141 (HC3) arg-to-gamma-2): a modification of fetal hemoglobin.</strong>
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Hemoglobin 1: 257-266, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/893128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">893128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=893128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267709003408" target="_blank">Full Text</a>]
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</p>
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<a id="Konigsberg1961" class="mim-anchor"></a>
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</p>
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</div>
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<a id="Kraus1965" class="mim-anchor"></a>
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<p class="mim-text-font">
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Kraus, A. P., Miyaji, T., Iuchi, I., Kraus, L. M.
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<strong>Hemoglobin Memphis: a new variety of sickle cell anemia with symptoms due to an alpha-chain variant hemoglobin (alpha23 glu).</strong>
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J. Lab. Clin. Med. 66: 886-887, 1965.
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<a id="204" class="mim-anchor"></a>
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<a id="Kraus1967" class="mim-anchor"></a>
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Kraus, A. P., Miyaji, T., Iuchi, I., Kraus, L. M.
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<strong>Hemoglobin Memphis, a new variant of sickle cell anemia.</strong>
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Trans. Assoc. Am. Phys. 80: 297-304, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6082248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6082248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6082248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="205" class="mim-anchor"></a>
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<a id="Labie1966" class="mim-anchor"></a>
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Labie, D., Rosa, J.
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<strong>Sur une nouvelle hemoglobine anormale: l'hemoglobine J (alpha-54 glutamine a glutamique).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4225368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="206" class="mim-anchor"></a>
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<a id="Labossiere1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Labossiere, A., Vella, F.
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<strong>Hemoglobin I in a white family in Saskatoon.</strong>
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Clin. Biochem. 4: 104-113, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5128292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5128292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5128292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0009-9120(71)90846-0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="207" class="mim-anchor"></a>
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<a id="Lacan2004" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lacan, P., Aubry, M., Couprie, N., Francina, A.
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<strong>Two new alpha chain variants: Hb Die (alpha-93(FG5)val-to-ala (alpha-1)) and Hb Beziers [alpha-99(G6)lys-to-asn (alpha-1)].</strong>
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Hemoglobin 28: 59-63, 2004.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120028888" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="208" class="mim-anchor"></a>
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<a id="Lacan1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lacan, P., Francina, A., Souillet, G., Aubry, M., Couprie, N., Dementhon, L., Becchi, M.
|
|
<strong>Two new alpha chain variants: Hb Boghe (alpha-58(E7)his-to-gln, alpha-2), a variant on the distal histidine, and Hb Charolles (alpha-103(G10)his-to-tyr, alpha-1).</strong>
|
|
Hemoglobin 23: 345-352, 1999.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269909090750" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="209" class="mim-anchor"></a>
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<a id="Lacombe1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lacombe, C., Soria, J., Arous, N., Blouquit, Y., Bardakdjian, J., Riou, J., Galacteros, F.
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<strong>A new case of Hb Dagestan (alpha60(E9) lys-to-glu).</strong>
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Hemoglobin 11: 39-41, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3108202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3108202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3108202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709036580" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="210" class="mim-anchor"></a>
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<a id="Lambridis1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lambridis, A. J., Ramsay, M., Jenkins, T.
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<strong>The haematological puzzle of Hb J Cape Town is partly solved.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3718876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3718876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3718876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1986.tb05561.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="211" class="mim-anchor"></a>
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<a id="Langdown1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Langdown, J. V., Davidson, R. J. L., Williamson, D.
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<strong>A new alpha chain variant, Hb Turriff (alpha-99(G6)lys-to-glu): the interference of abnormal hemoglobins in Hb A(1c) determination.</strong>
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Hemoglobin 16: 11-17, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269209005671" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="212" class="mim-anchor"></a>
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<a id="Leder1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Comparison of cloned mouse alpha- and beta-globin genes: conservation of intervening sequence locations and extragenic homology.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/282635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">282635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=282635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.75.12.6187" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="213" class="mim-anchor"></a>
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<a id="Leder1981" class="mim-anchor"></a>
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<div class="">
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<strong>Dispersion of alpha-like globin genes of the mouse to three different chromosomes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6168916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6168916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6168916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/293196a0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="214" class="mim-anchor"></a>
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<a id="Leder1999" class="mim-anchor"></a>
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Leder, A., Wiener, E., Lee, M. J., Wickramasinghe, S. N., Leder, P.
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<strong>A normal beta-globin allele as a modifier gene ameliorating the severity of alpha-thalassemia in mice.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10339580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10339580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10339580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10339580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.96.11.6291" target="_blank">Full Text</a>]
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<a id="Lee-Potter1981" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lee-Potter, J. P., Deacon-Smith, R. A., Lehmann, H., Robb, L.
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<strong>Haemoglobin Ferndown (alpha6 aspartic acid-to-valine).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7238857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7238857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7238857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(81)81047-2" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Lehmann, H., Carrell, R. W.
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<strong>Variations in the structure of human haemoglobins: with particular reference to the unstable haemoglobins.</strong>
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Brit. Med. Bull. 25: 14-23, 1969.
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[<a href="https://doi.org/10.1093/oxfordjournals.bmb.a070664" target="_blank">Full Text</a>]
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Lehmann, H., Carrell, R. W.
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<strong>Nomenclature of the alpha-thalassaemias.</strong>
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Lancet 323: 552-553, 1984. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6199634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6199634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6199634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(84)90942-5" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Lehmann, H.
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<strong>Haemoglobins and haemoglobinopathies. In: Lehmann, H.; Betke, K.: Haemoglobin-Colloquium.</strong>
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Stuttgart: Georg Thieme Verlag (pub.) 1962. Pp. 1-14.
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<a id="Li1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, H. J., Liu, D. X., Li, L., Cha, S. C., Wilson, J. B., Webber, B. B., Huisman, T. H. J.
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<strong>Hb Guangzhou-Hangzhou or alpha64(E13)asp-to-gly observed in members of a Chinese family living in Xinjiang.</strong>
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Hemoglobin 14: 441-444, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2283298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2283298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2283298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269009032004" target="_blank">Full Text</a>]
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</p>
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<a id="Li1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, H., Zhao, X., Qin, F., Li, H., Li, L., He, X., Chang, X., Li, Z., Liang, K., Xing, F., Chang, W., Wong, R., Yang, I., Li, F., Zhang, T., Tian, R., Webber, B. B., Wilson, J. B., Huisman, T. H. J.
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<strong>Abnormal hemoglobins in the Silk Road region of China.</strong>
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Hum. Genet. 86: 231-235, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2265836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00197711" target="_blank">Full Text</a>]
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</p>
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<a id="Liang1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liang, C., Tao, H., Lo, H., Huang, S., Li, R., Wang, B.
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<strong>Hemoglobin Shuangfeng (alpha27 (B8) glu-to-lys): a new unstable hemoglobin variant.</strong>
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Hemoglobin 5: 691-700, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7338471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108991837" target="_blank">Full Text</a>]
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</p>
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<a id="Liang1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liang, C.-C., Chen, S., Yang, K., Jia, P., Ma, Y., Li, T., Ni, X., Wang, X., Deng, Q., Yao, S.
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<strong>Hemoglobin Beijing (alpha16 (A14) lys-to-asn): a new fast-moving hemoglobin variant.</strong>
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Hemoglobin 6: 629-633, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7161110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7161110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7161110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="Liang1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liang, C.-C., Chen, S.-S., Jia, P.-C., Wang, L.-F., Luo, H.-Y., Liu, G.-Y., Liang, S., Lung, G.-F., Yu, C.-M., Zuang, L.-Z., Liant, B.-L., Tang, Z.-N.
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<strong>Hemoglobin Duan (alpha75(EF4) asp-to-ala), a new variant found in China.</strong>
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Hemoglobin 5: 481-486, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7275664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7275664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7275664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="224" class="mim-anchor"></a>
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<a id="Liang1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y. J., Kutlar, F., Wilson, J. B., Webber, B. B., Hu, H., Huisman, T. H. J.
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<strong>Hb Duan (alpha-75(EF4)asp-to-ala), Hb Westmead (alpha-122(H5)his-to-gln), and alpha-thalassemia-2 (-4.2 kb deletion) in a Chinese family.</strong>
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Hemoglobin 12: 13-21, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3384694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268808996878" target="_blank">Full Text</a>]
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</p>
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<a id="Lie-Injo1979" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lie-Injo, L. E., Dozy, A. M., Kan, Y. W., Lopes, M., Todd, D.
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<strong>The alpha-globin gene adjacent to the gene for Hb Q (alpha 74 asp-to-his) is deleted, but not that adjacent to the gene for Hb G (alpha 30 glu-to-gln); three-fourths of the alpha-globin genes are deleted in Hb Q-alpha-thalassemia.</strong>
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Blood 54: 1407-1416, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=508945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Further cases of haemoglobin Q-H disease (Hb Q-alpha thalassemia).</strong>
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<strong>Haemoglobin O (Buginese X) in Sulawesi.</strong>
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[<a href="https://doi.org/10.1136/bmj.1.5085.1461" target="_blank">Full Text</a>]
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<strong>Human alpha-globin gene expression: the dominant role of the alpha(2)-locus in mRNA and protein synthesis.</strong>
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<strong>Locus assignment of alpha-globin structural mutations by hybrid-selected translation.</strong>
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[<a href="https://doi.org/10.1172/JCI111698" target="_blank">Full Text</a>]
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Liebhaber, S. A., Goossens, M. J., Kan, Y. W.
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<strong>Cloning and complete nucleotide sequence of human 5(prime)-alpha-globin gene.</strong>
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[<a href="https://doi.org/10.1073/pnas.77.12.7054" target="_blank">Full Text</a>]
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<a id="Liebhaber1981" class="mim-anchor"></a>
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Liebhaber, S. A., Goossens, M., Kan, Y. W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7010180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7010180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7010180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/290026a0" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1701260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1701260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1701260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.23.9431" target="_blank">Full Text</a>]
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<a id="233" class="mim-anchor"></a>
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<a id="Liebhaber1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liebhaber, S. A., Rappaport, E. F., Cash, F. E., Ballas, S. K., Schwartz, E., Surrey, S.
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<strong>Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.</strong>
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Science 226: 1449-1451, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6505702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6505702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6505702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.6505702" target="_blank">Full Text</a>]
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</p>
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<a id="234" class="mim-anchor"></a>
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<a id="Liu1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, G.-Y., Zhang, G.-X., Nie, S.-Y., Luo, H.-Y., Teng, Y.-Q., Liu, S.-P., Song, M., Son, L., Chen, S.-S., Jia, P.-C., Liang, C.-C.
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<strong>A case of hemoglobin Iwate (alpha87(F8)his-to-arg) in China.</strong>
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Hemoglobin 7: 279-282, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6874376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6874376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6874376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="235" class="mim-anchor"></a>
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<a id="Lorkin1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lorkin, P. A., Charlesworth, D., Lehmann, H., Rahbar, S., Tuchinda, S., Lie-Injo, L. E.
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<strong>Two haemoglobins Q, alpha 74 (EF3) and alpha 75 (EF4) aspartic acid to histidine.</strong>
|
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Brit. J. Haemat. 19: 117-125, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5460202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5460202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5460202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1970.tb01607.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="236" class="mim-anchor"></a>
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<a id="Lorkin1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lorkin, P. A., Huntsman, R. G., Ager, J. A. M., Lehmann, H., Vella, F., Dakbre, P. D.
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<strong>Hemoglobin G (Norfolk): alpha 85 (F6) asp-to-asn.</strong>
|
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Biochim. Biophys. Acta 379: 22-27, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1115797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1115797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1115797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(75)90004-5" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="237" class="mim-anchor"></a>
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<a id="Lu1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lu, Y.-Q., Liu, J.-F., Huang, C.-H., Huang, P.-Y., Hu, H.-L., Peng, X.-H., Chen, S.-S., Jia, P.-C., Yang, K.-G., Liang, C.-C., Zuo, C.-R.
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|
<strong>Hemoglobin Lille (alpha74 (EF3) asp-to-ala): the first instance in China.</strong>
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|
Hemoglobin 8: 523-527, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6500991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6500991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6500991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="238" class="mim-anchor"></a>
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<a id="Maggio1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maggio, A., Massa, A., Giampaolo, A., Mavilio, F., Tentori, L.
|
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<strong>Occurrence of Hb M Iwate (alpha 87 his-to-tyr) in an Italian carrier.</strong>
|
|
Hemoglobin 5: 205-208, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7216821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7216821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7216821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108996927" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="239" class="mim-anchor"></a>
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<a id="Malcorra-Azpiazu1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Malcorra-Azpiazu, J. J., Balda-Aguirre, M. I., Diaz-Chico, J. C., Kutlar, F., Kutlar, A., Wilson, J. B., Hu, H., Huisman, T. H. J.
|
|
<strong>Hb Le Lamentin or alpha20 (B1) his-to-gln found in a Spanish family.</strong>
|
|
Hemoglobin 12: 201-205, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3384713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268808998028" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="240" class="mim-anchor"></a>
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<a id="Mamalaki1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mamalaki, A., Horanyi, M., Szelenyi, J., Moschonas, N. K.
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<strong>Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha-1 and alpha-2-globin cDNAs.</strong>
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Hum. Genet. 85: 509-512, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2227935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2227935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2227935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00194226" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="241" class="mim-anchor"></a>
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<a id="Marengo-Rowe1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marengo-Rowe, A. J., Beale, D., Lehmann, H.
|
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<strong>New human hemoglobin variant from southern Arabia: G-Audhali (alpha-23(b4) glutamic acid-valine) and the variability of B4 in human haemoglobin.</strong>
|
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Nature 219: 1164-1166, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5675638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5675638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5675638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/2191164b0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="242" class="mim-anchor"></a>
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<a id="Marinucci1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marinucci, M., Mavilio, F., Massa, A., Gabbianelli, M., Fontanarosa, P. P., Camagna, A., Ignesti, C., Tentori, L.
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<strong>A new abnormal human hemoglobin: Hb Prato (alpha31 arg-to-ser).</strong>
|
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Biochim. Biophys. Acta 578: 534-540, 1979.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/486536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">486536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=486536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(79)90184-3" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="243" class="mim-anchor"></a>
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<a id="Marinucci1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marinucci, M., Mavilio, F., Tentori, L., Bestetti, A.
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<strong>Occurrence of Hb J Paris in an Italian family and recombination studies on the free abnormal alpha-chain.</strong>
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Hemoglobin 3: 465-469, 1979.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/511586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">511586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=511586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267909002283" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="244" class="mim-anchor"></a>
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<a id="Marinucci1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marinucci, M., Mavilio, F., Tentori, L., D'Erasmo, F., Colapietro, A., De Stasio, G., Di Fonzo, S.
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<strong>A new human hemoglobin variant: Hb Bari (alpha 45(CD3) his-to-gln).</strong>
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Biochim. Biophys. Acta 622: 315-319, 1980.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7378457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7378457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7378457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(80)90042-2" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="245" class="mim-anchor"></a>
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<a id="Marti1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marti, H. R., Beale, D., Lehmann, H.
|
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<strong>Haemoglobin Koelliker: a new acquired haemoglobin appearing after severe haemolysis: alpha-2 (minus 141 arg) beta-2.</strong>
|
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Acta Haemat. 37: 174-180, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4961849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4961849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4961849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000209067" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="246" class="mim-anchor"></a>
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<a id="Martin1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Martin, G., Villegas, A., Calero, F., del Palacio, S., Lopez, J. C., Lopez, M., Espinos, D.
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<strong>Hb O Padova in a Spanish family.</strong>
|
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Acta Haemat. 84: 1-4, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2117321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2117321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2117321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000205018" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="247" class="mim-anchor"></a>
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<a id="Martinez1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martinez, G., Lima, F., Residenti, C., Colombo, B.
|
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<strong>Hb J Camaguey alpha 141 (HC3) arg-to-gly: a new abnormal human hemoglobin.</strong>
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Hemoglobin 2: 47-52, 1978.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=640841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267808999187" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="248" class="mim-anchor"></a>
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<a id="Masala1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Masala, B., Manca, L., Stangoni, A., Cuccuru, G. B., Wilson, J. B., Webber, B. B., Kutlar, A., Huisman, T. H. J.
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<strong>Hb Sassari or alpha126 (H9) asp-to-his observed in a family from northern Sardinia.</strong>
|
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Hemoglobin 11: 373-378, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3667323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3667323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3667323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709042855" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="249" class="mim-anchor"></a>
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<a id="Masala1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Masala, B.
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<strong>Hemoglobinopathies in Sardinia.</strong>
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Hemoglobin 16: 331-351, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1517114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1517114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1517114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269208998879" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="250" class="mim-anchor"></a>
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<a id="Mavilio1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mavilio, F., Marinucci, M., Tentori, L., Fontanarosa, P. P., Rossi, U., Biagiotti, S.
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<strong>Hemoglobin Legnano (alpha 141 (HC3) arg-to-leu): a new abnormal human hemoglobin with high oxygen affinity.</strong>
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Hemoglobin 2: 249-259, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/701083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">701083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=701083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267809007070" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="251" class="mim-anchor"></a>
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<a id="Mayne1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mayne, E. E., Elder, G. E., Lappin, T. R. J., Ferguson, L. A. K.
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<strong>Hb M Iwate (alpha87 his-to-tyr): de novo mutation in an Irish family.</strong>
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Hemoglobin 10: 205-208, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3957697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3957697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3957697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268609046445" target="_blank">Full Text</a>]
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</p>
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<a id="252" class="mim-anchor"></a>
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<a id="McDonald1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McDonald, M. J., Michalski, L. A., Turci, S. M., Guillette, R. A., Jue, D. L., Johnson, M. H., Moo-Penn, W. F.
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<strong>Structural, functional, and subunit assembly properties of Hb Attleboro [alpha138(H21)ser-to-pro], a variant possessing a site mutation at a critical C-terminal residue.</strong>
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Biochemistry 29: 173-178, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2108715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2108715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2108715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1021/bi00453a023" target="_blank">Full Text</a>]
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</p>
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<a id="Meloni1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Meloni, T., Pilo, G., Camardella, L., Cancedda, F., Lania, A., Pepe, G., Luzzatto, L.
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<strong>Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population).</strong>
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Blood 55: 1025-1032, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6155159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6155159</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6155159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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Meyering, C. A., Israels, A. L., Sebens, T., Huisman, T. H. J.
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<strong>Studies on the heterogeneity of hemoglobin. II. The heterogeneity of different human hemoglobin types in carboxymethyl cellulose and in amberlite irc-50 chromatography: quantitative aspects.</strong>
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<a id="Miyaji1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyaji, T., Iuchi, I., Yamamoto, K., Ohba, Y., Shibata, S.
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<strong>Amino acid substitution of hemoglobin Ube 2 (alpha 68 asp): an example of successful application of partial hydrolysis of peptide with 5 percent acetic acid.</strong>
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Clin. Chim. Acta 16: 347-352, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6035181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6035181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6035181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0009-8981(67)90298-7" target="_blank">Full Text</a>]
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</p>
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<a id="Miyaji1962" class="mim-anchor"></a>
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<p class="mim-text-font">
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Miyaji, T., Ueda, S., Shibata, S., Tamura, A., Sasaki, H.
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<strong>Further studies on the fingerprint of Hb M (Iwate).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14474785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14474785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14474785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="Miyashita1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyashita, H., Hashimoto, K., Mohri, H., Ohokubo, T., Harano, T., Harano, K., Imai, K.
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<strong>Hb Kanagawa (alpha-40(C5)lys-to-met): a new alpha chain variant with an increased oxygen affinity.</strong>
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Hemoglobin 16: 1-10, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269209005670" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="Moi1987" class="mim-anchor"></a>
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<div class="">
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Moi, P., Cash, F. E., Liebhaber, S. A., Cao, A., Pirastu, M.
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<strong>An initiation codon mutation (AUG-to-GUG) of the human alpha-1-globin gene: structural characterization and evidence for a mild thalassemic phenotype.</strong>
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J. Clin. Invest. 80: 1416-1421, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3680504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113220" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="259" class="mim-anchor"></a>
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<a id="Moo-Penn1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Baine, R. M., Jue, D. L., Johnson, M. H., McGuffey, J. E., Benson, J. M.
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<strong>Hemoglobin Evanston: alpha14(A12) trp-to-arg--a variant hemoglobin associated with alpha-thalassemia-2.</strong>
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Biochim. Biophys. Acta 747: 65-70, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6882779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6882779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6882779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(83)90122-x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="260" class="mim-anchor"></a>
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<a id="Moo-Penn1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Bechtel, K. C., Johnson, M. H., Jue, D. L., Holland, S., Huff, C., Schmidt, R. M.
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<strong>Hemoglobin (Jackson) alpha 127 (H10) lys-to-asn.</strong>
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Am. J. Clin. Path. 66: 453-456, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=949045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/ajcp/66.2.453" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="261" class="mim-anchor"></a>
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<a id="Moo-Penn1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Jue, D. L., Baine, R. M.
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<strong>Hemoglobin J Rovigo (alpha 53 ala-to-asp) in association with beta thalassemia.</strong>
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Hemoglobin 2: 443-445, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267809007078" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="262" class="mim-anchor"></a>
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<a id="Moo-Penn1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Jue, D. L., Johnson, M. H., McGuffey, J. E., Simpkins, H., Katz, J.
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<strong>Hemoglobin Queens: alpha34(B15) leu-to-arg structural and functional properties and its association with Hb E.</strong>
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Am. J. Hemat. 13: 323-327, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7158628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajh.2830130408" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="263" class="mim-anchor"></a>
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<a id="Moo-Penn1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Jue, D. L., Johnson, M. H., Therrell, B. L.
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<strong>Hemoglobin Swan River (alpha6(A4)asp-to-gly).</strong>
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Hemoglobin 11: 61-62, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3583768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3583768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3583768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709036585" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="264" class="mim-anchor"></a>
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<a id="Moo-Penn1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Swan, D. C., Hine, T. K., Baine, R. M., Jue, D. L., Benson, J. M., Johnson, M. H., Virshup, D. M., Zinkham, W. H.
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<strong>Hb Catonsville (glutamic acid inserted between pro-37 (C2) alpha and thr-38 (C3) alpha).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2574721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="265" class="mim-anchor"></a>
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<a id="Moo-Penn1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moo-Penn, W. F., Therrell, B. L., Jr., Jue, D. L., Johnson, M. H.
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<strong>Hemoglobin Cubujuqui (alpha141 arg-to-ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin.</strong>
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Hemoglobin 5: 715-724, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7338473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108991839" target="_blank">Full Text</a>]
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<strong>Chemical difference between normal human haemoglobin and haemoglobin-I.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/745216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">745216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=745216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.15.6.448" target="_blank">Full Text</a>]
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<a id="Nakashima1990" class="mim-anchor"></a>
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<strong>Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1970975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1970975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1970975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00210811" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="269" class="mim-anchor"></a>
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<a id="Nakatsuji1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakatsuji, T., Abraham, B. L., Lam, H., Wilson, J. B., Huisman, T. H. J.
|
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<strong>Hb Winnipeg or alpha75 (EF4) asp-to-tyr in a large Caucasian family living in Georgia, USA.</strong>
|
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Hemoglobin 7: 105-110, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6841125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6841125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6841125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268309038407" target="_blank">Full Text</a>]
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</p>
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<a id="270" class="mim-anchor"></a>
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<a id="Nakatsuji1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakatsuji, T., Miwa, S., Ohba, Y., Miyaji, T., Matsumoto, N., Matsuoka, I.
|
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<strong>Hemoglobin Tottori (alpha59 (E8) glycine-to-valine): a new unstable hemoglobin.</strong>
|
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Hemoglobin 5: 427-439, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7275660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7275660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7275660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108991818" target="_blank">Full Text</a>]
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</p>
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<a id="271" class="mim-anchor"></a>
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<a id="Nakatsuji1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakatsuji, T., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Cordele alpha47 (CE5) asp-to-ala, a mildly unstable variant observed in black twins.</strong>
|
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Hemoglobin 8: 37-46, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6547117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6547117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6547117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268408996959" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="272" class="mim-anchor"></a>
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<a id="Ngiwsara2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ngiwsara, L., Srisomsap, C., Winichagoon, P., Fucharoen, S., Svasti, J.
|
|
<strong>Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)glu-to-asp (alpha-1)] and alpha-thalassemia in Thailand.</strong>
|
|
Hemoglobin 28: 145-150, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120035913" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="273" class="mim-anchor"></a>
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<a id="Niazi1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Niazi, G. A., Efremov, G. D., Nikolov, N., Hunter, E., Jr., Huisman, T. H. J.
|
|
<strong>Hemoglobin Strumica or alpha 112(G19) his-to-arg. (with an addendum: hemoglobin J-Paris-I, alpha 12(A10) ala-to-asp, in the same population).</strong>
|
|
Biochim. Biophys. Acta 412: 181-186, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1191675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1191675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1191675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(75)90350-5" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="274" class="mim-anchor"></a>
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<a id="North1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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North, M. L., Hassan, W., Thillet, J., Schwartz, M., Taubert, C., Ritter, J., Gandar, R., Rosa, J.
|
|
<strong>Etude clinique et biologique d'un cas d'hemoglobine hybride S-Stanleyville II (alpha 78 asn-to-lys, beta 6 glu-to-val).</strong>
|
|
Nouv. Rev. Franc. Hemat. 22: 235-241, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6782549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="275" class="mim-anchor"></a>
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<a id="Nozari1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Nozari, G., Rahbar, S., Darbre, P., Lehmann, H.
|
|
<strong>Hemoglobin Setif (alpha 94 (G1) asp-to-tyr) in Iran--a report of 9 cases.</strong>
|
|
Hemoglobin 1: 289-291, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/893131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">893131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=893131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267709003412" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="276" class="mim-anchor"></a>
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<a id="O'Brien1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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O'Brien, C., Gray, M. J., Jacobs, A. S.
|
|
<strong>A survey of cord bloods for abnormal hemoglobin, with further observations on hemoglobin I (Burlington).</strong>
|
|
Am. J. Obstet. Gynec. 88: 816-822, 1964.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14130347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14130347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14130347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9378(64)90617-9" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="277" class="mim-anchor"></a>
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<a id="Ohba1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ohba, Y., Fujisawa, K., Imai, K., Leowattana, W., Tani, Y., Ami, M., Miyaji, T.
|
|
<strong>A new alpha chain variant Hb Tonosho [alpha110(G17)ala-to-thr]: subunit dissociation during cation exchange chromatography for Hb A1c assay.</strong>
|
|
Hemoglobin 14: 413-422, 1990.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2283295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2283295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2283295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269009032001" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="278" class="mim-anchor"></a>
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<a id="Ohba1982" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Ohba, Y., Hattori, Y., Matsuoka, M., Miyaji, T., Fuyuno, K.
|
|
<strong>Hb Kokura (alpha 47 (CE5) asp-to-gly): a slightly unstable variant.</strong>
|
|
Hemoglobin 6: 69-74, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7068437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7068437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7068437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268208996936" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="279" class="mim-anchor"></a>
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<a id="Ohba1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ohba, Y., Imai, K., Uenaka, R., Ami, M., Fujisawa, K., Itoh, K., Hirakawa, K., Miyaji, T.
|
|
<strong>Hb Miyano or alpha41(C6)thr-to-ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor.</strong>
|
|
Hemoglobin 13: 637-647, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2634665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2634665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2634665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268908998841" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="280" class="mim-anchor"></a>
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<a id="Ohba1978" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Ohba, Y., Miyaji, T., Matsuoka, M., Morito, M., Iuchi, I.
|
|
<strong>Characterization of Hb Ube-4: alpha 116 (GH4) glu-to-ala.</strong>
|
|
Hemoglobin 2: 181-186, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/640856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">640856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=640856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267809074785" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="281" class="mim-anchor"></a>
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<a id="Ohba1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Ohba, Y., Miyaji, T., Matsuoka, M., Takeda, I., Fukuba, Y., Shibata, S., Ohkura, K.
|
|
<strong>Hemoglobin Matsue-Oki: alpha 75 (EF4) aspartic acid-to-asparagine.</strong>
|
|
Hemoglobin 1: 383-388, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/893135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">893135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=893135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267708996896" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="282" class="mim-anchor"></a>
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<a id="Ohba1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ohba, Y., Miyaji, T., Matsuoka, M., Yokoyama, M., Numakura, H., Nagata, K., Takebe, Y., Izumi, Y., Shibata, S.
|
|
<strong>Hemoglobin Hirosaki (alpha 43(CE1) phe-to-leu), a new unstable variant.</strong>
|
|
Biochim. Biophys. Acta 405: 155-160, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1182166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1182166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1182166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(75)90325-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="283" class="mim-anchor"></a>
|
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<a id="Ohba1978" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Ohba, Y., Miyaji, T., Matsuoka, M., Yokoyama, M.
|
|
<strong>Further studies on hemoglobin Hirosaki: demonstration of its presence at low concentration.</strong>
|
|
Hemoglobin 2: 281-286, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/701086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">701086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=701086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267809007073" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="284" class="mim-anchor"></a>
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<a id="Ohba1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ohba, Y., Yamamoto, K., Kawata, R., Miyaji, T.
|
|
<strong>Hyperunstable hemoglobin Toyama, alpha136 (H19) leu to arg detection and identification by in vitro biosynthesis with radioactive amino acids.</strong>
|
|
Hemoglobin 11: 539-556, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2833478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2833478</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2833478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709027870" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="285" class="mim-anchor"></a>
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<a id="Ohba1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ohba, Y., Yoshinaka, H., Hattori, Y., Matsuoka, M., Miyaji, T.
|
|
<strong>Hemoglobin J Habana found in a cord blood of a Japanese.</strong>
|
|
Hemoglobin 7: 327-329, 1983.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6618889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6618889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6618889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268309052714" target="_blank">Full Text</a>]
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</p>
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[<a href="https://doi.org/10.3109/03630268508997004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.75.12.5950" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-5793(76)80133-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/newbio237090a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630269809071518" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/2101182a0" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7852094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7852094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7852094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269408996205" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630267709003907" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1139/o70-168" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1174563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1174563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1174563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(75)90326-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.78.10.6362" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-5793(76)80663-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1970.tb01606.x" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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<strong>Hb Roubaix (alpha-55(E4)val-to-leu): a new neutral hemoglobin variant involving the alpha-1 gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269909090752" target="_blank">Full Text</a>]
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<div class="">
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<strong>Hb Douala [alpha-3(A1)ser-phe]: a new alpha-1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.</strong>
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Hemoglobin 25: 323-329, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11570726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-100105226" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(80)90491-2" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4521212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4521212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4521212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.70.12.3870" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537231</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269509005814" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1259994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1259994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1259994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(76)90290-7" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4982774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4982774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4982774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000208776" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1138883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1138883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1138883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(75)90295-0" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4518991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4518991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4518991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/newbio245268a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/194743a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.1.5030.1285" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00220551" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(85)91967-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630267809005347" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(77)90133-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000208712" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000207065" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630269108998862" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jcp.50.5.434" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/jama.202.5.419" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(71)90072-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630268209083760" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng.496" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/978-3-7091-7139-4_4" target="_blank">Full Text</a>]
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</div>
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<li>
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<a id="339" class="mim-anchor"></a>
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<a id="Schroeder1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schroeder, W. A., Shelton, J. B., Shelton, J. R., Powars, D.
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<strong>Hemoglobin Sunshine Seth (alpha94 asp-to-his).</strong>
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Hemoglobin 3: 145-159, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/478976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">478976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=478976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630267908998910" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="340" class="mim-anchor"></a>
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<a id="Schwartz1957" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schwartz, I. R., Atwater, J., Repplinger, E., Tocantins, L. M.
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<strong>Sickling of erythrocytes with I-A electrophoretic haemoglobin pattern.</strong>
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Fed. Proc. 16: 115, 1957.
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</p>
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<a id="341" class="mim-anchor"></a>
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<a id="Sciarratta1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sciarratta, G. V., Ivaldi, G., Molaro, G. L., Sansone, G., Salkie, M. L., Wilson, J. B., Reese, A. L., Huisman, T. H. J.
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<strong>The characterization of hemoglobin Manitoba or alpha(2)102(G9)ser-to-arg and hemoglobin Contaldo or alpha(2)103(G10)his-to-arg by high performance liquid chromatography.</strong>
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Hemoglobin 8: 169-181, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6547932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6547932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6547932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268408991710" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="342" class="mim-anchor"></a>
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<a id="Scott1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scott, A. F., Phillips, J. A., III, Young, K. E., Kazazian, H. H., Jr., Smith, K. D., Charache, S., Clegg, J. B.
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<strong>The molecular basis of hemoglobin Grady.</strong>
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Am. J. Hum. Genet. 33: 129-133, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6258429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6258429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6258429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<a id="Sellaye1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sellaye, M., Blouquit, Y., Galacteros, F., Arous, N., Monplaisir, N., Rhoda, M. D., Braconnier, F., Rosa, J.
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<strong>A new silent hemoglobin variant in a black family from French West Indies: hemoglobin Le Lamentin alpha20 his-to-gln.</strong>
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FEBS Lett. 145: 128-130, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7128817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7128817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7128817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(82)81220-9" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="Shelton1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shelton, J. B., Shelton, J. R., Schroeder, W. A., Powars, D. R.
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<strong>Hb Aztec or alpha76(EF5) met-to-thr: detection of a silent mutant by high performance liquid chromatography.</strong>
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Hemoglobin 9: 325-332, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3935608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3935608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3935608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508997008" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="Shibata1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shibata, S., Iuchi, I., Miyaji, T., Ueda, S.
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<strong>Spectroscopic characterization of hemoglobin M (Iwate) and hemoglobin M (Kurume), the two variants of hemoglobin M found in Japan.</strong>
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Acta Haemat. Jpn. 24: 477-485 and 486-494, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13911805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13911805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13911805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="346" class="mim-anchor"></a>
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<a id="Shibata1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shibata, S., Miyaji, T., Ohba, Y.
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<strong>Abnormal hemoglobins in Japan.</strong>
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Hemoglobin 4: 395-408, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6998928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6998928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6998928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268008996220" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="347" class="mim-anchor"></a>
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<a id="Shibata1960" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shibata, S., Tamura, A., Iuchi, I., Takahashi, H.
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<strong>Hemoglobin M-1. Demonstration of a new abnormal hemoglobin in hereditary nigremia.</strong>
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Acta Haemat. Jpn. 23: 96-104, 1960.
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</p>
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</div>
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<li>
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<a id="348" class="mim-anchor"></a>
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<a id="Shibata1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shibata, S., Ueda, S., Miyaji, T., Imamura, T.
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<strong>Hemoglobinopathies in Japan.</strong>
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Hemoglobin 5: 509-515, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7275668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7275668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7275668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108991829" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="349" class="mim-anchor"></a>
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<a id="Shibata1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shibata, S.
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<strong>Hereditary nigremia (geneticobiochemical aspects).</strong>
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Jpn. J. Hum. Genet. 9: 193-206, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5896606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5896606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5896606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="350" class="mim-anchor"></a>
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<a id="Shimasaki1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimasaki, S., Iuchi, I., Hidaka, K., Mizuta, W.
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<strong>The survey of abnormal hemoglobin in Kobe district.</strong>
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Jpn. J. Hum. Genet. 28: 127-128, 1983.
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</p>
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<a id="Shimasaki1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimasaki, S.
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<strong>A new hemoglobin variant, hemoglobin Nunobiki (alpha141 (HC3) arg-to-cys): notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.</strong>
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J. Clin. Invest. 75: 695-701, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3973024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3973024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3973024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI111749" target="_blank">Full Text</a>]
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</p>
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<a id="352" class="mim-anchor"></a>
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<a id="Shimizu1965" class="mim-anchor"></a>
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<div class="">
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Shimizu, A., Hayashi, A., Yamamura, Y., Tsugita, A., Kitayama, K.
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<strong>The structural study on a new hemoglobin variant, Hb M (Osaka).</strong>
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Biochim. Biophys. Acta 97: 472-482, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14323593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14323593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14323593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0304-4165(65)90159-5" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="353" class="mim-anchor"></a>
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<a id="Shimizu1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimizu, A., Tsugita, A., Hayashi, A., Yamamura, Y.
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<strong>The primary structure of hemoglobin M (Iwate).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5880555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5880555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5880555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0304-4165(65)90134-0" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="354" class="mim-anchor"></a>
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<a id="Shin2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shin, M.-C., Chen, C.-M., Liu, S.-C., Huang, C.-H., Lee, T.-P., Chan, W.-L., Chang, J.-G.
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<strong>Hb UBE-2 in a Taiwanese subject: an A-to-G substitution at codon 68 of the alpha-2-globin gene.</strong>
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Hemoglobin 26: 99-101, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11939522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11939522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11939522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120002949" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="355" class="mim-anchor"></a>
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<a id="Silvestroni1963" class="mim-anchor"></a>
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<div class="">
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<strong>Haemoglobins N and P in Italian families.</strong>
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Nature 200: 658-659, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14109943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14109943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14109943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/200658a0" target="_blank">Full Text</a>]
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<a id="356" class="mim-anchor"></a>
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<a id="Simmers1987" class="mim-anchor"></a>
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<div class="">
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<strong>Mapping the human alpha globin gene complex to 16p13.2-pter.</strong>
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[<a href="https://doi.org/10.1136/jmg.24.12.761" target="_blank">Full Text</a>]
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<li>
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<a id="357" class="mim-anchor"></a>
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<a id="Smith1958" class="mim-anchor"></a>
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<p class="mim-text-font">
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<strong>Study of two abnormal hemoglobins with evidence for a new genetic locus for hemoglobin formation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13500096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13500096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13500096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="358" class="mim-anchor"></a>
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<a id="Southern1975" class="mim-anchor"></a>
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<div class="">
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<strong>Detection of specific sequences among DNA fragments separated by gel electrophoresis.</strong>
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J. Molec. Biol. 98: 503-517, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1195397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1195397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1195397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-2836(75)80083-0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="359" class="mim-anchor"></a>
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<a id="Spivak1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spivak, V. A., Molchanova, T. P., Ermakov, N. V., Tokarev, Y. N., Martinez, G., Szelenyi, J., Horanyi, M., Foldi, J., Hollan, S., Kazieva, H., Shamov, I. A.
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<strong>A new hemoglobin variant: Hb Dagestan alpha60(E9) lys-to-glu.</strong>
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Hemoglobin 5: 133-138, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6783600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6783600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6783600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108996919" target="_blank">Full Text</a>]
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</p>
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<a id="360" class="mim-anchor"></a>
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<a id="Straub2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Straub, A. C., Lohman, A. W., Billaud, M., Johnstone, S. R., Dwyer, S. T., Lee, M. Y., Bortz, P. S., Best, A. K., Columbus, L., Gaston, B., Isakson, B. E.
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<strong>Endothelial cell expression of haemoglobin alpha regulates nitric oxide signalling.</strong>
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Nature 491: 473-477, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23123858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23123858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23123858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23123858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature11626" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="361" class="mim-anchor"></a>
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<a id="Suarez1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suarez, C. R., Jue, D. L., Moo-Penn, W. F.
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<strong>Hemoglobin Savaria--alpha49(CE7)ser-to-arg in the United States.</strong>
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Hemoglobin 9: 627-629, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3937825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3937825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3937825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268508997045" target="_blank">Full Text</a>]
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</p>
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<a id="Sugihara1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugihara, J., Imamura, T., Kagimoto, M., Matsuo, T., Yamada, H., Imoto, T., Yanase, T.
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<strong>A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain.</strong>
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Biochim. Biophys. Acta 744: 119-120, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6403040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(83)90349-7" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="363" class="mim-anchor"></a>
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<a id="Sugihara1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugihara, J., Imamura, T., Yamada, H., Imoto, T., Matsuo, T., Sumida, I., Yanase, T.
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<strong>A new electrophoretic variant of hemoglobin (Ogi) in which a leucine residue is replaced by an arginine residue at position 34 of the alpha-chain.</strong>
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Biochim. Biophys. Acta 701: 45-48, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7055587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7055587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7055587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(82)90310-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="364" class="mim-anchor"></a>
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<a id="Sukumaran1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sukumaran, P. K., Merchant, S. M., Desai, M. P., Wiltshire, B. G., Lehmann, H.
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<strong>Haemoglobin Q India (alpha-64 (E13) aspartic acid to histidine). Associated with beta-thalassemia observed in three Sindhi families.</strong>
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J. Med. Genet. 9: 436-442, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4646552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4646552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4646552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.9.4.436" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="365" class="mim-anchor"></a>
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<a id="Sukumaran1965" class="mim-anchor"></a>
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<p class="mim-text-font">
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Sukumaran, P. K., Pik, C.
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<strong>Some observations on haemoglobin L(Bombay).</strong>
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Biochim. Biophys. Acta 104: 290-292, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5840408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5840408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5840408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0304-4165(65)90249-7" target="_blank">Full Text</a>]
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</p>
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<a id="366" class="mim-anchor"></a>
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<strong>Hemoglobin Sawara: alpha 6 (A4) aspartic acid leads to alanine.</strong>
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Biochim. Biophys. Acta 322: 23-26, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4744335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4744335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4744335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(73)90169-4" target="_blank">Full Text</a>]
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</p>
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<a id="367" class="mim-anchor"></a>
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<strong>Studies of abnormal hemoglobins in western Japan: frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha26ala-beta2) and hemoglobin Mugino (Hb L Ferrara; alpha247gly-beta2).</strong>
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Jpn. J. Hum. Genet. 19: 343-363, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1241593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1241593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1241593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="368" class="mim-anchor"></a>
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<a id="Suzuki1965" class="mim-anchor"></a>
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<strong>Functional abnormality of hemoglobin M (Osaka).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5840695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5840695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5840695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0006-291x(65)90312-8" target="_blank">Full Text</a>]
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</p>
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<a id="Szelenyi1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Szelenyi, J. G., Horanyi, M., Foldi, J., Hudacsek, J., Istvan, L., Hollan, S. R.
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<strong>A new hemoglobin variant in Hungary: Hb Savaria-alpha 49 (CE7) ser-to-arg.</strong>
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Hemoglobin 4: 27-38, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7353957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7353957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7353957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268009042371" target="_blank">Full Text</a>]
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</p>
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<a id="370" class="mim-anchor"></a>
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<a id="Tamura1964" class="mim-anchor"></a>
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<strong>Black blood disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5896605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5896605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5896605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<strong>Hemoglobin Pontoise: alpha 63 ala-to-asp (E12): a new fast moving variant.</strong>
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Biochim. Biophys. Acta 491: 16-22, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=849454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(77)90036-8" target="_blank">Full Text</a>]
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</p>
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<a id="372" class="mim-anchor"></a>
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<a id="Thompson1965" class="mim-anchor"></a>
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Thompson, R. B., Rau, P. J., Odom, J., Bell, W. N.
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<strong>The sickling phenomenon in a white male without Hb-S.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4956511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4956511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4956511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000209459" target="_blank">Full Text</a>]
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<strong>Untersuchung einer grossen Haemoglobin-M-Sippe. Entdeckung eines neuen Blutfarbstoffes: Hb M-Oldenburg.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13985279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13985279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13985279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="">
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<strong>Mapping the alpha-globin genes in Hb J Mexico carriers.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6298095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6298095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6298095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00282308" target="_blank">Full Text</a>]
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<a id="Traeger-Synodinos1999" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269909090747" target="_blank">Full Text</a>]
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<a id="376" class="mim-anchor"></a>
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<a id="Trincao1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trincao, C., de Melo, J. M., Lorkin, P. A., Lehmann, H.
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<strong>Haemoglobin J Paris in the south of Portugal (Algarve).</strong>
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Acta Haemat. 39: 291-298, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4971935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4971935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4971935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000208973" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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<strong>Hb Siam (alpha-15(A13)gly-to-arg(alpha-1) (GGT-to-CGT)) is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11939517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11939517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11939517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-120002944" target="_blank">Full Text</a>]
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<a id="Van Ros1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Ros, G., Beale, D., Lehmann, H.
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<strong>Hemoglobin Stanleyville-II (alpha 78 asparagine to lysine).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5696551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5696551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5696551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.4.5623.92" target="_blank">Full Text</a>]
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</p>
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<a id="Vandenplas1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Characterization of a new alpha(0) thalassemia defect in the South African population.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3663510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3663510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3663510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1987.tb01341.x" target="_blank">Full Text</a>]
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<a id="Vasseur1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Hemoglobin Thionville: an alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH(2) terminus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1618774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Vasseur, C., Guillemin, C., Galacteros, F., Wajcman, H.
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<strong>Hemoglobin Thionville: an alpha chain variant with substitution of a glutamic residue for valine NA-1 and having an extended N-terminus. (Abstract)</strong>
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<a id="Vella1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Haemoglobin Ottawa: alpha 15 gly-to-arg.</strong>
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<a id="383" class="mim-anchor"></a>
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<a id="Vella1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vella, F., Charlesworth, D., Lorkin, P. A., Lehmann, H.
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<strong>Hemoglobin Broussais: alpha 90 lys replaced by asn.</strong>
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Canad. J. Biochem. 48: 908-910, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5452727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5452727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5452727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</div>
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<a id="384" class="mim-anchor"></a>
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<a id="Vella1974" class="mim-anchor"></a>
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<div class="">
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Vella, F., Galbraith, P., Wilson, J. B., Wong, S. C., Folger, G. C., Huisman, T. H. J.
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<strong>Hemoglobin St. Claude or alpha 127 (H10) lys-to-thr.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4429670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4429670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4429670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(74)90003-8" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="385" class="mim-anchor"></a>
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<a id="Vella1958" class="mim-anchor"></a>
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<p class="mim-text-font">
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Vella, F., Wells, R. H. C., Ager, J. A. M., Lehmann, H.
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<strong>A haemoglobinopathy involving haemoglobin H and a new (Q) haemoglobin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13510789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13510789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13510789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.1.5073.752" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="386" class="mim-anchor"></a>
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<a id="Vella1973" class="mim-anchor"></a>
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<p class="mim-text-font">
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Vella, F., Wiltshire, B., Lehmann, H., Galbraith, P.
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<strong>Hemoglobin Winnipeg.</strong>
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Clin. Biochem. 6: 66-70, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4728965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4728965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4728965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0009-9120(73)80014-1" target="_blank">Full Text</a>]
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<a id="387" class="mim-anchor"></a>
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<a id="Vettore1974" class="mim-anchor"></a>
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Vettore, L., De Sandre, G., Di Iorio, E. E., Winterhalter, K. H., Lang, A., Lehmann, H.
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<strong>A new abnormal hemoglobin O Padova, alpha 30 (B11) glu-to-lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4429803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4429803</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4429803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Hemoglobin Catonsville: an unstable, high affinity variant with an insertion of glutamic acid between residues 37(pro) and 38 (thr) in the alpha chain. (Abstract)</strong>
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<a id="389" class="mim-anchor"></a>
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<a id="Wainscoat1983" class="mim-anchor"></a>
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<div class="">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6316779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6316779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6316779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="390" class="mim-anchor"></a>
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<a id="Wainscoat1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6114338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6114338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6114338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(81)90542-0" target="_blank">Full Text</a>]
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<a id="391" class="mim-anchor"></a>
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<a id="Wajcman1972" class="mim-anchor"></a>
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<p class="mim-text-font">
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<strong>Hb Setif: G1 (94) alpha--asp-to-tyr. A new chain hemoglobin variant with substitution of the residue involved in a hydrogen bond between unlike subunits.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4667378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4667378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4667378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(72)80645-8" target="_blank">Full Text</a>]
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<a id="392" class="mim-anchor"></a>
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<a id="Wajcman1989" class="mim-anchor"></a>
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<div class="">
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Wajcman, H., Blouquit, Y., Gombaud-Saintonge, G., Riou, J., Galacteros, F.
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<strong>HB Fontainebleau (alpha21(B2)ala-to-pro), a new silent mutant hemoglobin.</strong>
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Hemoglobin 13: 421-429, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2599878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2599878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2599878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268908998081" target="_blank">Full Text</a>]
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<a id="Wajcman1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Three new neutral alpha chain variants: Hb Bois Guillaume (alpha-65(E14)ala-to-val), Hb Mantes-La-Jolie (alpha-79(EF8)ala-to-thr), and Hb Mosella (alpha-111(G18)ala-to-thr).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269509005815" target="_blank">Full Text</a>]
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<a id="394" class="mim-anchor"></a>
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<a id="Wajcman1990" class="mim-anchor"></a>
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<div class="">
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Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., Galacteros, F.
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<strong>A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha-135(H18)val-to-glu].</strong>
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Clin. Chim. Acta 188: 39-48, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0009-8981(90)90144-h" target="_blank">Full Text</a>]
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</p>
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<a id="395" class="mim-anchor"></a>
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<a id="Wajcman1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Blouquit, Y., Vasseur, C., Le Querrec, A., Laniece, M., Melevendi, C., Rasore, A., Galacteros, F.
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<strong>Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.</strong>
|
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Hum. Genet. 89: 676-680, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1511986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00221961" target="_blank">Full Text</a>]
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</p>
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<a id="396" class="mim-anchor"></a>
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<a id="Wajcman1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Bost, M., Blouquit, Y., Prehu, C., Riou, J., Galacteros, F.
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<strong>Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras (alpha7(A5)lys-to-asn) and Hb Lisbon (alpha23(B4)glu-to-asp).</strong>
|
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Hemoglobin 18: 427-432, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7713746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269409045774" target="_blank">Full Text</a>]
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</p>
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<a id="397" class="mim-anchor"></a>
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<a id="Wajcman1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Dahmane, M., Prehu, C., Costes, B., Prome, D., Arous, N., Bardakdjian-Michau, J., Riou, J., Ayache, K. C., Godart, C., Galacteros, F.
|
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<strong>Haemoglobin J-Biskra: a new mildly unstable alpha-1 gene variant with a deletion of eight residues (alpha-50-57, alpha-51-58 or alpha-52-59) including the distal histidine.</strong>
|
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Brit. J. Haemat. 100: 401-406, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.1998.00566.x" target="_blank">Full Text</a>]
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</p>
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<a id="398" class="mim-anchor"></a>
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<a id="Wajcman1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Delaunay, J., Francina, A., Rosa, J., Galacteros, F.
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<strong>Hemoglobin Nouakchott [alpha114(GH2)pro-to-leu]: a new hemoglobin variant displaying an unusual increase in hydrophobicity.</strong>
|
|
Biochim. Biophys. Acta 998: 25-31, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2790052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2790052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2790052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(89)90114-3" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="399" class="mim-anchor"></a>
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<a id="Wajcman1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Elion, J., Boissel, J. P., Labie, D., Jos, J., Girot, R.
|
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<strong>A silent hemoglobin variant: hemoglobin Necker Enfants-Malades alpha 20 (B1) his-to-tyr.</strong>
|
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Hemoglobin 4: 177-184, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7390863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268009042384" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="400" class="mim-anchor"></a>
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<a id="Wajcman1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Gombaud-Saintonge, G., Galacteros, F., Martha, M., Vertongen, F.
|
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<strong>Hb Belliard (alpha56 (E5) lys-to-asn): a new fast-moving alpha chain variant found in a subject of Spanish origin.</strong>
|
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Hemoglobin 13: 157-162, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4667378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4667378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4667378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(72)80645-8" target="_blank">Full Text</a>]
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</p>
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<a id="401" class="mim-anchor"></a>
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<a id="Wajcman1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Kister, J., Galacteros, F., Josifovska, O., Spielvogel, A., Nagel, R.L.
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<strong>Hb Montefiore [alpha126 (H9) asp-to-tyr]: an abnormal hemoglobin with high oxygen affinity and absence of cooperativity.. (Abstract)</strong>
|
|
Blood 80 (suppl. 1): 82a, 1992.
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</p>
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</div>
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<li>
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<a id="402" class="mim-anchor"></a>
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<a id="Wajcman1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Kister, J., M'Rad, A., Marden, M. C., Riou, J., Galacteros, F.
|
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<strong>Hb Val de Marne [alpha133 (H16) ser-to-arg]: a new hemoglobin variant with moderate increase in oxygen affinity..</strong>
|
|
Hemoglobin 17: 407-417, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8294200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269308997495" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="403" class="mim-anchor"></a>
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<a id="Wajcman1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Kister, J., M'Rad, A., Soummer, A. M., Galacteros, F.
|
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<strong>Hb Cemenelum [alpha92 (FG4) arg-to-trp]: a hemoglobin variant of the alpha-1/beta-2 interface that displays a moderate increase in oxygen affinity.</strong>
|
|
Ann. Hemat. 68: 73-76, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8148419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8148419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8148419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01715134" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="404" class="mim-anchor"></a>
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<a id="Wajcman1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Kister, J., Marden, M., Lahary, A., Monconduit, M., Galacteros, F.
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<strong>Hemoglobin Rouen (alpha140(HC2)tyr-to-his): alteration of the alpha chain C-terminal region and moderate increase in oxygen affinity.</strong>
|
|
Biochim. Biophys. Acta 1180: 53-57, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0925-4439(92)90026-j" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="405" class="mim-anchor"></a>
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<a id="Wajcman1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Kister, J., Riou, J., Galacteros, F., Girot, R., Maier-Redelsperger, M., Nayudu, N. V. S., Giordano, P. C.
|
|
<strong>Hb Godavari (alpha-95(G2)pro to thr): a neutral amino acid substitution in the alpha-1/beta-2 interface that modifies the electrophoretic mobility of hemoglobin.</strong>
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|
Hemoglobin 22: 11-22, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9494044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9494044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9494044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269809071513" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="406" class="mim-anchor"></a>
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<a id="Wajcman1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Vasseur, C., Blouquit, Y., Rosa, J., Labie, D., Najman, A., Reman, O., Leporrier, M., Galacteros, F.
|
|
<strong>Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha131 [H14] ser-to-pro) and Hb Caen (alpha132 [H15] val-to-gly).</strong>
|
|
Am. J. Hemat. 42: 367-374, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8493987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8493987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8493987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajh.2830420407" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="407" class="mim-anchor"></a>
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<a id="Wajcman1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wajcman, H., Vasseur, C., Galacteros, F., Blouquit, Y., Rosa, J., Labie, D., Najman, A.
|
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<strong>Hb Questembert [alpha-131(H14)ser-to-pro]: a new highly unstable variant with unbalanced chain synthesis. (Abstract)</strong>
|
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Blood 76 (suppl. 1): 79a, 1990.
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</p>
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</div>
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<li>
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<a id="408" class="mim-anchor"></a>
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<a id="Waye2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waye, J. S., Eng, B., Patterson, M., Carcao, M. D., Chang, L., Olivieri, N. F., Chui, D. H. K.
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<strong>Identification of two new alpha-thalassemia mutations in exon 2 of the alpha-1-globin gene.</strong>
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Hemoglobin 25: 391-396, 2001.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1081/hem-100107876" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="409" class="mim-anchor"></a>
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<a id="Weatherall1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weatherall, D. J., Clegg, J. B.
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<strong>Recent developments in the molecular genetics of human hemoglobin.</strong>
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Cell 16: 467-479, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/378393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">378393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=378393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(79)90022-9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="410" class="mim-anchor"></a>
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<a id="Webber1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Webber, B. B., Lam, H., Wilson, J. B., Huisman, T. H. J.
|
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<strong>Hb Albany-GA or alpha11(A9)lys-to-asn.</strong>
|
|
Hemoglobin 7: 257-262, 1983.
|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6860428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6860428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6860428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268309048654" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="411" class="mim-anchor"></a>
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<a id="Webber1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Webber, B. B., Wilson, J. B., Gu, L.-H., Huisman, T. H. J.
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<strong>Hb Ethiopia or alpha140(HC2)tyr-to-his.</strong>
|
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Hemoglobin 16: 441-443, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1428951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1428951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1428951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269209005699" target="_blank">Full Text</a>]
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<a id="412" class="mim-anchor"></a>
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<a id="Weitkamp1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weitkamp, L. R., Stamatoyannopoulos, G., Rowley, P. T., Kirk, R. L.
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<strong>The linkage relationships of the haemoglobin beta, delta and alpha loci with 34 genetic marker systems.</strong>
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Ann. Hum. Genet. 41: 61-75, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/921219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">921219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=921219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1977.tb01962.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="413" class="mim-anchor"></a>
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<a id="Wilkie1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilkie, A. O. M., Higgs, D. R., Rack, K. A., Buckle, V. J., Spurr, N. K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W. R. A., Harris, P. C.
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<strong>Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.</strong>
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Cell 64: 595-606, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1991321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1991321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1991321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90243-r" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="414" class="mim-anchor"></a>
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<a id="Williamson1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williamson, D., Langdown, J. V., Myles, T., Mason, C., Henthorn, J. S., Davies, S. C.
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<strong>Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb Luton, alpha-89 his-to-leu) and alpha-thalassaemia trait.</strong>
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Brit. J. Haemat. 82: 621-622, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1486044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1486044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1486044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1992.tb06478.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="415" class="mim-anchor"></a>
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<a id="Wilson1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, J. T., deRiel, J. K., Forget, B. G., Marotta, C. A., Weissman, S. M.
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<strong>Nucleotide sequence of 3-prime untranslated portion of human alpha globin mRNA.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/909779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">909779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=909779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/4.7.2353" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="416" class="mim-anchor"></a>
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<a id="Wiltshire1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wiltshire, B. G., Clark, K. G. A., Lorkin, P. A., Lehmann, H.
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<strong>Haemoglobin Denmark Hill (alpha 95 (G2) pro-to-ala), a variant with unusual electrophoretic and oxygen-binding properties.</strong>
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Biochim. Biophys. Acta 278: 459-464, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5085669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5085669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5085669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0005-2795(72)90006-2" target="_blank">Full Text</a>]
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</p>
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<a id="417" class="mim-anchor"></a>
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<a id="Winter1978" class="mim-anchor"></a>
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<p class="mim-text-font">
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Winter, W. P., Rucknagel, D. L., Fielding, J.
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<strong>Identification of several rare hemoglobin variants discovered in a population survey including a new variant Hb Garden State alpha-82 ala-to-asp. (Abstract)</strong>
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Clin. Res. 26: 122A, 1978.
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<a id="418" class="mim-anchor"></a>
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<a id="Wong1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wong, S. C., Ali, M. A. M., Pond, J. R., Rubin, S. M., Johnson, S. E. N., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb J-Singa (alpha-78 asn-to-asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 asn-to-asp, alpha-79 ala-to-gly).</strong>
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Biochim. Biophys. Acta 784: 187-188, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6691995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(84)90126-2" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="419" class="mim-anchor"></a>
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<a id="Yamaoka1960" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamaoka, K., Kawamura, K., Hanada, M., Seita, M., Hitsumoto, S., Ooya, I.
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<strong>Studies on abnormal haemoglobins.</strong>
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Jpn. J. Hum. Genet. 5: 99-111, 1960.
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<a id="420" class="mim-anchor"></a>
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<a id="Yanase1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Molecular basis of morbidity from a series of studies of hemoglobinopathies in western Japan.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5750181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5750181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5750181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="421" class="mim-anchor"></a>
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<a id="Yi1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yi, C. H., Li, H. J., Li, H. W., Zhang, X. S., Zhao, X. N., Zhang, C. T.
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<strong>Hemoglobin Shenyang found among Uygurs in P.R. China.</strong>
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Hemoglobin 13: 97-99, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2703370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2703370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2703370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268908998059" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="422" class="mim-anchor"></a>
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<a id="Yi-Tao1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yi-Tao, Z., Headlee, M. E., Henson, J., Lam, H., Wilson, J. B., Huisman, T. H. J.
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<strong>Identification of hemoglobin G-Philadelphia (alpha68 asn-to-lys) and hemoglobin Matsue-Oki (alpha75 asp-to-asn) in a black infant.</strong>
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Biochim. Biophys. Acta 707: 206-212, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6814490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6814490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6814490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4838(82)90352-1" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="423" class="mim-anchor"></a>
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<a id="Yodsowan2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yodsowan, B., Svasti, J., Srisomsap, C., Winichagoon, P., Fucharoen, S.
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<strong>Hb Siam [alpha-15(A13)gly-arg] is a GGT-CGT mutation in the alpha-1-globin gene.</strong>
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Hemoglobin 24: 71-75, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10722119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10722119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10722119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630260009002277" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="424" class="mim-anchor"></a>
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<a id="Yongsuwan1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yongsuwan, S., Svasti, J., Fucharoen, S.
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<strong>Decreased heat stability found in purified hemoglobin Queens (alpha34(B15)leu-to-arg).</strong>
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Hemoglobin 11: 567-570, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3446653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3446653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3446653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709027873" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="425" class="mim-anchor"></a>
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<a id="Zeng1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zeng, F.-Y., Fucharoen, S., Huang, S.-Z., Rodgers, G. P.
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<strong>Hb Q-Thailand (alpha74 (EF3) asp-to-his): gene organization, molecular structure, and DNA diagnosis.</strong>
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Hemoglobin 16: 481-491, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1487419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269208993116" target="_blank">Full Text</a>]
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<li>
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<a id="426" class="mim-anchor"></a>
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<a id="Zeng1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zeng, Y., Huang, S., Liang, X., Long, G., Lam, H., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Wuming or alpha11 (A9) lys-to-gln.</strong>
|
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Hemoglobin 5: 679-687, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7338470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7338470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7338470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268108991835" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="427" class="mim-anchor"></a>
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<a id="Zeng1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zeng, Y., Huang, S., Qiu, X., Cheng, G., Ren, Z., Jin, Q., Chen, C., Jiao, C., Tang, Z., Liu, R., Bao, X., Zeng, L., Duan, Y., Zhang, G.
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<strong>Hemoglobin Chongqing (alpha2 (NA2) leu-to-arg) and hemoglobin Harbin (alpha16 (A14) lys-to-met) found in China.</strong>
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Hemoglobin 8: 569-581, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6526652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6526652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6526652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268408991742" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="428" class="mim-anchor"></a>
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<a id="Zeng1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zeng, Y., Huang, S., Zhou, X., Qiu, X., Dong, Q., Li, M., Bai, J.
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<strong>Hb Shenyang (alpha26 (B7) ala-to-glu): a new unstable variant found in China.</strong>
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Hemoglobin 6: 625-628, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7161109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7161109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7161109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="429" class="mim-anchor"></a>
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<a id="Zhao1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhao, W., Wilson, J. B., Webber, B. B., Kutlar, A., Tamagnini, G. P., Kuam, B., Huisman, T. H. J.
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<strong>Hb Hekinan observed in three Chinese from Macau: identification of the GAG-to-GAT mutation in the alpha-1-globin gene.</strong>
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Hemoglobin 14: 627-635, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1983218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1983218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1983218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269009046971" target="_blank">Full Text</a>]
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</p>
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<li>
|
|
<a id="430" class="mim-anchor"></a>
|
|
<a id="Zhou1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhou, Z., Chen, L., Chen, P., Zhang, K., Wang, Y.
|
|
<strong>Hemoglobin Hangzhou alpha64 (E13) asp-to-gly: a new variant found in China.</strong>
|
|
Hemoglobin 11: 31-33, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3583763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3583763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3583763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630268709036578" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
|
<a id="431" class="mim-anchor"></a>
|
|
<a id="Zimmer1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zimmer, E. A., Martin, S. L., Beverley, S. M., Kan, Y. W., Wilson, A. C.
|
|
<strong>Rapid duplication and loss of genes coding for the alpha chains of hemoglobin.</strong>
|
|
Proc. Nat. Acad. Sci. 77: 2158-2162, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6929543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6929543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6929543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.77.4.2158" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
|
<a id="432" class="mim-anchor"></a>
|
|
<a id="Zwerdling1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zwerdling, T., Williams, S., Nasr, S. A., Rucknagel, D. L.
|
|
<strong>Hb Port Huron (alpha56(E5)lys-to-arg): a new alpha chain variant.</strong>
|
|
Hemoglobin 15: 381-391, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1802882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1802882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1802882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269108998858" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 12/14/2012
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 11/1/2012<br>Patricia A. Hartz - updated : 1/28/2010<br>Carol A. Bocchini - updated : 5/22/2009<br>Victor A. McKusick - updated : 9/19/2006<br>Ada Hamosh - updated : 7/21/2006<br>Victor A. McKusick - updated : 3/29/2006<br>Victor A. McKusick - updated : 10/11/2005<br>Victor A. McKusick - updated : 8/11/2005<br>Victor A. McKusick - updated : 5/11/2005<br>Victor A. McKusick - updated : 12/6/2004<br>Victor A. McKusick - updated : 8/6/2004<br>Victor A. McKusick - updated : 6/2/2004<br>Victor A. McKusick - updated : 1/20/2004<br>Victor A. McKusick - updated : 1/15/2004<br>Victor A. McKusick - updated : 9/2/2003<br>Victor A. McKusick - updated : 3/5/2003<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 6/3/2002<br>Victor A. McKusick - updated : 5/23/2002<br>Victor A. McKusick - updated : 2/27/2002<br>Victor A. McKusick - updated : 11/1/2001<br>Victor A. McKusick - updated : 10/11/2001<br>Victor A. McKusick - updated : 5/1/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 7/14/1999<br>Ada Hamosh - updated : 4/21/1999<br>Victor A. McKusick - updated : 2/24/1999<br>Victor A. McKusick - updated : 2/9/1999<br>Ada Hamosh - updated : 6/12/1998<br>Victor A. McKusick - updated : 4/30/1998<br>Victor A. McKusick - updated : 2/6/1998<br>Victor A. McKusick - updated : 8/27/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/23/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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alopez : 09/15/2023
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</span>
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</div>
|
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 09/01/2023<br>carol : 08/15/2023<br>carol : 09/12/2022<br>carol : 11/01/2019<br>carol : 05/21/2018<br>carol : 05/10/2018<br>joanna : 07/20/2016<br>carol : 07/19/2016<br>carol : 07/15/2016<br>carol : 7/14/2016<br>carol : 7/14/2016<br>carol : 7/12/2016<br>joanna : 7/11/2016<br>carol : 1/21/2016<br>carol : 2/23/2015<br>carol : 9/12/2014<br>tpirozzi : 9/30/2013<br>alopez : 12/19/2012<br>terry : 12/14/2012<br>alopez : 11/2/2012<br>terry : 11/1/2012<br>alopez : 8/6/2012<br>alopez : 7/25/2011<br>carol : 6/9/2011<br>alopez : 5/13/2011<br>alopez : 1/28/2010<br>terry : 6/3/2009<br>carol : 5/22/2009<br>terry : 1/15/2009<br>terry : 1/15/2009<br>terry : 1/14/2009<br>wwang : 10/4/2007<br>wwang : 10/3/2006<br>terry : 9/19/2006<br>alopez : 7/25/2006<br>terry : 7/21/2006<br>terry : 6/23/2006<br>terry : 3/29/2006<br>carol : 10/21/2005<br>wwang : 10/21/2005<br>terry : 10/11/2005<br>carol : 10/3/2005<br>terry : 8/11/2005<br>wwang : 6/7/2005<br>terry : 5/17/2005<br>terry : 5/17/2005<br>wwang : 5/13/2005<br>terry : 5/11/2005<br>terry : 2/7/2005<br>tkritzer : 1/25/2005<br>terry : 12/6/2004<br>tkritzer : 8/10/2004<br>terry : 8/6/2004<br>tkritzer : 6/8/2004<br>terry : 6/2/2004<br>carol : 3/17/2004<br>tkritzer : 1/21/2004<br>terry : 1/20/2004<br>terry : 1/15/2004<br>cwells : 9/3/2003<br>terry : 9/2/2003<br>carol : 8/29/2003<br>carol : 8/25/2003<br>carol : 5/13/2003<br>terry : 4/17/2003<br>terry : 3/5/2003<br>terry : 3/3/2003<br>tkritzer : 12/10/2002<br>tkritzer : 10/7/2002<br>tkritzer : 10/3/2002<br>tkritzer : 10/2/2002<br>carol : 6/3/2002<br>terry : 6/3/2002<br>terry : 5/23/2002<br>cwells : 3/22/2002<br>cwells : 3/20/2002<br>terry : 2/27/2002<br>mcapotos : 11/1/2001<br>mcapotos : 10/26/2001<br>mcapotos : 10/11/2001<br>cwells : 5/31/2001<br>mcapotos : 2/19/2001<br>mcapotos : 2/15/2001<br>terry : 2/14/2001<br>mcapotos : 5/26/2000<br>mcapotos : 5/24/2000<br>terry : 5/1/2000<br>mcapotos : 2/7/2000<br>mcapotos : 2/4/2000<br>carol : 1/28/2000<br>mcapotos : 1/28/2000<br>mcapotos : 1/24/2000<br>terry : 1/19/2000<br>carol : 12/8/1999<br>mgross : 7/16/1999<br>terry : 7/14/1999<br>carol : 6/27/1999<br>terry : 4/30/1999<br>alopez : 4/21/1999<br>terry : 3/24/1999<br>carol : 3/9/1999<br>terry : 2/24/1999<br>mgross : 2/16/1999<br>mgross : 2/11/1999<br>terry : 2/9/1999<br>dkim : 7/21/1998<br>dkim : 7/21/1998<br>carol : 7/2/1998<br>alopez : 6/12/1998<br>terry : 6/5/1998<br>terry : 6/5/1998<br>alopez : 5/14/1998<br>carol : 5/4/1998<br>terry : 4/30/1998<br>mark : 2/16/1998<br>terry : 2/6/1998<br>terry : 2/6/1998<br>mark : 10/19/1997<br>jenny : 9/5/1997<br>terry : 8/27/1997<br>alopez : 7/31/1997<br>alopez : 7/29/1997<br>terry : 7/10/1997<br>mark : 7/10/1997<br>alopez : 7/10/1997<br>terry : 7/9/1997<br>terry : 7/7/1997<br>mark : 6/14/1997<br>terry : 11/15/1996<br>terry : 11/13/1996<br>mark : 4/12/1996<br>terry : 4/9/1996<br>mark : 2/13/1996<br>terry : 2/5/1996<br>mark : 11/17/1995<br>terry : 11/18/1994<br>jason : 7/29/1994<br>pfoster : 4/25/1994<br>mimadm : 4/17/1994<br>warfield : 4/8/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
|
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 141800
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
3-PRIME ALPHA-GLOBIN GENE<br />
|
|
MINOR ALPHA-GLOBIN LOCUS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
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</div>
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|
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: HBA1</em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
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|
|
<strong>SNOMEDCT:</strong> 36467003, 68913001, 74405003;
|
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|
|
|
<strong>ICD10CM:</strong> D56.0;
|
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|
|
<strong>ICD9CM:</strong> 282.43;
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
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<br />
|
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</div>
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 16p13.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 16:176,680-177,522 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
16p13.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Erythrocytosis, familial, 7
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617981
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Heinz body anemias, alpha-
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
140700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hemoglobin H disease, nondeletional
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613978
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Methemoglobinemia, alpha type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617973
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thalassemias, alpha-
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
604131
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The alpha and beta loci determine the structure of the 2 types of polypeptide chains in the tetrameric adult hemoglobin, Hb A, alpha-2/beta-2. The alpha locus also determines a polypeptide chain, the alpha chain, in fetal hemoglobin (alpha-2/gamma-2), in hemoglobin A2(alpha-2/delta-2), and in embryonic hemoglobin (alpha-2/epsilon-2). The number of normal alpha genes (3, 2, 1 or none) in Asian cases of alpha-thalassemia (604131) results in 4 different alpha-thalassemia syndromes (Kan et al., 1976). Three normal alpha genes gives a silent carrier state. Two normal alpha genes results in microcytosis (so-called heterozygous alpha-thalassemia). One normal alpha gene results in microcytosis and hemolysis (so-called Hb H disease, 613978). No normal alpha gene results in 'homozygous alpha-thalassemia' manifested as fatal hydrops fetalis. </p><p>The alpha chain of human hemoglobin contains 141 amino acids (Konigsberg et al., 1961). </p>
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<strong>Mapping</strong>
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<p>By studies of somatic cell hybrids, Deisseroth et al. (1976) showed that the alpha and beta loci are on different chromosomes. </p><p>Deisseroth et al. (1977) combined the methods of somatic cell hybridization and DNA-cDNA hybridization to establish assignment of the alpha-globin locus to chromosome 16. This represents an extension of the cell hybridization method permitting mapping of genes that are not functional in the cultured cell. Deisseroth and Hendrick (1978) confirmed the assignment of the alpha locus to chromosome 16 by means of cotransfer of this gene with the human APRT gene, known to be on 16 (see 102600), into mouse erythroleukemia cells. (The APRT gene is on the long arm of chromosome 16.) </p><p>Weitkamp et al. (1977) presented data concerning linkage of the alpha and beta loci to 34 marker loci. Data on alpha-thalassemia, combined with those on the Hopkins-2 variant, excluded linkage of alpha and haptoglobin (140100) at a recombination fraction less than 0.15. </p><p>On the basis of findings in a case of partial trisomy 16, Wainscoat et al. (1981) concluded that the alpha-globin genes are on segment 16pter-p12. By combining somatic cell hybridization with a cDNA probe in the study of a cell line with reciprocal translocation between 16q and 11q, Koeffler et al. (1981) showed that the alpha-globin genes are on the short arm of 16. Gerhard et al. (1981) used an improved method of in situ hybridization to confirm the assignment of the alpha-globin cluster to chromosome 16p. </p><p>On the basis of the findings in a fetus with an unbalanced translocation involving 16p, Breuning et al. (1987) concluded that the HBA cluster is distal to PGP (172280). </p><p>By a combination of in situ hybridization, Southern blot analysis, and linkage analysis using the fragile site 16p12.3 and translocation breakpoints within band 16p13.1, Simmers et al. (1987) mapped the alpha-globin gene complex to 16pter-p13.2. </p>
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<strong>Cytogenetics</strong>
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<p>Buckle et al. (1988) described a child in whom cytogenetic analysis indicated monosomy for 16pter-p13.3. DNA studies showed that the patient had not inherited either maternal alpha-globin allele. The child had the alpha-thalassemia trait as well as moderate mental retardation and dysmorphic features. They determined that the gene is located in the 16pter-p13.3 segment. After reviewing earlier data placing the alpha-globin cluster slightly more proximal, they concluded that the findings in this child may be more reliable. </p>
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<strong>Gene Structure</strong>
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<p>Orkin (1978) identified alpha-globin gene fragments in restriction endonuclease digests of total DNA after electrophoresis by hybridization with P32-labeled cDNA probes. The data indicated that the alpha genes occur in duplicate and that the 2 copies lie close together. Thus direct physical evidence was provided for the duplication deduced from the findings with mutant alpha chains and with the alpha-thalassemias and the kinetics of hybridization in solution. The 2 alpha chains lie about 3.7 kilobases apart. </p><p>Leder et al. (1978) presented evidence that the alpha and beta genes of all adult mammalian hemoglobins have 2 intervening sequences at analogous positions. </p>
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<strong>Gene Function</strong>
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<p>Straub et al. (2012) reported a model for the regulation of nitric oxide (NO) signaling by demonstrating that hemoglobin alpha, encoded by the HBA1 and HBA2 (141850) genes, is expressed in human and mouse arterial endothelial cells and enriched at the myoendothelial junction, where it regulates the effects of NO on vascular reactivity. Notably, this function is unique to hemoglobin alpha and is abrogated by its genetic depletion. Mechanistically, endothelial hemoglobin alpha heme iron in the Fe(3+) state permits NO signaling, and this signaling is shut off when hemoglobin alpha is reduced to the Fe(2+) state by endothelial cytochrome b5 reductase 3 (CYB5R3; 613213). Genetic and pharmacologic inhibition of CYB5R3 increased NO bioactivity in small arteries. Straub et al. (2012) concluded that their data revealed a mechanism by which the regulation of the intracellular hemoglobin alpha oxidation state controls nitric oxide synthase (NOS; see 163729) signaling in nonerythroid cells. The authors suggested that this model may be relevant to heme-containing globins in a broad range of NOS-containing somatic cells. </p>
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<strong>Biochemical Features</strong>
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Andersen et al. (2012) presented the crystal structure of the dimeric porcine haptoglobin (140100)-hemoglobin complex determined at 2.9-angstrom resolution. This structure revealed that haptoglobin molecules dimerize through an unexpected beta-strand swap between 2 complement control protein (CCP) domains, defining a new fusion CCP domain structure. The haptoglobin serine protease domain forms extensive interactions with both the alpha- and beta-subunits of hemoglobin, explaining the tight binding between haptoglobin and hemoglobin. The hemoglobin-interacting region in the alpha-beta dimer is highly overlapping with the interface between the 2 alpha-beta dimers that constitute the native hemoglobin tetramer. Several hemoglobin residues prone to oxidative modification after exposure to heme-induced reactive oxygen species are buried in the haptoglobin-hemoglobin interface, thus showing a direct protective role of haptoglobin. The haptoglobin loop previously shown to be essential for binding of haptoglobin-hemoglobin to the macrophage scavenger receptor CD163 (605545) protrudes from the surface of the distal end of the complex, adjacent to the associated hemoglobin alpha-subunit. Small-angle x-ray scattering measurements of human haptoglobin-hemoglobin bound to the ligand-binding fragment of CD163 confirmed receptor binding in this area, and showed that the rigid dimeric complex can bind 2 receptors. </p>
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<strong>Molecular Genetics</strong>
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<p>Wilson et al. (1977) described a possible nucleotide polymorphism in the untranslated 3-prime region of the alpha-globin gene and suggested that the heterogeneity is related to the existence of 2 alpha gene loci. </p><p>Musumeci et al. (1978) pointed out that the combination of alpha-thalassemia and beta-thalassemia leads to less severe clinical expression of homozygous beta-thalassemia. The rarity of a chromosome 16 with both alpha loci deleted (as demonstrated by the restriction endonuclease mapping technique of Southern) explains the rarity of severe forms of alpha-thalassemia in Africans, e.g., Hb H disease, which requires loss of 3 alpha loci and homozygous alpha-thalassemia which requires loss of 4 alpha loci (Dozy et al., 1979). </p><p>By restriction endonuclease mapping, Goossens et al. (1980) identified 12 persons heterozygous for a chromosome carrying 3 alpha genes. There were no hematologic abnormalities. The frequency was 0.0036 in American Blacks and 0.05 in Greek Cypriots. They had previously shown a frequency of 0.16 for the single alpha-globin locus in black Americans. The single locus had a frequency of 0.18 in Sardinians, but none of 125 Sardinians had a triple alpha locus, suggesting that the former had a selective advantage. Greek Cypriots have a frequency of 0.07 for the single alpha locus. Among 645 Japanese subjects studied, Nakashima et al. (1990) found 10 persons heterozygous for a chromosome with the triplicated alpha-globin locus. Thus, the frequency of the triplicate alpha locus was 0.008 in this population, while that of the single alpha-locus, i.e., the alpha-thalassemia-2 gene, may be lower than 0.0008. Analysis of haplotypes suggested that the triple alpha loci may have had multiple origins. Nakashima et al. (1990) commented on the fact that in Melanesia the frequency of the triplicated genotype is about the same (Flint et al., 1986) as in Japan, whereas the frequency of the single alpha gene is much higher, compatible with a selective advantage vis-a-vis malaria. Liebhaber et al. (1981) found identity of the alpha-1-globin genes from an Asian and a Caucasian. Furthermore, the alpha-1 and alpha-2 genes have a much higher degree of homology than would be predicted from the timing of the duplication before the bird-mammal divergence (about 300 Myr ago). Liebhaber et al. (1981) presented this as evidence for the existence of mechanisms for suppression of allelic polymorphisms and for exchange of genetic information within the alpha-globin gene complex. See 142200 for a discussion of gene conversion in relation to a comparably surprising homology of the 2 gamma-globin genes. </p><p>Lehmann and Carrell (1984) suggested the use of the following nomenclature for alpha-thalassemias based on the number of alpha-globin genes that are missing or abnormal: 1-alpha-thalassemia (silent type); 2-alpha-thalassemia, trans or cis (thalassemia trait); 3-alpha-thalassemia (Hb H disease); and 4-alpha-thalassemia (Hb Bart hydrops fetalis). In this scheme, homozygous Hb Constant Spring is a 2-alpha-thalassemia which, if combined with a cis 2-alpha-thalassemia heterozygous Hb Constant Spring, gives a 3-alpha-thalassemia and results in Hb H disease. Lehmann and Carrell (1984) also proposed that the 2 alpha-globin genes be designated as 5-prime (now alpha-2) and 3-prime (now alpha-1). Liebhaber and Cash (1985) described a method for identifying whether the alpha-1 or alpha-2 locus is the site of particular alpha-globin mutations. Rubin and Kan (1985) described a sensitive method for determining how many alpha-globin genes are present. It had the advantages of not requiring restriction enzyme digestion and gel electrophoresis and using the much more stable isotope (35)S rather than 32(P) for labeling. Only a small sample of DNA is needed. Application of the approach to diagnosis of Down syndrome was proposed. Assum et al. (1985) added a fourth restriction site polymorphism in the alpha-globin gene cluster. Compared to the beta-globin cluster, the alpha-globin cluster seemed to show a poverty of DNA polymorphism; however, Higgs et al. (1986) demonstrated a remarkable degree of DNA polymorphism in the alpha-globin gene cluster. In addition, the RFLP haplotype is associated with hypervariable regions of DNA. </p><p>Pseudo-alpha-1 (HBAP1), a pseudogene, is defective in several respects, including splice junction mutations and premature termination codons. Hardison et al. (1986) identified a previously undetected pseudogene in the alpha-globin cluster. It was not detected by hybridization studies but was found only on sequence analysis. Hardison et al. (1986) suggested that 'divergent copies of a large number of genes may comprise a substantial fraction of the slowly renaturing DNA of mammalian genomes.' The newly detected pseudogene, which will be symbolized HBAP2, is only 65 bp 3-prime to the polyadenylation site of zeta-1 (HBZP). The sequence is: 5-prime--HBZ--HBZP--HBAP2--HBA2--HBA1--3-prime. (The functional Hba gene of the mouse is on chromosome 11, but pseudogenes are dispersed to other chromosomes (e.g., Hba-ps3 to mouse chromosome 15) (Popp et al., 1981; Leder et al., 1981; Eicher and Lee, 1991).) </p><p>Vandenplas et al. (1987) described a new form of alpha-0 thalassemia in a South African family ascertained through a case of Hb H disease. A novel deletion of 22.8-23.7 kb of DNA removed 3 pseudogenes as well as the alpha-2 and alpha-1 genes. Since the alpha-2-globin gene encodes the majority of alpha-globin, a thalassemic mutation of the alpha-1-globin gene would be expected to result in a less severe loss of alpha-chain synthesis. </p><p>Moi et al. (1987) described an initiation codon mutation, AUG-to-GUG, in the alpha-1-globin gene. As predicted, the degree of interference with alpha-globin synthesis was less in this mutation than in the mutation in the initiation codon of the alpha-2-globin gene (see 141850). </p><p>Hill et al. (1987) described a unique nondeletion form of Hb H disease in Papua New Guinea: all 4 alpha genes were intact. Hill et al. (1987) commented on the striking difference in the hemoglobinopathies that occur in Southeast Asia and in Melanesia. In the former area, Hb E, Hb Constant Spring, and the Southeast Asian form of deletion alpha-0-thalassemia are all common, whereas these forms have never been found in Melanesians or Polynesians. </p><p>Jarman and Higgs (1988) identified a highly polymorphic region approximately 100 kb upstream of the alpha-globin genes and referred to it as 5-prime HVR. This is a valuable genetic marker for 16p. Higgs et al. (1989) gave a comprehensive review of the molecular genetics of the alpha-globin gene cluster, including its diseases. </p><p>Hatton et al. (1990) presented evidence for the existence of an alpha-locus control region (LCRA; 152422). This would be comparable to the beta-LCR which controls expression of the beta-like genes; see 152424. Liebhaber et al. (1990) identified an individual with alpha-thalassemia in whom structurally normal alpha-globin genes were inactivated in cis by a discrete de novo 35-kb deletion located about 30 kb 5-prime to the alpha-globin gene cluster. They concluded that the deletion inactivates expression of the alpha-globin genes by removing one or more of the previously identified upstream regulatory sequences that are critical to expression of the alpha-globin genes. </p><p>Hemoglobinopathies of alpha-globin can result from missense mutations at either of the 2 alpha-globin loci, HBA1 or HBA2. Since the normal HBA1 and HBA2 genes encode an identical alpha globin, these mutants cannot be assigned to their specific loci on the basis of protein structural analysis. A clue to the encoding locus, HBA1 versus HBA2, is provided by the relative concentration of the alpha-globin mutant in the erythrocyte based on the 2- to 3-fold higher level of expression of the HBA2 gene (Liebhaber et al., 1986). However, since variables such as protein stability, efficiency of hemoglobin tetramer formation, and other factors can affect the steady-state levels of globin mutants, a definitive locus assignment must be directly determined. Cash et al. (1989) quantitated the expression of 2 alpha-globin structural mutants found in the Caribbean basin, Fort de France and Spanish Town, and showed that they are HBA1 and HBA2 mutants, respectively, on the basis of low or high expression. </p><p>Wilkie et al. (1991) described major polymorphic length variation in the terminal region of 16p (16p13.3) by physically linking the alpha-globin locus with probes to telomere-associated repeats. They found 3 alleles in which the alpha-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The 2 most common alleles were found to contain different terminal segments, starting 145 kb distal to the alpha-globin genes. Beyond this boundary these alleles are nonhomologous, yet each contains sequences related to other, different chromosome termini. This chromosome-size polymorphism probably arose by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes. Wilkie et al. (1991) raised the possibility that the high frequency of trisomy 16 may be related to this nonhomology of the 2 common 16pter alleles in their subtelomeric region. </p><p>Huisman et al. (1996) found that of the 141 codons of the alpha-globin genes (there are no sequence differences between the coding regions of the alpha-2 and alpha-1 genes), as many as 99 have been found to be mutated; for several, 3 or 4 mutations have been discovered, while 5 mutations are known for codons 23, 75, and 94, and 6 for codon 141. The mutations appear to occur at random; thus, either one of the 3 bases are replaced in the 199 known alpha-globin gene mutants.</p><p>The suggestion that alpha(+)-thalassemia has achieved a high frequency in some populations as a result of selection by malaria is based on a number of epidemiologic studies. In the southwest Pacific region, there is a striking geographic correlation between the frequency of alpha(+)-thalassemia and the endemicity of Plasmodium falciparum. Allen et al. (1997) undertook a prospective case-control study of children with severe malaria on the north coast of Papua New Guinea, where malaria transmission is intense and alpha(+)-thalassemia affects more than 90% of the population (homozygotes comprise approximately 55% and heterozygotes 37% of the population). Compared with normal children, the risk of having severe malaria was 0.40 in alpha(+)-thalassemia homozygotes and 0.66 in heterozygotes. Unexpectedly, the risk of hospital admission with infections other than malaria also was reduced to a similar degree in homozygotes (0.36) and heterozygotes (0.63). This clinical study demonstrated that a malaria resistance gene protects against disease caused by infections other than malaria. A reduction in mortality greater than that attributable directly to malaria had been observed after the prevention of malaria by insecticides, chemoprophylaxis, and insecticide-impregnated bed nets. Previous observations that direct malaria mortality cannot account for observed hemoglobin S gene frequencies suggest that the findings of this study may apply equally to other malaria resistance genes. </p><p>Fung et al. (1999) reported 3 cases of homozygous alpha-thalassemia who survived beyond the newborn period, all with hypospadias. Review of the literature identified 2 additional cases. Fung et al. (1999) suggested that the hypospadias may have been secondary to the in utero edema leading to failure of fusion of urogenital folds or due to defect or deletion of another gene at 16p13.3. </p><p>For a review of hydrops fetalis caused by alpha-thalassemia, see Chui and Waye (1998). </p><p>From work on the mouse model of alpha-thalassemia, Leder et al. (1999) demonstrated that a normal beta-globin allele can act as a modifying gene ameliorating the severity of alpha-thalassemia. They found that the phenotype of alpha-thalassemia was strongly influenced by the genetic background in which the mutation resided; when both mutant genes were on a chromosome derived from strain 129, the phenotype was severe, whereas it was mild when the gene was on a 129 chromosome and a C57BL/6 chromosome. Linkage mapping indicated that the modifying gene is very tightly linked to the beta-globin locus (lod score = 13.3). Furthermore, the severity of the phenotype correlated with the size of beta-globin-containing inclusion bodies, which accumulate in red blood cells and likely accelerate their destruction. The beta-major globin chains encoded by the 2 strains differed by 3 amino acids, one of which is a glycine-to-cysteine substitution at position 13. The cys13 should be available for interchain disulfide bridging and consequent aggregation between excess beta chains. This normal polymorphic variation between murine beta-globin chains could account for the modifying action of the unlinked beta-globin locus. Here, the variation in severity of the phenotype would not depend on a change in the ratio between alpha and beta chains but on the chemical nature of the normal beta chain, which is in excess. This work also indicated that modifying genes can be normal variants that, absent an apparent physiologic rationale, may be difficult to identify on the basis of structure alone. </p><p>De Gobbi et al. (2006) identified a pathogenetic mechanism underlying a variant form of the inherited blood disorder alpha-thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, De Gobbi et al. (2006) identified a gain-of-function regulatory single-nucleotide polymorphism (rSNP) (141800.0218) in a nongenic region between the alpha-globin genes and their upstream regulatory elements. The rSNP creates a new promoter-like element that interferes with normal activation of all downstream alpha-like globin genes. De Gobbi et al. (2006) concluded that their work illustrates a strategy for distinguishing between neutral and functionally important rSNPs, and it also identifies a pathogenetic mechanism that could potentially underlie other genetic diseases. </p><p>Schoenfelder et al. (2010) found that mouse Hbb and Hba associated with hundreds of active genes from nearly all chromosomes in nuclear foci that they called 'transcription factories.' The 2 globin genes preferentially associated with a specific and partially overlapping subset of active genes. Schoenfelder et al. (2010) also noted that expression of the Hbb locus is dependent upon Klf1 (600599), while expression of the Hba locus is only partially dependent on Klf1. Immunofluorescence analysis of mouse erythroid cells showed that most Klf1 localized to the cytoplasm and that nuclear Klf1 was present in discrete sites that overlapped with RNAII foci. Klf1 knockout in mouse erythroid cells specifically disrupted the association of Klf1-regulated genes within the Hbb-associated network. Klf1 knockout more weakly disrupted interactions within the specific Hba network. Schoenfelder et al. (2010) concluded that transcriptional regulation involves a complex 3-dimensional network rather than factors acting on single genes in isolation. </p><p>N.B.: Alpha-globin variants for which it is unknown whether HBA1 or HBA2 is involved have arbitrarily been included in this entry. Carver and Kutlar (1995) listed 191 alpha-globin variants as of January 1995. The syllabus by Huisman et al. (1996) listed 199 alpha-chain hemoglobin variants as of January 1996. These included single-base mutations in the alpha-2 and alpha-1 genes as well as 2-base mutations. Not included in their syllabus were deletions in mutations that result in alpha-thalassemia, even if such a change (point mutation or frameshift) occurred in one of the coding regions of the gene. Information about the alpha-thalassemias was provided by Higgs et al. (1989). </p>
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<span class="mim-font">
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<strong>History</strong>
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<span class="mim-text-font">
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<p>Gandini et al. (1977) concluded, incorrectly as it turned out, that the alpha loci are on the long arm of chromosome 4 (4q28-q34). The conclusion was based on a finding of excessive synthesis of alpha chains in patients with duplication of this region. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>221 Selected Examples):</strong>
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<h4>
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<span class="mim-font">
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<strong>.0001 HEMOGLOBIN AICHI</strong>
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HBA1, HIS50ARG
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SNP: rs33967561,
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ClinVar: RCV000016986
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<span class="mim-text-font">
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<p>See Harano et al. (1984) and Baudin et al. (1987). </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 HEMOGLOBIN ALBANY-GEORGIA</strong>
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<span class="mim-text-font">
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HEMOGLOBIN ALBANY-SUMA
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HBA1, LYS11ASN
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SNP: rs281860646,
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ClinVar: RCV000016987, RCV000016988
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<span class="mim-text-font">
|
|
<p>This was found in a clinically normal black female in Albany, Georgia (Webber et al., 1983). See also Shimasaki et al. (1983). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HEMOGLOBIN ANANTHARAJ</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS11GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33938574,
|
|
|
|
|
|
|
|
ClinVar: RCV000016989
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Pootrakul et al. (1975). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HEMOGLOBIN ANN ARBOR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU80ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34071856,
|
|
|
|
|
|
|
|
ClinVar: RCV000016990
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Adams et al. (1972) and Adams (1974). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HEMOGLOBIN ARYA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP47ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34269448,
|
|
|
|
|
|
|
|
ClinVar: RCV000016991, RCV001811174
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Rahbar et al. (1975). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HEMOGLOBIN ATAGO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP85TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33915947,
|
|
|
|
|
|
|
|
ClinVar: RCV000016992
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Fujiwara (1970) and Fujiwara et al. (1971). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HEMOGLOBIN ATTLEBORO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, SER138PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34011123, rs63750801,
|
|
|
|
|
|
|
|
ClinVar: RCV000016993
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See McDonald et al. (1990). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HEMOGLOBIN AZTEC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, MET76THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33969953,
|
|
|
|
|
|
|
|
ClinVar: RCV000016994
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Shelton et al. (1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HEMOGLOBIN BARI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS45GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281860685,
|
|
|
|
|
|
|
|
ClinVar: RCV000016995
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Marinucci et al. (1980). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 HEMOGLOBIN BEIJING</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS16ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281860648,
|
|
|
|
|
|
gnomAD: rs281860648,
|
|
|
|
|
|
ClinVar: RCV000016996
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Liang et al. (1982). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 HEMOGLOBIN BIBBA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU136PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34635364, rs41469945,
|
|
|
|
|
|
|
|
ClinVar: RCV000203221, RCV000626695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Kleihauer et al. (1968). (This is actually an allelic variant of the HBA2 gene; see 141850.0030.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 HEMOGLOBIN BOURMEDES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO37ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35776155,
|
|
|
|
|
|
|
|
ClinVar: RCV000016998
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Dahmane-Arbane et al. (1987). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0013 MOVED TO 141850.0018</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 HEMOGLOBIN BROUSSAIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (BROUSSAIS)<br />
|
|
HEMOGLOBIN TAGAWA I
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS90ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33914470,
|
|
|
|
|
|
gnomAD: rs33914470,
|
|
|
|
|
|
ClinVar: RCV000016999, RCV000017000, RCV000017001, RCV001811175
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See de Traverse et al. (1966), Yanase et al. (1968), Vella et al. (1970), and Fleming et al. (1978). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 HEMOGLOBIN CATONSVILLE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, INS GLU, PRO37/GLU/THR38
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34667595,
|
|
|
|
|
|
|
|
ClinVar: RCV000017002
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Virshup et al. (1988). Moo-Penn et al. (1989) identified insertion of a glutamic acid residue between proline-37 and threonine-38 in an unstable hemoglobin variant. The PCR-amplified fragment of the variant gene showed insertion of a GAA codon. In the normal alpha-globin gene cluster, GAG is the codon for glutamic acid. Moo-Penn et al. (1989) suggested that this mutation may have resulted from nonhomologous nonallelic gene conversion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 HEMOGLOBIN CHAD</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU23LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33939620,
|
|
|
|
|
|
|
|
ClinVar: RCV000017003
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Boyer et al. (1968). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 HEMOGLOBIN CHAPEL HILL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP74GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33921047,
|
|
|
|
|
|
|
|
ClinVar: RCV000017004
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Orringer et al. (1976). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 HEMOGLOBIN CHESAPEAKE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG92LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991779,
|
|
|
|
|
|
|
|
ClinVar: RCV000017005, RCV000641142
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Clegg et al. (1966) and Harano et al. (1983). Polycythemia (ECYT7; 617981) is the only clinical feature. This was the first polycythemia-producing variant to be described (Charache et al., 1966). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 HEMOGLOBIN CHIAPAS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO114ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33910377,
|
|
|
|
|
|
|
|
ClinVar: RCV000017006, RCV001283982
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Jones et al. (1968). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 HEMOGLOBIN CHICAGO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU136MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913127, rs41364652,
|
|
|
|
|
|
gnomAD: rs41364652,
|
|
|
|
|
|
ClinVar: RCV000017007
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Bowman et al. (1986). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 HEMOGLOBIN CHONGQING</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU2ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs36030576, rs63750585,
|
|
|
|
|
|
|
|
ClinVar: RCV000017008
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Zeng et al. (1984). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 HEMOGLOBIN CONTALDO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS103ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35329201, rs63750752,
|
|
|
|
|
|
gnomAD: rs35329201,
|
|
|
|
|
|
ClinVar: RCV000017009
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Unstable hemoglobin due to disruption of hydrogen bond between alpha 103 (his) and beta 108 (asn) (Sciarratta et al., 1984). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 HEMOGLOBIN CORDELE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP47ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33944368,
|
|
|
|
|
|
|
|
ClinVar: RCV000017010
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Nakatsuji et al. (1984). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 HEMOGLOBIN DAGESTAN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS60GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34259907,
|
|
|
|
|
|
|
|
ClinVar: RCV000017011
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Spivak et al. (1981) and Lacombe et al. (1987). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0025 MOVED TO 141850.0075</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 HEMOGLOBIN DANESHGAH-TEHRAN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS72ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35859529,
|
|
|
|
|
|
|
|
ClinVar: RCV000017013
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Rahbar et al. (1973) and de Weinstein et al. (1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 HEMOGLOBIN DENMARK HILL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO95ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33984621,
|
|
|
|
|
|
|
|
ClinVar: RCV000017014
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wiltshire et al. (1972). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 HEMOGLOBIN DUAN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP75ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991223,
|
|
|
|
|
|
|
|
ClinVar: RCV000017015
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Liang et al. (1981, 1988). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 HEMOGLOBIN DUNN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP6ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33961916,
|
|
|
|
|
|
|
|
ClinVar: RCV000017016
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Jue et al. (1979) and Baklouti et al. (1988). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 HEMOGLOBIN ETOBICOKE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, SER84ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33926206, rs33996798,
|
|
|
|
|
|
gnomAD: rs33996798,
|
|
|
|
|
|
ClinVar: RCV000017017
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Crookston et al. (1969) and Headlee et al. (1983). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 HEMOGLOBIN EVANSTON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, TRP14ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33964317,
|
|
|
|
|
|
gnomAD: rs33964317,
|
|
|
|
|
|
ClinVar: RCV002508127
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Honig et al. (1982) first described Hb Evanston in 2 black families. See also Moo-Penn et al. (1983). </p><p>Harteveld et al. (2004) found this rare variant alone and in the presence of common alpha-thalassemia deletions in 3 independent Asian cases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 HEMOGLOBIN FERNDOWN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP6VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33986902,
|
|
|
|
|
|
|
|
ClinVar: RCV000017019
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Lee-Potter et al. (1981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 HEMOGLOBIN FONTAINEBLEAU</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA21PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34324664,
|
|
|
|
|
|
gnomAD: rs34324664,
|
|
|
|
|
|
ClinVar: RCV000017020
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1989) found this substitution in an Italian family. The substitution produced no change in the stability or oxygen binding properties of the hemoglobin molecule. The electrophoretic properties were, furthermore, identical to those of Hb A, with the exception of isoelectric focusing in which the variant migrated like Hb A1c. Hb J(Nyanza), another substitution at position alpha-21, likewise causes no hematologic disorder. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 HEMOGLOBIN FORT DE FRANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS45ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928883,
|
|
|
|
|
|
|
|
ClinVar: RCV000017021
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Braconnier et al. (1977). Cash et al. (1989) confirmed that this is a mutant of the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 HEMOGLOBIN G (AUDHALI)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU23VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33939421,
|
|
|
|
|
|
|
|
ClinVar: RCV000017022
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Marengo-Rowe et al. (1968). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0036 MOVED TO 141850.0014</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 HEMOGLOBIN G (FORT WORTH)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN FORT WORTH
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU27GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33964507,
|
|
|
|
|
|
|
|
ClinVar: RCV000017023, RCV000017024
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant was described in 2 black families. Unusually low (5%) concentration was found in heterozygotes, perhaps because of decreased ability of the abnormal alpha chain to form dimers with beta chains. See Schneider et al. (1971) and Carstairs et al. (1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 HEMOGLOBIN G (GEORGIA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO95LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33931314,
|
|
|
|
|
|
|
|
ClinVar: RCV000017025, RCV000506137
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Huisman et al. (1970). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0039 MOVED TO 141850.0054</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 HEMOGLOBIN G (NORFOLK)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP85ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33915947,
|
|
|
|
|
|
|
|
ClinVar: RCV000017026, RCV001800307
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Cohen-Solal et al. (1975) and Lorkin et al. (1975). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 HEMOGLOBIN G (PEST)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP74ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928875,
|
|
|
|
|
|
|
|
ClinVar: RCV000017027, RCV001800308, RCV004586014
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb G (Pest) and Hb J (Buda) (141850.0008), both alpha-chain mutants, occurred together in a Hungarian male with erythrocytosis. The occurrence of some normal Hb A in this man showed the existence of at least 2 alpha loci. See Brimhall et al. (1970, 1974) and Hollan et al. (1972). Using polymerase chain reaction (PCR) to amplify selectively alpha-1 and alpha-2-globin cDNAs, Mamalaki et al. (1990) then hybridized the cDNAs to synthetic oligonucleotides specific for either the normal or the mutated sequence. Using this approach, the alpha-globin structural mutants J-Buda and G-Pest were found to be encoded by the alpha-2 and the alpha-1-globin genes, respectively. The substitution in G-Pest was a change from GAC to AAC at codon 74. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 HEMOGLOBIN G (TAICHUNG)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN Q<br />
|
|
HEMOGLOBIN Q (THAILAND)<br />
|
|
HEMOGLOBIN MAHIDOL<br />
|
|
HEMOGLOBIN ASABARA<br />
|
|
HEMOGLOBIN KURASHIKI
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP74HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928875,
|
|
|
|
|
|
|
|
ClinVar: RCV000017028, RCV000017029, RCV000017030, RCV000017031, RCV000017032, RCV000017033, RCV000417219, RCV000505861
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Vella et al. (1958), Gammack et al. (1961), Lie-Injo et al. (1966, 1979); Blackwell and Liu (1970), Pootrakul and Dixon (1970), Lorkin et al. (1970), Iuchi et al. (1978), and Higgs et al. (1980). Zeng et al. (1992) demonstrated that the mutation is due to a GAC-to-CAC change in codon 74 of the HBA1 gene. They developed a simple and accurate method for diagnosis of the Hb Q (Thailand) variant based on restriction enzyme analysis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 HEMOGLOBIN G (WAIMANALO)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN AIDA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP64ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33984024,
|
|
|
|
|
|
gnomAD: rs33984024,
|
|
|
|
|
|
ClinVar: RCV000017034, RCV000017035
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Blackwell et al. (1973) and Bunn et al. (1978). Schiliro et al. (1991) found this variant in a Filipino mother and child living in Sicily. They showed no hematologic abnormalities. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0044 HEMOGLOBIN GARDEN STATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA82ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34879587,
|
|
|
|
|
|
|
|
ClinVar: RCV000017036
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Winter et al. (1978).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0045 HEMOGLOBIN GRADY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN DAKAR
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 3AA INS, 118THR-GLU-PHE119
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000017038, RCV000017039
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>At the time it was first studied by Huisman et al. (1974), hemoglobin Grady was unique in having an insertion of threonine-glutamic acid-phenylalanine between amino acids 118 and 119 of the alpha chain. Several hemoglobins with deletions were then known (Leiden, Lyon, Freiburg, Niteroi, Tochigi, St. Antoine, Tours and Gun Hill). Scott et al. (1981) found no evidence of an extra (fifth) alpha gene. They argued, therefore, that if, as supposed, Hb Grady arose by unequal crossing over, the event occurred between alleles rather than between the separate alpha-1 and alpha-2 loci. The glu-phe-thr insertion is a repeat of normal residues 116, 117 and 118. See Cleek et al. (1983). Substitution of glutamine for histidine at alpha 112 was thought to be the change in hemoglobin Dakar; however, on restudy the hemoglobin was found to be identical to Hb Grady (Garel et al., 1976). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0046 HEMOGLOBIN GUANGZHOU</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN HANGZHOU
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP64GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35873730,
|
|
|
|
|
|
|
|
ClinVar: RCV000017040, RCV000017041
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Jen and Liu (1987), Zhou et al. (1987), and Li et al. (1990). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 HEMOGLOBIN GUIZHOU</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN UTSUNOMIYA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO77ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34019158,
|
|
|
|
|
|
|
|
ClinVar: RCV000017042, RCV000017043
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Hattori et al. (1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0048 HEMOGLOBIN HANDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN MUNAKATA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS90MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33911106,
|
|
|
|
|
|
|
|
ClinVar: RCV000017044, RCV000017045
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Harano et al. (1982) and Sugihara et al. (1983). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0049 HEMOGLOBIN HANDSWORTH</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY18ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34504387, rs63750294,
|
|
|
|
|
|
gnomAD: rs34504387,
|
|
|
|
|
|
ClinVar: RCV000017037
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Griffiths et al. (1977), Chih-chuan et al. (1981), and Al-Awamy et al. (1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0050 HEMOGLOBIN HARBIN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS16MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35210126,
|
|
|
|
|
|
gnomAD: rs35210126,
|
|
|
|
|
|
ClinVar: RCV000017046
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Zeng et al. (1984). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0051 HEMOGLOBIN HEKINAN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU27ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41530750,
|
|
|
|
|
|
gnomAD: rs41530750,
|
|
|
|
|
|
ClinVar: RCV000017047, RCV000507741
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Harano et al. (1988). Using dot-blot analysis of amplified DNA with (32)p-labeled probes, Zhao et al. (1990) located the mutation in codon 27 of the minor alpha-1 globin gene and showed that the change involved a GAG (glutamic acid)-to-GAT (aspartic acid) mutation. Their patients were 3 Chinese women from Macau. </p><p>In Thailand, Ngiwsara et al. (2004) described 2 unrelated cases of compound heterozygosity for Hb Hekinan and alpha-thalassemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0052 HEMOGLOBIN HIROSAKI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PHE43LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41491146,
|
|
|
|
|
|
|
|
ClinVar: RCV000017048
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Ohba et al. (1975, 1978). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0053 HEMOGLOBIN HOBART</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS20ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33943087,
|
|
|
|
|
|
gnomAD: rs33943087,
|
|
|
|
|
|
ClinVar: RCV000017049
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Fleming et al. (1987). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0054 HEMOGLOBIN HOPKINS 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS112ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34830032,
|
|
|
|
|
|
gnomAD: rs34830032,
|
|
|
|
|
|
ClinVar: RCV000017050, RCV001283981, RCV001826475
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fast hemoglobin. See Smith and Torbert (1958), Itano and Robinson (1960), Bradley et al. (1961), Ostertag et al. (1972), Clegg and Charache (1978). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0055 HEMOGLOBIN I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN I (BURLINGTON)<br />
|
|
HEMOGLOBIN I (PHILADELPHIA)<br />
|
|
HEMOGLOBIN I (SKAMANIA)<br />
|
|
HEMOGLOBIN I (TEXAS)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS16GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41407250,
|
|
|
|
|
|
gnomAD: rs41407250,
|
|
|
|
|
|
ClinVar: RCV000017051, RCV000017052, RCV000017053, RCV000017054, RCV000017055, RCV000507468, RCV001811176, RCV004755738
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fast hemoglobin. Substitution of aspartic acid for lysine at alpha 16 was first reported by Murayama (1962). However, Crick pointed out that this substitution could not be accomplished by change in one base. Restudy by Beale and Lehmann (1965) and by Schneider et al. (1966) showed substitution of glutamic acid for lysine. Hemoglobin I was thought to show sickling but this has been shown to be due to faulty technique (Schneider et al., 1967). See Rucknagel et al. (1955), Schwartz et al. (1957), Itano and Robinson (1959, 1960), Ranney et al. (1962), O'Brien et al. (1964), Thompson et al. (1965), Schneider et al. (1966), Bowman and Barnett (1967), Baur (1968), Labossiere and Vella (1971), Fleming et al. (1978), and Liebhaber et al. (1984). The hemoglobin I mutation is curious in that the mutation is present in HBA2 (141850.0011) as well as in HBA1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0056 MOVED TO 141850.0015</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0057 HEMOGLOBIN IWATA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS87ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33976776,
|
|
|
|
|
|
|
|
ClinVar: RCV000017056
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Shibata et al. (1980) and Liu et al. (1983). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0058 HEMOGLOBIN J (ABIDJAN)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY51ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35934411,
|
|
|
|
|
|
|
|
ClinVar: RCV000017057
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Cabannes et al. (1972). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0059 HEMOGLOBIN J (ANATOLIA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS61THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41381645,
|
|
|
|
|
|
gnomAD: rs41381645,
|
|
|
|
|
|
ClinVar: RCV000017058
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Giordano et al. (1990). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0060 HEMOGLOBIN J (BIRMINGHAM)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (MEERUT)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA120GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs36075744, rs63749927,
|
|
|
|
|
|
gnomAD: rs36075744, rs63749927,
|
|
|
|
|
|
ClinVar: RCV000017059, RCV000017060, RCV000759778, RCV004799744
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Kamuzora and Lehmann (1974) and Blackwell et al. (1974). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0061 MOVED TO 141850.0008</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0062 HEMOGLOBIN J (CAMAGUEY)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991910, rs63750134,
|
|
|
|
|
|
|
|
ClinVar: RCV000017061
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Martinez et al. (1978). Romero et al. (1995) found this hemoglobin variant in 3 Spanish families. The original description by Martinez et al. (1978) was in a Cuban family of Spanish ancestry. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0063 HEMOGLOBIN J (CAPE TOWN)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG92GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991779,
|
|
|
|
|
|
|
|
ClinVar: RCV000017062, RCV000641166
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Botha et al. (1966), Harano et al. (1983), and Lambridis et al. (1986). Erythrocytosis (ECYT7; 617981) is a clinical feature. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0064 HEMOGLOBIN J (CUBUJUQUI)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991910, rs63750134,
|
|
|
|
|
|
|
|
ClinVar: RCV000017063
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Saenz et al. (1977) and Moo-Penn et al. (1981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0065 HEMOGLOBIN J (HABANA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA71GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs3180281,
|
|
|
|
|
|
|
|
ClinVar: RCV000017064
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Colombo et al. (1974) and Ohba et al. (1983). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0066 HEMOGLOBIN J (KUROSH)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA19ASP
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000017065
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Rahbar et al. (1976). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0067 HEMOGLOBIN J (MEDELLIN)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY22ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34608326,
|
|
|
|
|
|
gnomAD: rs34608326,
|
|
|
|
|
|
ClinVar: RCV000017066
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Gottlieb et al. (1964).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0068 HEMOGLOBIN J (NYANZA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA21ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs11548605,
|
|
|
|
|
|
|
|
ClinVar: RCV000017067
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Kendall et al. (1973). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0069 MOVED TO 141850.0010</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0070 HEMOGLOBIN J (PARIS 1)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (ALJEZUR)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA12ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35615982,
|
|
|
|
|
|
gnomAD: rs35615982,
|
|
|
|
|
|
ClinVar: RCV000017068, RCV000017069
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Rosa et al. (1966), Trincao et al. (1968), and Marinucci et al. (1979). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0071 HEMOGLOBIN J (RAJAPPEN)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS90THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33911106,
|
|
|
|
|
|
|
|
ClinVar: RCV000017070, RCV001811177
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Hyde et al. (1971). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0072 HEMOGLOBIN J (ROVIGO)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA53ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34574239,
|
|
|
|
|
|
|
|
ClinVar: RCV000017071
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Alberti et al. (1974) and Moo-Penn et al. (1978). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0073 MOVED TO 141850.0036</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0074 HEMOGLOBIN J (SINGA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASN78ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33964623,
|
|
|
|
|
|
|
|
ClinVar: RCV000017072, RCV000017073
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wong et al. (1984). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0075 HEMOGLOBIN J (SINGAPORE)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASN78ASP AND ALA79GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906544,
|
|
|
|
|
|
|
|
ClinVar: RCV000017072, RCV000017073
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Since no simple frameshift mechanism could be imagined, the possibility of 2 separate mutations was favored by Blackwell et al. (1972), who suggested that 2 separate hemoglobins, appropriately called Hb J (Singa) and Hb J (Pore), will be discovered eventually. Double mutation on the same chromosome would seem more likely than crossing-over in a compound heterozygote since the 2 codons involved are contiguous. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0076 HEMOGLOBIN J (TASHIKUERGAN)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA19GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35628685,
|
|
|
|
|
|
gnomAD: rs35628685,
|
|
|
|
|
|
ClinVar: RCV000017074
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Houjun et al. (1984). Li et al. (1990) found this variant in populations in the Silk Road region of China. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0077 HEMOGLOBIN J (TONGARIKI)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA115ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34204059,
|
|
|
|
|
|
|
|
ClinVar: RCV000017075
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Gajdusek et al. (1967) and Beaven et al. (1972). A homozygous individual had only anomalous hemoglobin suggesting the existence of only one alpha locus in Melanesians (Abramson et al., 1970). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0078 HEMOGLOBIN J (TORONTO)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA5ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34090856,
|
|
|
|
|
|
gnomAD: rs34090856,
|
|
|
|
|
|
ClinVar: RCV000017076, RCV000759776, RCV001831578
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Crookston et al. (1965). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0079 HEMOGLOBIN JACKSON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS127ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33972894, rs63749865,
|
|
|
|
|
|
gnomAD: rs63749865,
|
|
|
|
|
|
ClinVar: RCV000017077
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Moo-Penn et al. (1976). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0080 HEMOGLOBIN KARACHI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA5PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34751764,
|
|
|
|
|
|
gnomAD: rs34751764,
|
|
|
|
|
|
ClinVar: RCV000017078
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Ahmed et al. (1986). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0081 HEMOGLOBIN KARIYA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS40GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34492931,
|
|
|
|
|
|
|
|
ClinVar: RCV000017079
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Harano et al. (1983) and Imai et al. (1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0082 HEMOGLOBIN KAWACHI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO44ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33978134,
|
|
|
|
|
|
|
|
ClinVar: RCV000017080
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Harano et al. (1982). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0083 HEMOGLOBIN KOELLIKER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN F (KOELLIKER)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913128,
|
|
|
|
|
|
|
|
ClinVar: RCV000017081, RCV000017082
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Not a genetic change. The C-terminal amino acid, 141, of the alpha chain (arginine) is missing, probably from the action of a carboxypeptidase present in normal plasma. This unusual fast hemoglobin is observed in persons with hemolysis. The change can occur in fetal hemoglobin also (Kohne et al., 1977). See Marti et al. (1967) and Schiliro et al. (1982). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0084 HEMOGLOBIN KOKURA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN BEILINSON<br />
|
|
HEMOGLOBIN MICHIGAN-I<br />
|
|
HEMOGLOBIN MICHIGAN-II<br />
|
|
HEMOGLOBIN L (GASLINI)<br />
|
|
HEMOGLOBIN TAGAWA II<br />
|
|
HEMOGLOBIN UMI<br />
|
|
HEMOGLOBIN MUGINO<br />
|
|
HEMOGLOBIN YUKUHASHI-2
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP47GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33944368,
|
|
|
|
|
|
|
|
ClinVar: RCV000017083, RCV000017084, RCV000017085, RCV000017086, RCV000017087, RCV000017088, RCV000017089, RCV000017090, RCV000017091
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Yamaoka et al. (1960), Ooya et al. (1961), Sumida (1975), and Ohba et al. (1982). The change is in TP IV (DeVries et al., 1963). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0085 MOVED TO 141850.0012</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0086 HEMOGLOBIN L (PERSIAN GULF)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY57ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35252931,
|
|
|
|
|
|
|
|
ClinVar: RCV000017092
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Rahbar et al. (1969). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0087 HEMOGLOBIN LEGNANO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33935328, rs63751282,
|
|
|
|
|
|
gnomAD: rs63751282,
|
|
|
|
|
|
ClinVar: RCV000017093, RCV000641177
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Mavilio et al. (1978). Erythrocytosis (ECYT7; 617981) is a clinical feature. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0088 HEMOGLOBIN LE LAMENTIN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS20GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41525149,
|
|
|
|
|
|
|
|
ClinVar: RCV000017094
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Sellaye et al. (1982), Harano et al. (1983), and Malcorra-Azpiazu et al. (1988). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0089 HEMOGLOBIN LILLE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP74ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33921047,
|
|
|
|
|
|
|
|
ClinVar: RCV000017095
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Djoumessi et al. (1981) and Lu et al. (1984). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0090 HEMOGLOBIN LOIRE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA88SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35239527,
|
|
|
|
|
|
|
|
ClinVar: RCV000017096, RCV000656378
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant was discovered in a 10-year-old Algerian boy born in Loire. The child had erythrocytosis (ECYT7; 617981) and microcytosis, the latter being due to iron deficiency (Baklouti et al., 1988). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0091 HEMOGLOBIN LUXEMBOURG</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, TYR24HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34743106,
|
|
|
|
|
|
gnomAD: rs34743106,
|
|
|
|
|
|
ClinVar: RCV000017097
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Groff et al. (1989) found this substitution in association with mild hemolytic anemia and increased indirect bilirubinemia in a family originating from the Netherlands. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0092 HEMOGLOBIN M (BOSTON)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN GOTHENBURG<br />
|
|
HEMOGLOBIN M (GOTHENBURG)<br />
|
|
HEMOGLOBIN M (OSAKA)<br />
|
|
HEMOGLOBIN M (KISKUNHALAS)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS58TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35213748,
|
|
|
|
|
|
|
|
ClinVar: RCV000017098, RCV000017099, RCV000017100, RCV000017101, RCV000017102
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>The aberrant hemoglobins associated with methemoglobinemia (see 617973) are referred to as hemoglobin M. Most of the hemoglobin M variants have substitutions of histidine at alpha 58, alpha 87, beta 63, or beta 92. These 4 amino acids are critical to the binding of the heme group. The exception is hemoglobin M (Milwaukee-1). See Gerald et al. (1957), Hansen et al. (1960), Gerald and Efron (1961), Betke (1962), Hayashi et al. (1964), Shimizu et al. (1965), Suzuki et al. (1965), Hollan et al. (1967), and Pulsinelli et al. (1973). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0093 HEMOGLOBIN M (IWATE)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN M (KANKAKEE)<br />
|
|
HEMOGLOBIN M (OLDENBURG)<br />
|
|
HEMOGLOBIN M (SENDAI)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS87TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928876,
|
|
|
|
|
|
|
|
ClinVar: RCV000017103, RCV000017104, RCV000017105, RCV000017106, RCV003313924
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Iwate was the first variant hemoglobin found in Japan (Shibata et al., 1960). Familial cyanosis had been recognized for about 200 years in the prefecture of Iwate in Honshu, where about 70 affected persons were identified in the 1950s. It was called 'kuchikuro,' or 'blackmouth.' In each form of methemoglobinemia (see 617973), the heme iron is stabilized in the ferric form. Patients with the Hb M alpha forms are cyanotic at birth; those with the Hb M beta forms are usually not cyanotic until they are 3 months of age. Horst et al. (1987) showed that the Iwate mutation involves the alpha-1 globin gene. Specifically, they demonstrated a CAC-to-TAC mutation in codon 87 of that gene. They showed that the Iwate mutation can be identified directly on RsaI digestion. See Meyering et al. (1960), Shibata et al. (1961), Gerald and Efron (1961), Miyaji et al. (1962), Heller (1962), Heller et al. (1962), Tonz et al. (1962), Shibata (1964), Tamura (1964), Shimizu et al. (1965), Pik and Tonz (1966), Maggio et al. (1981), and Mayne et al. (1986). </p><p>Ameri et al. (1999) likewise determined that the molecular defect in 2 patients with Hb M (Kankakee) was his87 to tyr in the HBA1 gene. The proportion of Hb M (Kankakee) observed was higher than that predicted for an alpha-1-globin variant. They presented evidence suggesting that the greater-than-expected proportion of Hb M (Kankakee) results from preferential association of the electronegative beta-globin chains with the alpha-(M)-globin chains that are more electropositive than normal alpha-globin chains. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0094 MOVED TO 141850.0047</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0095 HEMOGLOBIN MATSUE-OKI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP75ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33977363,
|
|
|
|
|
|
|
|
ClinVar: RCV000017107
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Ohba et al. (1977) and Yi-Tao et al. (1982). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0096 HEMOGLOBIN MEMPHIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU23GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33939620,
|
|
|
|
|
|
|
|
ClinVar: RCV000017108
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Substitution of glutamine for glutamic acid at alpha 23. A hemoglobin S homozygote who also carries this abnormal hemoglobin has a mild form of sickle cell anemia. See Kraus et al. (1965, 1967) and Cooper et al. (1973). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0097 HEMOGLOBIN MEXICO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J<br />
|
|
HEMOGLOBIN J (MEXICO)<br />
|
|
HEMOGLOBIN J (PARIS 2)<br />
|
|
HEMOGLOBIN UPPSALA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLN54GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35317336,
|
|
|
|
|
|
|
|
ClinVar: RCV000017109, RCV000017110, RCV000017111, RCV000017112, RCV000017113, RCV001800309
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fast hemoglobin. See Jones et al. (1963, 1968), Beckman et al. (1966), Labie and Rosa (1966), Quattrin and Ventruto (1967), Fessas et al. (1969), and Trabuchet et al. (1982). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0098 HEMOGLOBIN MILLEDGEVILLE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO44LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33978134,
|
|
|
|
|
|
|
|
ClinVar: RCV000017114, RCV000641192, RCV002227039
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Honig et al. (1980). Erythrocytosis (ECYT7; 617981) is a clinical feature. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0099 HEMOGLOBIN MIYANO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, THR41SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34890875,
|
|
|
|
|
|
|
|
ClinVar: RCV000017115
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Ohba et al. (1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0100 HEMOGLOBIN MIZUSHI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP75GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991223,
|
|
|
|
|
|
|
|
ClinVar: RCV000017116
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>No hematologic abnormality. See Iuchi et al. (1980). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0101 HEMOGLOBIN MOABIT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU86ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35548338,
|
|
|
|
|
|
|
|
ClinVar: RCV000017117
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Knuth et al. (1979). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0102 MOVED TO 141850.0013</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0103 MOVED TO 141850.0033</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0104 HEMOGLOBIN NECKER ENFANTS-MALADES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS20TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34708054,
|
|
|
|
|
|
|
|
ClinVar: RCV000017118
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant was detected by chromatography in the course of screening diabetics for Hb A1c (Wajcman et al., 1980). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0105 HEMOGLOBIN NIGERIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, SER81CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34936612,
|
|
|
|
|
|
gnomAD: rs34936612,
|
|
|
|
|
|
ClinVar: RCV000017119
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Honig et al. (1978).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0106 HEMOGLOBIN NOKO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, MET76LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33969953,
|
|
|
|
|
|
|
|
ClinVar: RCV000017120
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Shibata et al. (1981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0107 HEMOGLOBIN NORFOLK</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (NORFOLK)<br />
|
|
HEMOGLOBIN KAGOSHIMA<br />
|
|
HEMOGLOBIN NISHIK
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY57ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs36062788,
|
|
|
|
|
|
|
|
ClinVar: RCV000017121, RCV000017122, RCV000017123, RCV000017124
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fast hemoglobin. See Ager et al. (1958), Baglioni (1962), Huntsman et al. (1963), Hanada et al. (1964), Imamura (1966), and Lehmann and Carrell (1969). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0108 HEMOGLOBIN NOUAKCHOTT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO114LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33910377,
|
|
|
|
|
|
|
|
ClinVar: RCV000017125
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wajcman et al. (1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0109 HEMOGLOBIN NUNOBIKI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33991910, rs63750134,
|
|
|
|
|
|
|
|
ClinVar: RCV000017126, RCV000641200
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This hemoglobin showed an extremely high oxygen affinity. The patient, who had 'marginal erythrocytosis' (ECYT7; 617981), was shown to have 13.1% Hb Nunobiki (Shimasaki, 1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0110 HEMOGLOBIN O (INDONESIA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN O (BUGINESE-X)<br />
|
|
HEMOGLOBIN BUGINESE-X<br />
|
|
HEMOGLOBIN O (OLIVIERE)<br />
|
|
HEMOGLOBIN OLIVIERE
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU116LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33987053, rs63749882,
|
|
|
|
|
|
gnomAD: rs33987053, rs63749882,
|
|
|
|
|
|
ClinVar: RCV000017127, RCV000017128, RCV000017129, RCV000017130, RCV000017131, RCV001275688, RCV001811178, RCV004799745
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Lie-Injo and Sadono (1958), Baglioni and Lehmann (1962), and Sansone et al. (1970). </p><p>Daud et al. (2001) investigated the occurrence of hemoglobin O (Indonesia) in related ethnic populations of the Indonesian archipelago. Nineteen individuals heterozygous for this variant were identified in 4 ethnic populations. The level of Hb O (Indonesia) in 17 of the individuals was 11.6 +/- 1.0%, significantly lower than the expected 17 to 22%, indicating the instability of Hb O (Indonesia). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0111 HEMOGLOBIN O (PADOVA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU30LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33993166,
|
|
|
|
|
|
gnomAD: rs33993166,
|
|
|
|
|
|
ClinVar: RCV000017132, RCV001283984
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Vettore et al. (1974), Kilinc et al. (1985), and Martin et al. (1990). Schnedl et al. (1997) showed that the silent hemoglobin O Padova mutation causes an additional peak on high performance liquid chromatography (HPLC) and falsely low HbA(1c) values (glycated hemoglobin) when measured by HPLC. HPLC is the gold standard for evaluation of glycated hemoglobin in diabetes mellitus. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0112 HEMOGLOBIN OGI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN QUEENS
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU34ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35203445,
|
|
|
|
|
|
gnomAD: rs35203445,
|
|
|
|
|
|
ClinVar: RCV000017133, RCV000017134, RCV000985705
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Sugihara et al. (1982), Moo-Penn et al. (1982), and Yongsuwan et al. (1987). This has been shown to be a mutation of the HBA1 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0113 HEMOGLOBIN OLEANDER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU116GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33987053, rs63749882,
|
|
|
|
|
|
gnomAD: rs33987053, rs63749882,
|
|
|
|
|
|
ClinVar: RCV000017135
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Schneider et al. (1982). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0114 HEMOGLOBIN OTTAWA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN SIAM
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY15ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35816645,
|
|
|
|
|
|
gnomAD: rs35816645,
|
|
|
|
|
|
ClinVar: RCV000017136, RCV000017137
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Vella et al. (1974) and Pootrakul et al. (1974). </p><p>Yodsowan et al. (2000) studied this variant in a 21-year-old Thai female and her mother. Turbpaiboon et al. (2002) reported a fourth case of Hb Siam in a healthy Thai female and concluded that there is no alpha-thalassemic effect of the variant. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0115 HEMOGLOBIN OWARI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, VAL121MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35187567, rs63751008,
|
|
|
|
|
|
gnomAD: rs63751008,
|
|
|
|
|
|
ClinVar: RCV000017138, RCV000506427, RCV001275689, RCV001281703
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This is a neutral-to-neutral change; it was detected in the course of mass screening by isoelectric focusing (Harano et al., 1986). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0116 HEMOGLOBIN PERSPOLIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP64TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33984024,
|
|
|
|
|
|
gnomAD: rs33984024,
|
|
|
|
|
|
ClinVar: RCV000017139
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Rahbar et al. (1976). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0117 HEMOGLOBIN PETAH TIKVA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA110ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63749948,
|
|
|
|
|
|
gnomAD: rs63749948,
|
|
|
|
|
|
ClinVar: RCV000017140, RCV001811179, RCV002482880
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Honig et al. (1981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0118 HEMOGLOBIN PONTOISE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (PONTOISE)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA63ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34502246,
|
|
|
|
|
|
|
|
ClinVar: RCV000017141, RCV000017142
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Thillet et al. (1977) and Gonzalez Redondo et al. (1987). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0119 HEMOGLOBIN PORT PHILLIP</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU91PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34684963,
|
|
|
|
|
|
|
|
ClinVar: RCV000017143
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Brennan et al. (1977). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0120 MOVED TO 141850.0055</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0121 HEMOGLOBIN Q (INDIA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP64HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33984024,
|
|
|
|
|
|
gnomAD: rs33984024,
|
|
|
|
|
|
ClinVar: RCV000017144, RCV000985707, RCV001275686
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Sukumaran et al. (1972) and Schmidt et al. (1976). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0122 HEMOGLOBIN Q (IRAN)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP75HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33977363,
|
|
|
|
|
|
|
|
ClinVar: RCV000017145
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Lorkin et al. (1970), Lie-Injo et al. (1979), and Higgs et al. (1980). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0123 MOVED TO 141850.0052</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0124 HEMOGLOBIN REIMS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU23GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33939421,
|
|
|
|
|
|
|
|
ClinVar: RCV000017146
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Bardakdjian-Michau et al. (1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0125 HEMOGLOBIN RUSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY51ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33960522,
|
|
|
|
|
|
gnomAD: rs33960522,
|
|
|
|
|
|
ClinVar: RCV000017147, RCV001283977
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Huisman and Sydenstricker (1962) and Reynolds and Huisman (1966). This has been shown to be a mutation of the HBA1 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0126 HEMOGLOBIN SASSARI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP126HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750950,
|
|
|
|
|
|
|
|
ClinVar: RCV000017148, RCV000641208
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Masala et al. (1987) first described this variant as an electrophoretically slow-moving hemoglobin in 2 brothers affected by erythrocytosis (ECYT7; 617981) with slight microcytosis. In a large screening program involving 20,000 people in the city of Sassari and its surrounding area in Sardinia, Masala (1992) found the variant in 3 other apparently unrelated subjects. A male of German origin was identified by Bardakdjian-Michau et al. (1990) as a carrier of the same mutation. Sanna et al. (1994) demonstrated that the adult variant has increased oxygen affinity, a dramatic reduction of homotropic interactions, and a significant decrease of the effect of 2,3-diphosphoglycerate (35% lower than that observed for Hb A). The fetal variant also showed increased oxygen affinity compared with normal Hb F and an almost abolished heme-heme interaction. </p><p>Paglietti et al. (1998) demonstrated that Hb Sassari results from a GAC (asp)-to-CAC (his) mutation in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0127 HEMOGLOBIN SAVARIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, SER49ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41518249,
|
|
|
|
|
|
gnomAD: rs41518249,
|
|
|
|
|
|
ClinVar: RCV000017149, RCV002476984
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Szelenyi et al. (1980), Juricic et al. (1985), Ojwang et al. (1985), and Suarez et al. (1985). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0128 HEMOGLOBIN SAWARA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP6ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33986902,
|
|
|
|
|
|
|
|
ClinVar: RCV000017150
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>No pathologic effects were observed (Sumida et al., 1973; Sumida, 1975). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0129 MOVED TO 141850.0028</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0130 HEMOGLOBIN SETIF</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP94TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34102339,
|
|
|
|
|
|
|
|
ClinVar: RCV000017151
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wajcman et al. (1972), Nozari et al. (1977), Al-Awamy et al. (1985), and Abdo (1989). Schiliro et al. (1991) found this hemoglobin variant in Sicily. </p><p>Dincol et al. (2003) stated that Hb Setif was first described in an Algerian family (Wajcman et al., 1972) and subsequently in Iranian, African, Saudi Arabian, and Maltese populations. They identified the variant in a Turkish family. Heterozygotes were asymptomatic. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0131 HEMOGLOBIN SHAARE ZEDEK</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS56GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34182019,
|
|
|
|
|
|
|
|
ClinVar: RCV000017152
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Abramov et al. (1980). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0132 HEMOGLOBIN SHENYANG</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA26GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35477770,
|
|
|
|
|
|
gnomAD: rs35477770,
|
|
|
|
|
|
ClinVar: RCV000017153
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Zeng et al. (1982) and Yi et al. (1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0133 HEMOGLOBIN SHIMONOSEKI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN HIKOSHIMA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLN54ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs36024711,
|
|
|
|
|
|
|
|
ClinVar: RCV000017154, RCV000017155
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Yamaoka et al. (1960) and Hanada and Rucknagel (1964). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0134 HEMOGLOBIN SHUANGFENG</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU27LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34776279,
|
|
|
|
|
|
|
|
ClinVar: RCV000017156
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Liang et al. (1981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0135 HEMOGLOBIN SINGAPORE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33935328, rs63751282,
|
|
|
|
|
|
gnomAD: rs63751282,
|
|
|
|
|
|
ClinVar: RCV000017157, RCV004998098
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Clegg et al. (1969). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0136 MOVED TO 141850.0009</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0137 HEMOGLOBIN ST. CLAUDE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS127THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35431217, rs63751308,
|
|
|
|
|
|
|
|
ClinVar: RCV000017158
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Vella et al. (1974).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0138 HEMOGLOBIN ST. LUKE'S</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO95ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33931314,
|
|
|
|
|
|
|
|
ClinVar: RCV000017159, RCV001800310
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Bannister et al. (1972). </p><p>Felice (2003) cited evidence that Hb St. Luke's is a mutation of the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0139 HEMOGLOBIN STANLEYVILLE-II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASN78LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34440919,
|
|
|
|
|
|
gnomAD: rs34440919,
|
|
|
|
|
|
ClinVar: RCV000017160
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Van Ros et al. (1968), North et al. (1980), and Rhoda et al. (1983). Costa et al. (1991) described a family with 1 homozygote and 3 heterozygotes for Hb Stanleyville II. The pattern of restriction fragments demonstrated an associated 3.7-kb alpha-globin gene deletion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0140 HEMOGLOBIN STRUMICA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN SERBIA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS112ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34713708,
|
|
|
|
|
|
|
|
ClinVar: RCV000017161, RCV000017162
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Niazi et al. (1975) and Beksedic et al. (1975). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0141 MOVED TO 141850.0007</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0142 MOVED TO 141850.0017</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0143 HEMOGLOBIN SUNSHINE SETH</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP94HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34102339,
|
|
|
|
|
|
|
|
ClinVar: RCV000017163, RCV000985709
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Schroeder et al. (1979). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0144 HEMOGLOBIN SURESNES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG141HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33935328, rs63751282,
|
|
|
|
|
|
gnomAD: rs63751282,
|
|
|
|
|
|
ClinVar: RCV000017164, RCV000641216
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Poyart et al. (1976) and Saenz et al. (1978). Erythrocytosis (ECYT7; 617981) is a clinical feature. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0145 HEMOGLOBIN SWAN RIVER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP6GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33986902,
|
|
|
|
|
|
|
|
ClinVar: RCV000017165, RCV000641218, RCV001811180, RCV001831579
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Moo-Penn et al. (1987). Harano et al. (1996) observed this variant in a Japanese man with mild polycythemia (ECYT7; 617981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0146 MOVED TO 141850.0037</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0147 HEMOGLOBIN THAILAND</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS56THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33949106,
|
|
|
|
|
|
|
|
ClinVar: RCV000017166
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Pootrakul et al. (1977). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0148 HEMOGLOBIN TITUSVILLE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP94ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34102339,
|
|
|
|
|
|
|
|
ClinVar: RCV000017167
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Schneider et al. (1975). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0149 HEMOGLOBIN TOKONAME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS139THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34849179, rs56348461,
|
|
|
|
|
|
|
|
ClinVar: RCV000017168
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Harano et al. (1983). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0150 HEMOGLOBIN TORINO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PHE43VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35511459,
|
|
|
|
|
|
|
|
ClinVar: RCV000017169
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Beretta et al. (1968) and Prato et al. (1970). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0151 HEMOGLOBIN TOTTORI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY59VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928878,
|
|
|
|
|
|
|
|
ClinVar: RCV000017170
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Nakatsuji et al. (1981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0152 HEMOGLOBIN TOYAMA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEINZ BODY HEMOLYTIC ANEMIA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU136ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34635364, rs41469945,
|
|
|
|
|
|
|
|
ClinVar: RCV000017171, RCV000017172
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This hemoglobin variant is associated with congenital Heinz body anemia (Ohba et al., 1987). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0153 HEMOGLOBIN TWIN PEAKS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU113HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35654345,
|
|
|
|
|
|
gnomAD: rs35654345,
|
|
|
|
|
|
ClinVar: RCV000017173, RCV001811181, RCV004755739
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Guis et al. (1985). This has been shown to be a mutation of the HBA1 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0154 HEMOGLOBIN UBE-2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASN68ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34823698,
|
|
|
|
|
|
|
|
ClinVar: RCV000017176, RCV001800311, RCV004586015
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Miyaji et al. (1967). In Turkey, Bilginer et al. (1984) found the first instance of Hb Ube-2 outside Japan. It occurred in other members of the family. </p><p>Cotton et al. (2000) found this rare variant during universal neonatal screening. The patients had normal hematologic parameters. The variant was found in twins and an older sister and in the father; both parents were of Belgian ancestry. </p><p>Shin et al. (2002) described the disorder in a Taiwanese subject. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0155 HEMOGLOBIN UBE-4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU116ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35932809,
|
|
|
|
|
|
gnomAD: rs35932809,
|
|
|
|
|
|
ClinVar: RCV000017177, RCV001811182
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Ohba et al. (1978). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0156 HEMOGLOBIN WESTMEAD</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS122GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41479347,
|
|
|
|
|
|
gnomAD: rs41479347,
|
|
|
|
|
|
ClinVar: RCV000985723, RCV001275681, RCV002282188, RCV002476016, RCV003147491, RCV003147492, RCV003147493
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant was found in a Chinese woman (Fleming et al., 1980). See Liang et al. (1988). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0157 HEMOGLOBIN WINNIPEG</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP75TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33977363,
|
|
|
|
|
|
|
|
ClinVar: RCV000017179, RCV001811183
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Vella et al. (1973) and Nakatsuji et al. (1983). This has been shown to be a mutation of the HBA1 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0158 HEMOGLOBIN WOODVILLE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP6TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33961916,
|
|
|
|
|
|
|
|
ClinVar: RCV000017180
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Since alpha-6 asp is involved in salt linkage with alpha-127 lys of the same chain, the increased oxygen affinity of hemoglobin variants at this position probably reflects loss of this salt bridge in the deoxy state. Similar changes have been observed for Hb St. Claude which also cannot form the salt bridge because of substitution of threonine for lysine at alpha-127. See Como et al. (1986). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0159 HEMOGLOBIN WUMING</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN J (WENCHANG-WUMING)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS11GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33938574,
|
|
|
|
|
|
|
|
ClinVar: RCV000017174, RCV000017175
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Zeng et al. (1981). Qualtieri et al. (1995) found this fast-migrating hemoglobin variant in a pregnant woman living in Italy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0160 HEMOGLOBIN ZAMBIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS60ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281860659,
|
|
|
|
|
|
|
|
ClinVar: RCV000017181
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Barclay et al. (1969). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0161 HEMOGLOBIN BELLIARD</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS56ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281860657,
|
|
|
|
|
|
|
|
ClinVar: RCV000017182
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wajcman et al. (1990). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0162 HEMOGLOBIN TONOSHO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA110THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34629158,
|
|
|
|
|
|
gnomAD: rs34629158,
|
|
|
|
|
|
ClinVar: RCV000017183
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the course of measuring hemoglobin A1c by automated cation exchange high performance liquid chromatography, Ohba et al. (1990) detected a new alpha-chain variant: substitution of alanine by threonine at position 110. The abnormal alpha chain comprised about 14% of the total alpha chain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0163 HEMOGLOBIN FUKUTOMI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP126VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33957766, rs63750467,
|
|
|
|
|
|
|
|
ClinVar: RCV000017184
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This hemoglobin, which has a high affinity for oxygen, was detected in a Japanese male during a screening survey. The proband was a 53-year-old man with liver cirrhosis and hemorrhagic gastritis (Hidaka et al., 1990). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0164 HEMOGLOBIN PORT HURON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS56ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33949106,
|
|
|
|
|
|
|
|
ClinVar: RCV000017185
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Zwerdling et al. (1991) investigated the structural abnormality of a putative Hb E detected in an African American family with no apparent Asian ancestry. The tryptic peptide map formed by high performance liquid chromatography showed that the electrophoretic variant was indeed the beta glu26-to-lys mutation of Hb E. In addition, however, the tryptic map showed an abnormal alpha peptide. The second mutation was a substitution of arginine for lysine at residue 56 of the alpha chain. The variant was clinically silent. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0165 MOVED TO 141850.0023</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0166 HEMOGLOBIN PAVIE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, VAL135GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35994191, rs63749809,
|
|
|
|
|
|
|
|
ClinVar: RCV000017186
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wajcman et al. (1990). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0167 HEMOGLOBIN QUESTEMBERT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, SER131PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35974739, rs63751417,
|
|
|
|
|
|
|
|
ClinVar: RCV000017187
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Wajcman et al. (1990, 1993). </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0168 HEMOGLOBIN THIONVILLE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, NH2 EXTENSION, VAL1GLU
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs281864802,
|
|
|
|
|
|
|
|
ClinVar: RCV000017188
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Vasseur et al. (1990). Substitution of glutamic acid for valine as the first residue in the mature protein is accompanied by retention of the initiator methionine residue. This may be the only known hemoglobin variant with an NH2-extension in the alpha-globin chain. Hb Marseille (141900.0171), Hb Doha (141900.0069), and Hb South Florida (141900.0266) are examples of hemoglobin variants with an NH2-extension due to retention of the initiator methionine in the beta-globin chain. Each is due to mutation in the first or second residue of the mature protein. Vasseur et al. (1992) found that elongation of the NH2-terminus of the alpha-chain, due to inhibition of cleavage of the initiator methionine which is then acetylated, modifies the 3-dimensional structure of hemoglobin at a region that is known to have an important role in the allosteric regulation of oxygen binding. Hb Thionville has a lowered affinity for oxygen. In contrast, response to 2,3-diphosphoglycerate is normal. </p><p>This variant was numbered based on the first amino acid of the mature protein. In the gene-based system of counting, this variant is VAL2GLY.</p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0169 HEMOGLOBIN KANAGAWA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS40MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864828, rs41416747,
|
|
|
|
|
|
|
|
ClinVar: RCV000017189, RCV000641239
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the course of a high performance liquid chromatography survey of Hb A1c, Miyashita et al. (1992) detected a new hemoglobin in a 70-year-old Japanese male with cerebral infarction and erythremia (ECYT7; 617981). Further studies revealed a lys40-to-met mutation. The variant showed increased oxygen affinity, decreased heme-heme interaction, and a lowered 2,3-diphosphoglycerate effect. </p><p>(Erythremia, a now almost obsolete synonym for polycythemia and erythrocytosis, means increased red blood cell mass.)</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0170 HEMOGLOBIN TURRIFF</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS99GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34806456,
|
|
|
|
|
|
|
|
ClinVar: RCV000017190
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a diabetic woman of Scottish ancestry, Langdown et al. (1992) detected a new hemoglobin variant in the course of determining Hb A1c by high performance liquid chromatography. The abnormal hemoglobin chromatographed with the Hb A1c fraction. Family studies showed that a lys99-to-glu mutation, which was not associated with any hematologic disturbance, had occurred de novo. An AAG-to-GAG mutation was presumed and was not assigned to either the alpha-2- or alpha-1-globin chain. </p><p>The Hb A(1c) level in the patient of Langdown et al. (1992) was found to be very high. In a Japanese individual, Harano et al. (2003) likewise found an unexpectedly high Hb A(1c) level as measured by an automatic Hb A(1c) analyzer and found by DNA sequencing a change in the first nucleotide of codon 99 (AAG-GAG) of the Hb A1 gene. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0171 HEMOGLOBIN ZAIRE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 15-BP TANDEM REPEAT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000017191
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hemoglobin Zaire was found in a 36-year-old patient from Zaire during a systematic hemoglobin study. Wajcman et al. (1992) demonstrated that the abnormality was the insertion of 5 amino acids--his, leu, pro, ala, glu--between glu116 and phe117 of the alpha-globin chain. This sequence represented a tandem repeat of the 5 amino acid residues from 112 through 116, located at the end of the GH corner of the molecule. Hemoglobin Grady (141800.0045) involves the insertion of 3 amino acids as repeats of residues 116, 117 and 118. Unequal crossing over between alleles rather than between the separate alpha-1 and alpha-2 loci was thought to be the mechanism in that case and possibly in the case of Hb Zaire as well. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0172 HEMOGLOBIN LUTON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS89LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33944813,
|
|
|
|
|
|
|
|
ClinVar: RCV000017192
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a newborn infant and the father, a 35-year-old Pakistani man, Williamson et al. (1992) described a new hemoglobin with high oxygen affinity. The high affinity hemoglobin mutation was identified by HPLC peptide mapping and amino acid sequencing; leucine was substituted for histidine at amino acid position 89. The mutation occurred at the end of the F helix (FG1), a part of the hemoglobin structure critical in determining oxygen affinity since it is directly linked to the heme iron through the proximal histidine residue F8. This was the first example of a mutation at this position of the alpha chain of hemoglobin, although there were 2 high affinity mutants that involved the structurally equivalent amino acid (beta94 asp) of the beta chain: Hb Barcelona (beta94 his; 141900.0016) and Hb Bunbury (beta94 asn; 141900.0035). The new hemoglobin was called Hb Luton for the name of the hospital where the proband was originally treated. The proband was a neonate in whom 2 abnormal hemoglobin bands were found, the 2 bands being the mutant forms of fetal and adult hemoglobins containing the anomalous alpha globin. The father had microcytosis as well as mild polycythemia and was shown to have an accompanying alpha-thalassemia trait due to deletion of a single alpha-globin gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0173 HEMOGLOBIN OZIERI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA71VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs3180281,
|
|
|
|
|
|
|
|
ClinVar: RCV000017193
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>During a screening for hemoglobinopathies in Sardinia, Ferranti et al. (1993) found a new 'silent' hemoglobin variant in 5 apparently unrelated newborn babies. The variant was detected by means of isoelectric focusing (IEF), and further study revealed a valine for alanine substitution at position 71 of the alpha-globin chain. The substitution indicated that a C-to-T transition had occurred in the GCG codon for alanine which contains one of the 35 unmethylated CpG dinucleotides of the HBA1 gene. This observation brought to 13 the number of variants due to mutation in the CpGs of the HBA1 gene and raised the possibility that unmethylated CpGs, like methylated ones, may be hotspots for mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0174 HEMOGLOBIN ADANA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY59ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928878,
|
|
|
|
|
|
|
|
ClinVar: RCV000017194, RCV000022600, RCV000756221, RCV001831580, RCV005016276
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 Turkish children with severe thalassemia, Curuk et al. (1992) found a GGC-to-GAC mutation in codon 59 of the HBA1 gene resulting in a replacement of glycine by aspartic acid. The combination of an alpha-thal-1 deletion with the unstable Hb Adana resulted in a severe type of Hb H disease (613978).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0175 HEMOGLOBIN AL-AIN ABU DHABI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY18ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35993097, rs63750679,
|
|
|
|
|
|
|
|
ClinVar: RCV000017195
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>During a routine program of hemoglobin screening performed in the United Arab Emirates, Abbes et al. (1992) found an electrophoretically fast-moving variant in a 9-month-old girl and in several members of her family. Amino acid sequencing demonstrated that the new variant had a gly18-to-asp substitution. Its functional properties were normal. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0176 HEMOGLOBIN POITIERS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS45ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33931984,
|
|
|
|
|
|
|
|
ClinVar: RCV000017196
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Poitiers was discovered by Bardakdjian et al. (1994) in a 9-year-old French Caucasian boy who suffered from chronic anemia. The molecular defect consists of a missense mutation at codon 45 of the HBA1 gene, changing histidine to aspartate. Hb Poitiers displays a 2-fold increased oxygen affinity, a slightly decreased heme-heme interaction, and a slightly faster autooxidation rate. In adult hemoglobin (Hb A), the histidine residue at position 45 of the alpha-globin gene is the only polar contact between the heme group and globin. This position, however, seems to allow for moderate variation without dramatic consequences on the function of hemoglobin. His45 is replaced by glutamine in Hb Bari (141800.0009) and by arginine in Hb Fort de France (141800.0034). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0177 MOVED TO 141850.0062</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0178 HEMOGLOBIN CAEN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, VAL132GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35166834, rs63750708,
|
|
|
|
|
|
|
|
ClinVar: RCV000017197
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1993) discovered the Hb Caen variant in a 25-year-old French Caucasian woman suffering from a mild chronic hemolytic anemia. Trypsin degradation of the isolated hemoglobin alpha chain followed by high performance liquid chromatography indicated that the valine residue at position 132 was replaced by glycine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0179 HEMOGLOBIN YUDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA130ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41528545, rs63750613,
|
|
|
|
|
|
gnomAD: rs63750613,
|
|
|
|
|
|
ClinVar: RCV000017198
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Yuda was discovered in a 65-year-old Japanese female with noninsulin-dependent diabetes mellitus (Fujisawa et al., 1992). Gas phase Edman degradation indicated that the abnormal hemoglobin alpha chain has a substitution of aspartic acid for alanine at residue 130. Hb Yuda has a very low oxygen affinity and slightly decreased cooperative subunit interaction. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0180 HEMOGLOBIN CAPA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP94GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928879,
|
|
|
|
|
|
|
|
ClinVar: RCV000017199
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Capa was discovered in a 28-year-old female in Turkey who was being treated for chronic iron deficiency anemia. The hemoglobin showed abnormal electrophoretic mobility and was mildly unstable in a heat denaturation test. The molecular change was a GAC-to-GGC transition in codon 94, resulting in substitution of glycine for aspartic acid. Three other substitutions of asp-94 are known: Hb Setif (141800.0130), Hb Titusville (141800.0148), and Hb Sunshine Seth (141800.0143). All 4 variants exhibit mild instability.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0181 HEMOGLOBIN MONTEFIORE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP126TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33933481, rs63750950,
|
|
|
|
|
|
gnomAD: rs33933481,
|
|
|
|
|
|
ClinVar: RCV000017200
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1992) demonstrated an asp126-to-tyr change in the HBA1 gene in an individual of Puerto Rican descent. At physiologic pH (7.4), the oxygen binding of the patient's red blood cells revealed a 40% reduction. Hb Montefiore appears to have lower cooperativity than other characterized alpha-126 mutants: aspartic acid is replaced by asparagine in Hb Tarrant (141800.0146), by histidine in Hb Sassari (141800.0126), and by valine in Hb Fukutomi (141800.0163). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0182 HEMOGLOBIN ROUEN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN ETHIOPIA<br />
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, TYR140HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35723200, rs55870409,
|
|
|
|
|
|
|
|
ClinVar: RCV000017201, RCV000017202, RCV000641245
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>A tyr140-to-his mutation in the HBA1 gene was discovered and characterized in a French patient with polycythemia (ECYT7; 617981) by Wajcman et al. (1992) and in a newborn baby of Ethiopian descent by Webber et al. (1992). This mutation provides an example of an alteration of the C terminus of the alpha chain, a region involved in the mechanisms of allosteric regulation. Hb Rouen has increased oxygen affinity and decreased cooperativity. A complementary tyr145-to-his mutation (Hb Bethesda; 141900.0022) in the hemoglobin beta chain has more dramatic effects, suggesting that the alpha and beta chains play unequal roles in the overall function of hemoglobin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0183 HEMOGLOBIN MELUSINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO114SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34472107,
|
|
|
|
|
|
|
|
ClinVar: RCV000017203
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Melusine was found in an Algerian patient during a systematic screening for hemoglobinopathies in Luxembourg. Using isoelectric focusing and reverse phase high performance liquid chromatography (RP-HPLC), Wajcman et al. (1993) determined that the molecular mutation at amino acid position 114 of the HBA1 gene changed the residue from proline to serine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0184 HEMOGLOBIN TAYBE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, THR38DEL OR THR39DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63751150,
|
|
|
|
|
|
|
|
ClinVar: RCV000017204, RCV004589515, RCV005007861
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Girodon et al. (1992) reported the characterization of Hb Taybe, a hemoglobin variant discovered in a young Arabic woman suffering since birth from a severe and highly regenerative hemolytic anemia. DNA amplification and sequencing of the HBA1 gene indicated a 3-bp deletion (encoding threonine) at amino acid position 38 or 39. This variant increases the hydrophobicity of the amino acid chain, and it is quite unstable.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0185 HEMOGLOBIN CEMENELUM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ARG92TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34868036,
|
|
|
|
|
|
|
|
ClinVar: RCV000017205
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1994) described a missense mutation involving the same codon as that involved in Hb Chesapeake (141800.0018), the first high oxygen affinity hemoglobin variant to be described in association with polycythemia (Charache et al., 1966). Hb Chesapeake has an arg92-to-leu substitution; Hb Cemenelum has an arg92-to-trp substitution. Hb J (Cape Town) (141800.0063) has a substitution (arg92-to-gln) in the same codon. Hb Cemenelum was discovered in a French diabetic patient with no hematologic abnormalities. The purified abnormal hemoglobin, like Hb J (Cape Town), displayed only a 1.5- to 2-fold increased oxygen affinity. The findings demonstrate that the degree to which the functional properties are altered by changes in key residues at the alpha-beta interface depends upon the specific residue occupying this position. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0186 HEMOGLOBIN RAMONA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, TYR24CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928880,
|
|
|
|
|
|
|
|
ClinVar: RCV000017206
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Ramona was accidentally detected by isoelectrofocusing in a pregnant woman of part Spanish descent; its mobility was slightly faster than that of Hb A. A TAT-to-TGT change was found at codon 24, corresponding to a replacement of tyrosine by cysteine.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0187 HEMOGLOBIN TATRAS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS7ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34410516,
|
|
|
|
|
|
gnomAD: rs34410516,
|
|
|
|
|
|
ClinVar: RCV000017207, RCV001811184
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 72-year-old woman born in Czechoslovakia, Wajcman et al. (1994) found a lys7-to-asn mutation when investigating the basis for an abnormal level of Hb A1c. No abnormal hematologic features were observed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0188 HEMOGLOBIN LISBON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLU23ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281860684,
|
|
|
|
|
|
|
|
ClinVar: RCV000017208
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 31-year-old man of Portuguese origin who had suffered from diabetes mellitus since the age of 15 years, Wajcman et al. (1994) found an abnormal hemoglobin during measurement of Hb A1c by an isoelectrofocusing study. There were no abnormal hematologic features. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0189 HEMOGLOBIN ROANNE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASP94GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34814612,
|
|
|
|
|
|
|
|
ClinVar: RCV000017209
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kister et al. (1995) described a new hemoglobin variant in a 73-year-old woman from Roanne in central France. She suffered from mild chronic hemolytic anemia. An asp94-to-glu substitution was found in the alpha-1 chain. Aspartate-94 is involved in several contacts, both in the deoxy- and oxy-structures of the hemoglobin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0190 HEMOGLOBIN MALHACEN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA123SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928881,
|
|
|
|
|
|
gnomAD: rs28928881,
|
|
|
|
|
|
ClinVar: RCV000017210
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kazanetz et al. (1995) observed this variant hemoglobin in an adult male in Granada, Spain, who was evaluated because of severe iron deficiency anemia. Sequencing of the HBA1 gene showed 2 nucleotide changes. One was a simple polymorphism, as both GCG and GCT code for alanine (at codon 120). The second mutation was a GCC-to-TCC change at codon 123 resulting in replacement of alanine by serine. The replacement caused slight differences in the IEF and reversed-phase HPLC experiments, but the stability of the hemoglobin was normal. Family studies were not performed; thus, whether the 2 mutations were in coupling or repulsion was not known. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0191 HEMOGLOBIN TUNIS-BIZERTE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LEU129PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35993655,
|
|
|
|
|
|
gnomAD: rs35993655,
|
|
|
|
|
|
ClinVar: RCV000017211, RCV000756223, RCV001276182, RCV005016277
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of a Tunisian family, Darbellay et al. (1995) identified a leu129-to-pro substitution in the HBA1 gene by sequencing the entirety of the HBA2 and HBA1 genes. In the heterozygous state, the variant was manifested by microcytosis, whereas the homozygous state showed moderate anemia with marked microcytosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0192 MOVED TO 141850.0068</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0193 HEMOGLOBIN BOIS GUILLAUME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA65VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34733452,
|
|
|
|
|
|
|
|
ClinVar: RCV000017212
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By tiny abnormalities observed during isoelectrofocusing, Wajcman et al. (1995) identified this electrophoretically silent variant in 3 members of a Caucasian-French family. This hemoglobin was the first alpha-chain variant that involved position 64. In the beta chain, the corresponding position, E14, is also occupied by an alanine residue; in Hb Seattle (141900.0256), it is replaced by aspartic acid (ala70-to-asp). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0194 HEMOGLOBIN MANTES-LA-JOLIE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA79THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34586189,
|
|
|
|
|
|
|
|
ClinVar: RCV000017213
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1995) found this variant hemoglobin during a systematic study of the iron status in a 6-month-old baby and his mother who originated from Chad in North Central Africa. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0195 HEMOGLOBIN MOSELLA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ALA111THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34863047,
|
|
|
|
|
|
|
|
ClinVar: RCV000017214
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1995) found this variant in a 35-year-old pregnant woman of Caucasian origin who lived in Luxembourg. The abnormal Hb was also found in one of her daughters. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0196 HEMOGLOBIN FUCHU-I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS72TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs36104787,
|
|
|
|
|
|
|
|
ClinVar: RCV000017215
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>At the Fuchu Municipal Medical Center in Tokyo, Harano et al. (1995) identified 2 Hb variants in the course of assaying glycated hemoglobin, Hb A(1c), of the peripheral blood by cation exchange HPLC. Structural analyses demonstrated that 1 patient had a his72-to-tyr substitution and the other an asn97-to-his substitution (141800.0197) of the alpha-globin chain. These were named Hb Fuchu-I and Hb Fuchu-II, respectively. Both were healthy adults. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0197 HEMOGLOBIN FUCHU-II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASN97HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41322954,
|
|
|
|
|
|
|
|
ClinVar: RCV000017216
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 141800.0196.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0198 HEMOGLOBIN GOUDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS72GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928882,
|
|
|
|
|
|
|
|
ClinVar: RCV000017217
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 54-year-old Dutch woman under treatment for diabetes mellitus, Giordano et al. (1996) incidentally found a silent alpha-chain variant on testing for glycated hemoglobin. A CAC-to-CAA transversion was predicted to result in substitution of glutamine for histidine at residue 72 in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0199 HEMOGLOBIN J (BISKRA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 24-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750122,
|
|
|
|
|
|
|
|
ClinVar: RCV000017218
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wajcman et al. (1998) described Hb J-Biskra, a variant hemoglobin consisting of deletion of 24 nucleotides from the HBA1 gene and 8 amino acid residues from the alpha-globin chain: residues 50-57, 51-58, or 52-59. This variant was mildly unstable in vitro only, and there was no hematologic or biochemical evidence of hemolysis in affected family members. Wajcman et al. (1998) stated that this was the largest deletion reported to that time in a hemoglobin molecule that is expressed at an almost normal level in the red blood cell. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0200 HEMOGLOBIN GODAVARI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, PRO95THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33984621,
|
|
|
|
|
|
|
|
ClinVar: RCV000017219
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Godavari is the fourth example of a substitution involving neutral residues at position 95 of the alpha-1 chain. In all of these variants, the electrophoretic pattern suggested that the structural modification unmasks a charged residue in the alpha-1/beta-2 contact area. The other examples are Hb Denmark Hill, pro95 to ala (141800.0027); Hb G (Georgia), and pro95 to leu (141800.0038). Hb Godavari shared the same electrophoretic properties as these variants, but displayed minimal alterations of the oxygen-binding properties. Wajcman et al. (1998) identified Hb Godavari in 2 families of different ethnic origin. The first case, found in the Netherlands, involved an Indian patient. The second case was identified a few months later in an African family from Mali, living in France. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0201 HEMOGLOBIN OITA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS45PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928883,
|
|
|
|
|
|
|
|
ClinVar: RCV000017220
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hamaguchi et al. (1998) reported a neutral (silent) hemoglobin variant, designated Hb Oita, in which a change from CAC to CCC caused a his45-to-pro substitution. In Hb Bari (141800.0009), his45 is replaced by gln. In Hb Fort de France (141800.0034), his45 is replaced by arg. In Hb Portiers (141800.0176), his45 is replaced by asp. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0202 HEMOGLOBIN AGHIA SOPHIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, VAL62DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35672478,
|
|
|
|
|
|
|
|
ClinVar: RCV000017221, RCV000022601, RCV001078389
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Greek child with Hb H disease (613978), Traeger-Synodinos et al. (1999) found deletion of codon 62 of the alpha-1 gene, leading to alpha-plus-thalassemia. Codon 62 encodes a valine residue at the E11 alpha helix, which is located in the interior of the heme pocket. Substitutions of this valine with other amino acid residues in the alpha as well as beta polypeptide chains lead, in the heterozygous carrier, either to Hb M disease or to congenital nonspherocytic hemolytic anemia. Traeger-Synodinos et al. (1999) assumed that deletion of val at position 62 disrupted the conformation of the alpha chain to such an extent that the mutated subunit was rapidly removed by proteolysis. The final result was an alpha-thalassemia phenotype rather than an unstable hemoglobin syndrome. This conclusion was supported by the apparent absence of an abnormal alpha chain in the peripheral blood of the patient. Hb Evans (141850.0006) is a val62-to-met mutation of the HBA2 gene and was found in a patient with mild hemolytic anemia. Four amino acid substitutions at position 67(E11)val of the beta chain lead to instability of the Hb tetramer and an anemia of variable degrees in the heterozygotes. One of these substitutions, val67 to glu (141900.0163), results in the stable Hb M-Milwaukee-I. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0203 HEMOGLOBIN CHAROLLES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS103TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928884,
|
|
|
|
|
|
|
|
ClinVar: RCV000017222, RCV003387725
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Lacan et al. (1999) detected Hb Charolles in a 46-year-old patient who presented with microcytosis and hypochromia. It was easily detected by isoelectrofocusing and high performance liquid chromatography. It accounted for 11% of the total hemoglobin. The amino acid change resulted from a CAC-to-TAC change in codon 103. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0204 HEMOGLOBIN ROUBAIX</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, VAL55LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34068598,
|
|
|
|
|
|
|
|
ClinVar: RCV000017223
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French family from the north of France, Prehu et al. (1999) found a new HBA1 variant in 5 members. The variant was initially detected during measurement of glycated hemoglobin in a woman originating from Roubaix. Codon 55 in exon 2 was found to have a heterozygous change from GTT (val) to CTT (leu). This was a neutral variant. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0205 HEMOGLOBIN DOUALA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, SER3PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35850071,
|
|
|
|
|
|
|
|
ClinVar: RCV000017224
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a woman from Cameroon, Prehu et al. (2001) identified a new hemoglobin variant, designated Hb Douala, with a C-to-T transition (TCT-TTT) in the HBA1 gene, resulting in a ser3-to-phe (S3F) amino acid substitution. The patient was also heterozygous for Hb S (141900.0243) and for a 3.7-kb deletional alpha-thalassemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0206 THALASSEMIA, ALPHA-PLUS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 21-BP INS-DUP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1902161681,
|
|
|
|
|
|
|
|
ClinVar: RCV000017225, RCV003736542
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Iranian descent with the hematologic profile of alpha-plus-thalassemia characterized by mild microcytosis, Waye et al. (2001) found a 21-bp insertion/duplication that gave rise to a predicted alpha-globin chain containing a duplication of amino acid residues 93-99. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0207 THALASSEMIA, ALPHA-PLUS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 33-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000017226
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Greek descent with the hematologic profile of alpha-plus-thalassemia characterized by mild microcytosis, Waye et al. (2001) found a 33-bp deletion in the HBA1 gene resulting in a predicted alpha-globin chain missing amino acid residues 64-74. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0208 HEMOGLOBIN DELFZICHT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, ASN9LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928885,
|
|
|
|
|
|
|
|
ClinVar: RCV000017227
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Harteveld et al. (2002) reported a 69-year-old Dutch woman monitored for diabetes mellitus in whom Hb A(L1c) analysis revealed a clinically silent hemoglobin variant, asn9 to lys (N9K), due to an AAC-to-AAG transversion in heterozygous state. The mutation was identical to that found at the same position in the HBA2 gene that leads to a variant named Hb Park Ridge (141850.0048). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0209 HEMOGLOBIN SARATOGA SPRINGS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, LYS40ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928886,
|
|
|
|
|
|
|
|
ClinVar: RCV000017228
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old Caucasian male of Swedish ancestry who lived in Saratoga Springs, New York, Hoyer et al. (2003) identified a hemoglobin variant with abnormal oxygen affinity, designated Hb Saratoga Springs. There was no family history of erythrocytosis. The patient had no smoking history. A change of codon 40 of the HBA1 gene from AAG to AAC resulted in a lys40-to-asn (K40N) change. Lys40 is replaced by glu in Hb Kariya (141800.0081), and by met in Hb Kanagawa (141800.0169). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0210 HEMOGLOBIN DIE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, VAL93ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34769782,
|
|
|
|
|
|
|
|
ClinVar: RCV000017229
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old girl living near the town of Die in southeast France, Lacan et al. (2004) identified a val93-to-ala (V93A) mutation in the HBA1 gene. The family was of French Caucasian origin. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0211 HEMOGLOBIN BEZIERS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HBA1, LYS99ASN
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|
<br />
|
|
|
|
SNP: rs34273731,
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|
|
gnomAD: rs34273731,
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|
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|
|
ClinVar: RCV000017230
|
|
|
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 72-year-old woman of French Caucasian origin living in the city of Beziers in the south of France, Lacan et al. (2004) identified a lys99-to-asn (K99N) mutation in the HBA1 gene. The variant was found during the determination of Hb A(1c) by high performance liquid chromatography (HPLC) in this diabetic patient. Hematologic data were normal, without hepatomegaly or splenomegaly. </p>
|
|
</span>
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|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0212 HEMOGLOBIN BUFFALO</strong>
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|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HBA1, HIS89GLN
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<br />
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|
|
SNP: rs1061009,
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|
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ClinVar: RCV000017231, RCV001811185, RCV004782016
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|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 32-year-old Somali male living in the Netherlands who was being monitored for diabetes mellitus, Harteveld et al. (2004) identified Hb S (141900.0243) in heterozygous state and a heterozygous C-to-G transversion in the HBA1 gene, resulting in a his89-to-gln (H89Q) substitution. The H89Q mutation had previously been described in a Yemenite woman and 2 apparently unrelated Somali males (Hoyer et al., 2002), and had been designated Hb Buffalo. No hematologic abnormality had been associated with the allelic variant in this or other cases. In addition to Hb Buffalo, 4 amino acid substitutions had been reported at codon 89: Hb Luton (his89 to leu; 141800.0172), Hb Villeurbanne (his89 to tyr; 141800.0213), Hb Tokyo (his89 to pro; 141800.0214), and Hb Tamano (his89 to arg; 141800.0215). </p>
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0213 HEMOGLOBIN VILLEURBANNE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS89TYR
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs34988734,
|
|
|
|
|
|
|
|
ClinVar: RCV000017232
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Deon et al. (1997) identified a his89-to-tyr (H89Y) mutation in the HBA1 gene as the defect in Hb Villeurbanne. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0214 HEMOGLOBIN TOKYO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS89PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33944813,
|
|
|
|
|
|
|
|
ClinVar: RCV000017233
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Harteveld et al. (2004) stated that Hb Tokyo carries a his89-to-pro (H89P) mutation in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0215 HEMOGLOBIN TAMANO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS89ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33944813,
|
|
|
|
|
|
|
|
ClinVar: RCV000017234
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Harteveld et al. (2004) stated that Hb Tamano carries a his89-to-arg (H89R) mutation in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0216 HEMOGLOBIN RICCARTON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, GLY51SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33960522,
|
|
|
|
|
|
gnomAD: rs33960522,
|
|
|
|
|
|
ClinVar: RCV000017235, RCV001811186, RCV003904846
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Caucasian boy investigated for fatigue and microcytosis, Brennan et al. (2005) found a GGC-to-AGC transition at codon 51 in the HBA1 gene, resulting in a gly51-to-ser substitution (G51S). The mutation was thought not to be the cause of the microcytosis as it was detected also in the boy's father who had normal red cell indices. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0217 HEMOGLOBIN OEGSTGEEST</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, CYS104SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35059618,
|
|
|
|
|
|
|
|
ClinVar: RCV000017236
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old black female of Surinamese origin with a mild alpha-thalassemia phenotype, Harteveld et al. (2005) identified homozygosity for a TGC-to-AGC transversion in the HBA1 gene, resulting in a cys104-to-ser substitution. Cysteine-104 is involved in alpha/beta globin contact and had been described as a critical amino acid of the HBA2 chain when substituted by a tyrosine (cys104 to tyr) in Hb Sallanches (141850.0031). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0218 HEMOGLOBIN LAMEN ISLAND</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 149709T-C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2142009890,
|
|
|
|
|
|
|
|
ClinVar: RCV000017237
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>De Gobbi et al. (2006) studied 148 individuals from Melanesia with alpha-thalassemia, including 5 with HbH disease, in whom none of the theretofore described molecular defects could be found. The pattern of inheritance suggested that individuals with HbH disease were homozygous for a codominant defect, referred to as (alpha-alpha)T, causing alpha-thalassemia with a predicted genotype of (alpha-alpha)T/(alpha-alpha)T. In situ RNA hybridization in erythroid cells from an affected individual from Lamen Island (Vanuatu) detected substantially fewer nuclear transcripts from the alpha-globin genes than from the beta-globin genes. DNA FISH in 2 affected individuals showed that the alpha-globin cluster was present at its normal location of chromosome 16, and no deletions or chromosomal rearrangements were detected in any of these individuals. Linkage analysis showed that the disease phenotype in individuals was derived from telomeric chromosome 16 T. Only the C allele of SNP195 (C or T, located at coordinate 149709) segregated with thalassemia in the affected families and showed complete association with the (alpha-alpha)T haplotype. This allele was not found in a separate analysis of 131 nonthalassemic Melanesian individuals. SNP195 changes the sequence 5-prime-TAATAA-3-prime (T allele) to 5-prime-TGATAA-3-prime (C allele), potentially creating a new binding site for the key erythroid transcription factor GATA1. GATA1 binds at the C allele of SNP195 in vivo. SNP195 creates a new promoter-like element between the upstream regulatory elements and their cognate promoters. This element, when activated, causes significant downregulation of the alpha-D, alpha-2, and alpha-1 genes that lie downstream, thereby causing alpha-thalassemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0219 ALPHA-THALASSEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, 1-BP DEL, 354C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs767911847,
|
|
|
|
|
|
gnomAD: rs767911847,
|
|
|
|
|
|
ClinVar: RCV000759777, RCV002282356, RCV002485969, RCV003413547
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a newborn of mixed black and Chinese descent who carried the Southeast Asian alpha-0-thal deletion, Eng et al. (2006) also found a 1-bp deletion of cysteine from codon 78 in exon 2 of the HBA1 gene, resulting in a frameshift and premature termination at codon 83. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0220 HEMOGLOBIN AUCKLAND</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA1, HIS87ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928876,
|
|
|
|
|
|
|
|
ClinVar: RCV000017239
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 27-year-old woman with mild compensated hemolytic anemia, Brennan and Matthews (1997) identified Hb Auckland, a his87-to-asn substitution in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.9999 HEMOGLOBIN ALPHA VARIANTS, MOLECULAR DEFECT UNKNOWN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>HEMOGLOBIN J (INDIA). See Raper (1957). </p><p>HEMOGLOBIN J (MALAYA). See Lehmann (1962).</p><p>HEMOGLOBIN K (CALCUTTA). Fast hemoglobin. See Lehmann (1962).</p><p>HEMOGLOBIN K (MADRAS). See Ager and Lehmann (1957). </p><p>HEMOGLOBIN KARAMOJO. See Allbrook et al. (1965). </p><p>HEMOGLOBIN L (BOMBAY). See Sukumaran and Pik (1965). </p><p>HEMOGLOBIN M (RESERVE). Reduced oxygen affinity and decreased reversible oxygen-binding capacity (Overly et al., 1967). </p><p>HEMOGLOBIN N, ALPHA TYPE. An alpha chain anomaly was deduced from molecular hybridization experiments with canine hemoglobin (Silvestroni et al., 1963). Other hemoglobin N variants have a beta change. </p><p>HEMOGLOBIN NICOSIA. See Fessas et al. (1965). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Al-Awamy et al. (1985); Baklouti et al. (1988); Barg et al. (1982);
|
|
Barton et al. (1982); Brittenham et al. (1980); Davis et al. (1979);
|
|
Dincol et al. (1994); Dozy et al. (1979); Embury et al. (1979);
|
|
Harano et al. (1983); Harano et al. (1983); Harano et al. (1983);
|
|
Harano et al. (1984); Harano et al. (1982); Hess et al. (1983); Higgs
|
|
et al. (1981); Hill et al. (1985); Huisman and Miller (1976); Kan et
|
|
al. (1979); Kielman et al. (1993); Li et al. (1990); Liang et al.
|
|
(1981); Liebhaber et al. (1980); Marinucci et al. (1979); Meloni et
|
|
al. (1980); Ohba et al. (1978); Phillips et al. (1979); Phillips et
|
|
al. (1980); Pobedimskaya et al. (1994); Priest et al. (1989);
|
|
Proudfoot and Maniatis (1980); Romao et al. (1992); Schroeder and
|
|
Jones (1965); Shimizu et al. (1965); Southern (1975); Vella et al.
|
|
(1974); Wainscoat et al. (1983); Wajcman et al. (1989); Wajcman et
|
|
al. (1990); Wajcman et al. (1992); Wajcman et al. (1993); Wajcman et
|
|
al. (1990); Weatherall and Clegg (1979); Zimmer et al. (1980)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abbes, S., M'Rad, A., Fitzgerald, P. A., Dormer, P., Blouquit, Y., Kister, J., Galacteros, F., Wajcman, H.
|
|
<strong>Hb Al-Ain Abu Dhabi [alpha-18 (A16) gly-to-asp]: a new hemoglobin variant discovered in an Emiratee family.</strong>
|
|
Hemoglobin 16: 355-362, 1992.
|
|
|
|
|
|
[PubMed: 1428941]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630269209005687]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abdo, M. Z.
|
|
<strong>Hb Setif (alpha94(G1)asp-to-tyr) in a Saudi Arabian family.</strong>
|
|
Hemoglobin 13: 737-742, 1989.
|
|
|
|
|
|
[PubMed: 2634670]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268908998847]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abramov, A., Lehmann, H., Robb, L.
|
|
<strong>Hb Shaare Zedek (alpha56 E5 lys-to-glu).</strong>
|
|
FEBS Lett. 113: 235-237, 1980.
|
|
|
|
|
|
[PubMed: 7389895]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-5793(80)80599-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Garel, M. C., Goossens, M., Oudart, J. L., Blouquit, Y., Thillet, J., Rosa, J.
|
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<strong>Hemoglobin Dakar = Hb Grady: demonstration by a new approach to the analysis of the tryptic core region of the alpha chain and oxygen equilibrium properties.</strong>
|
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Biochim. Biophys. Acta 453: 459-471, 1976.
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[PubMed: 999899]
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|
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[Full Text: https://doi.org/10.1016/0005-2795(76)90141-0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gerald, P. S., Cook, C. D., Diamond, L. K.
|
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<strong>Hemoglobin M.</strong>
|
|
Science 126: 300-301, 1957.
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[PubMed: 13454817]
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[Full Text: https://doi.org/10.1126/science.126.3268.300]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gerald, P. S., Efron, M. L.
|
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<strong>Chemical studies of several varieties of Hb M.</strong>
|
|
Proc. Nat. Acad. Sci. 47: 1758-1767, 1961.
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|
|
[PubMed: 13897827]
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|
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[Full Text: https://doi.org/10.1073/pnas.47.11.1758]
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gerhard, D. S., Kawasaki, E. S., Bancroft, F. C., Szabo, P.
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<strong>Localization of a unique gene by direct hybridization in situ.</strong>
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Proc. Nat. Acad. Sci. 78: 3755-3759, 1981.
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|
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[PubMed: 6943581]
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[Full Text: https://doi.org/10.1073/pnas.78.6.3755]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Giordano, P. C., Fodde, R., Amons, R., Ploem, J. E., Bernini, L. F.
|
|
<strong>Hb J-Anatolia (alpha61(E10)lys-to-thr): structural characterization and gene localization of a new alpha chain variant.</strong>
|
|
Hemoglobin 14: 119-128, 1990.
|
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|
|
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[PubMed: 2272835]
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[Full Text: https://doi.org/10.3109/03630269009046953]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Giordano, P. C., Harteveld, C. L., Kok, P. J. M. J., Geenen, A., Batelaan, D., Amons, R., Bernini, L. F.
|
|
<strong>Hb Gouda (alpha72(EF1)his-to-gln), a new silent alpha-chain variant.</strong>
|
|
Hemoglobin 20: 21-29, 1996.
|
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|
|
|
|
[PubMed: 8745429]
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[Full Text: https://doi.org/10.3109/03630269609027907]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Girodon, E., M'Rad, A., Martin, J., Goossens, M., Galacteros, F., Rosa, J., Gisselbrecht, C., Boiron, M., Cohen, I. J., Jaber, L., Tamari, H., Goshen, J., Zaizov, R., Wajcman, H.
|
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<strong>Hb Taybe (alpha 38 or 39 THR deleted): a new unstable alpha chain hemoglobin variant. (Abstract)</strong>
|
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Blood 80 (suppl. 1): 388a, 1992.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gonzalez Redondo, J. M., Wilson, J. B., Kutlar, A., Huisman, T. H. J., Sicilia, A., Romero, C., Fernandes Fuertes, I.
|
|
<strong>Hb J-Pontoise or alpha63(E12)ala-to-asp in four members of a Spanish family.</strong>
|
|
Hemoglobin 11: 47-50, 1987.
|
|
|
|
|
|
[PubMed: 3583765]
|
|
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|
|
|
[Full Text: https://doi.org/10.3109/03630268709036582]
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Goossens, M., Dozy, A. M., Embury, S. H., Zachariadis, Z., Hadjiminas, M. G., Stamatoyannopoulos, G., Kan, Y. W.
|
|
<strong>Triplicated alpha-globin loci in humans.</strong>
|
|
Proc. Nat. Acad. Sci. 77: 518-521, 1980.
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|
|
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[PubMed: 6928643]
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|
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[Full Text: https://doi.org/10.1073/pnas.77.1.518]
|
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Gottlieb, A. J., Restrepo, A., Itano, H. A.
|
|
<strong>Hb J (Medellin). Chemical and genetic study.</strong>
|
|
Fed. Proc. 23: 172, 1964.
|
|
|
|
</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Griffiths, K. D., Lang, A., Lehmann, H., Mann, J. R., Plowman, D., Raine, D. N.
|
|
<strong>Haemoglobin Handsworth alpha 18 glycine-to-arginine.</strong>
|
|
FEBS Lett. 75: 93-95, 1977.
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|
|
|
|
|
[PubMed: 852596]
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|
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[Full Text: https://doi.org/10.1016/0014-5793(77)80060-4]
|
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Groff, P., Galacteros, F., Kalmes, G., Blouquit, Y., Wajcman, H.
|
|
<strong>HB Luxembourg (alpha24(B5)tyr-to-his): a new unstable variant.</strong>
|
|
Hemoglobin 13: 429-436, 1989.
|
|
|
|
|
|
[PubMed: 2599879]
|
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|
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[Full Text: https://doi.org/10.3109/03630268908998082]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Guis, M., Mentzer, W. C., Jue, D. L., Johnson, M. H., McGuffey, J. E., Moo-Penn, W. F.
|
|
<strong>Hemoglobin Twin Peaks: alpha113(GH1) leu-to-his.</strong>
|
|
Hemoglobin 9: 175-177, 1985.
|
|
|
|
|
|
[PubMed: 3839772]
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|
|
[Full Text: https://doi.org/10.3109/03630268508996999]
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|
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|
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hamaguchi, K., Harano, K., Harano, T., Sakata, T.
|
|
<strong>Hb Oita (alpha-45(CE3)his-to-pro): a new silent hemoglobin variant.</strong>
|
|
Hemoglobin 22: 347-354, 1998. Note: Erratum: Hemoglobin 22: 539-540, 1998.
|
|
|
|
|
|
[PubMed: 9730365]
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[Full Text: https://doi.org/10.3109/03630269809071529]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Hanada, M., Ohta, Y., Imamura, T., Fejimura, T., Kawasaki, K., Kosaka, K., Yamaoka, K., Seita, M.
|
|
<strong>Studies of abnormal hemoglobins in western Japan. (Abstract)</strong>
|
|
Jpn. J. Hum. Genet. 9: 253-254, 1964.
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|
|
|
</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hanada, M., Rucknagel, D. L.
|
|
<strong>The characterization of hemoglobin Shimonoseki.</strong>
|
|
Blood 24: 624-635, 1964.
|
|
|
|
|
|
[PubMed: 14236737]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hansen, H. A., Jagenburg, O. R., Johansson, B. G.
|
|
<strong>Studies on an abnormal hemoglobin causing hereditary congenital cyanosis.</strong>
|
|
Acta Paediatr. (Stockh.) 49: 503-511, 1960.
|
|
|
|
|
|
[PubMed: 14399582]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1960.tb07765.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, K., Harano, T., Shibata, S., Mori, H., Ueda, S., Imai, K., Ohba, Y., Irimajiri, K.
|
|
<strong>Hb J Oxford (alpha15 (A13) gly-to-asp) in Japan.</strong>
|
|
Hemoglobin 8: 197-198, 1984.
|
|
|
|
|
|
[PubMed: 6469697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268408991714]
|
|
|
|
|
|
</p>
|
|
</li>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Hong, Y.-F., Than, A. M., Suetsugu, Y., Ohba, K.
|
|
<strong>The mutation of Hb Turriff (alpha-99(G6)lys-to-glu (AAG-GAG)) is carried by the alpha-1-globin gene in a Japanese (Hb Turriff-I).</strong>
|
|
Hemoglobin 27: 123-127, 2003.
|
|
|
|
|
|
[PubMed: 12779275]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1081/hem-120021547]
|
|
|
|
|
|
</p>
|
|
</li>
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|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Imai, K., Terunuma, S.
|
|
<strong>Hb Swan River (alpha6(A4)asp-to-gly) observed in a Japanese man.</strong>
|
|
Hemoglobin 20: 75-78, 1996.
|
|
|
|
|
|
[PubMed: 8745434]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630269609027912]
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|
|
|
|
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</p>
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|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Imai, N., Ueda, S., Seki, M.
|
|
<strong>An electrophoretically silent hemoglobin variant, Hb Hekinan (alpha27 (B8) glu-to-asp) found in a Japanese.</strong>
|
|
Hemoglobin 12: 61-65, 1988.
|
|
|
|
|
|
[PubMed: 3384699]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268808996883]
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|
|
|
|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M.
|
|
<strong>Hb Handa (alpha90 (FG2) lys-to-met): structure and biosynthesis of a new slightly higher oxygen affinity variant.</strong>
|
|
Hemoglobin 6: 379-389, 1982.
|
|
|
|
|
|
[PubMed: 6815131]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268208996943]
|
|
|
|
|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Seki, M.
|
|
<strong>Hemoglobin Tokoname (alpha139 (HC 1) lys-to-thr): a new hemoglobin variant with a slightly increased oxygen affinity.</strong>
|
|
Hemoglobin 7: 85-90, 1983.
|
|
|
|
|
|
[PubMed: 6188720]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268309038404]
|
|
|
|
|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Uchida, E., Horiuchi, K.
|
|
<strong>Hb Le Lamentin (alpha20 (B1) his-to-gln) in Japan: structure, function and biosynthesis.</strong>
|
|
Hemoglobin 7: 181-184, 1983.
|
|
|
|
|
|
[PubMed: 6671903]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268309048645]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Yamada, H., Seki, M., Fukui, H.
|
|
<strong>Hemoglobin Kariya (alpha40 (C5) lys-to-glu) a new hemoglobin variant with an increased oxygen affinity.</strong>
|
|
FEBS Lett. 153: 332-334, 1983.
|
|
|
|
|
|
[PubMed: 6137414]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-5793(83)80636-x]
|
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|
|
|
|
</p>
|
|
</li>
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|
<li>
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Imai, K.
|
|
<strong>Hb Chesapeake (alpha92 (FG4) arg-to-leu) and Hb J Cape Town (alpha92 (FG4) arg-to-gln) first discovered in Japanese.</strong>
|
|
Hemoglobin 7: 461-465, 1983.
|
|
|
|
|
|
[PubMed: 6629827]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268309038415]
|
|
|
|
|
|
</p>
|
|
</li>
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|
<li>
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|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., Seki, M.
|
|
<strong>Hemoglobin Aichi (alpha50 (CE8) his-to-arg): a new slightly unstable hemoglobin variant discovered in Japan.</strong>
|
|
FEBS Lett. 169: 297-299, 1984.
|
|
|
|
|
|
[PubMed: 6714429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-5793(84)80337-3]
|
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|
|
|
</p>
|
|
</li>
|
|
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|
<li>
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Ueda, S., Shibata, S., Imai, K., Ohba, Y., Shinohara, T., Horio, S., Nishioka, K., Shirotani, H.
|
|
<strong>Hemoglobin Kawachi (alpha 44 (CE2) pro-to-arg): a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha(1)-beta(2) contact.</strong>
|
|
Hemoglobin 6: 43-49, 1982.
|
|
|
|
|
|
[PubMed: 7068434]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268208996932]
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|
|
|
|
|
</p>
|
|
</li>
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|
<li>
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<p class="mim-text-font">
|
|
Harano, T., Harano, K., Ueda, S.
|
|
<strong>Hb Owari (alpha121 (H4) val-to-met): a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing.</strong>
|
|
Hemoglobin 10: 127-134, 1986.
|
|
|
|
|
|
[PubMed: 3754245]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630268609046439]
|
|
|
|
|
|
</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Harano, T., Harano, K., Uehara, S., Matsushita, K.
|
|
<strong>Two new alpha chain variants: Hb Fuchu-I (alpha-72(EF1)his-to-tyr) and Hb Fuchu-II (alpha-97(G4)asn-to-his).</strong>
|
|
Hemoglobin 19: 389-395, 1995.
|
|
|
|
|
|
[PubMed: 8718697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630269509005830]
|
|
|
|
|
|
</p>
|
|
</li>
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|
<li>
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<p class="mim-text-font">
|
|
Hardison, R. C., Sawada, I., Cheng, J.-F., Shen, C.-K. J., Schmid, C. W.
|
|
<strong>A previously undetected pseudogene in the human alpha globin gene cluster.</strong>
|
|
Nucleic Acids Res. 14: 1903-1911, 1986.
|
|
|
|
|
|
[PubMed: 3952001]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/14.4.1903]
|
|
|
|
|
|
</p>
|
|
</li>
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|
<li>
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<p class="mim-text-font">
|
|
Harteveld, C. L., Rozendaal, L., Blom, N. A., Lo-A-Njoe, S., Akkerman, N., Arkestijn, S., Van Delft, P., Giordano, P. C.
|
|
<strong>Hb Oegstgeest (alpha-104(G11)cys-to-ser(alpha-1)): a new hemoglobin variant associated with a mild alpha-thalassemia phenotype.</strong>
|
|
Hemoglobin 29: 165-169, 2005.
|
|
|
|
|
|
[PubMed: 16114179]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1081/hem-200066293]
|
|
|
|
|
|
</p>
|
|
</li>
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|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Harteveld, C. L., Van Delft, P., Akkermans, N., Arkesteijn, S., Van Rooijen-Nijdam, I. H., Kok, P. J. M. J., Versteegh, F. G. A., Giordano, P. C.
|
|
<strong>Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], observed solely and in the presence of an Hb S [beta-6(A3)glu-to-val] heterozygosity.</strong>
|
|
Hemoglobin 28: 223-227, 2004.
|
|
|
|
|
|
[PubMed: 15481890]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1081/hem-200029150]
|
|
|
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|
|
</p>
|
|
</li>
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<li>
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<p class="mim-text-font">
|
|
Harteveld, C. L., Van Delft, P., Plug, R. J., Erjavec, Z., Wajcman, H., Giordano, P. C.
|
|
<strong>Hb Delfzicht [alpha-9(A7)asn-to-lys (alpha-1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient.</strong>
|
|
Hemoglobin 26: 181-184, 2002.
|
|
|
|
|
|
[PubMed: 12144062]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1081/hem-120005457]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Harteveld, C. L., Wijermans, P. W., de Ree, J. E. L. M., Ter Hal, P., Van Delft, P., Van Rooijen-Nijdam, I. H., Rasp, E., Kok, P. J. M. J., Souverijn, J. H. M., Versteegh, F. G. A., Giordano, P. C.
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<strong>A new Hb Evanston allele (alpha-14(A12)trp-to-arg) found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.</strong>
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Hemoglobin 28: 1-5, 2004.
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[PubMed: 15008259]
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<strong>Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha-globin gene cluster.</strong>
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[PubMed: 2364173]
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<strong>Hemoglobin Guizhou in Japan.</strong>
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[PubMed: 3839774]
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<strong>Hemoglobin M (Osaka), a new variant of hemoglobin M.</strong>
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Jpn. J. Hum. Genet. 9: 87-94, 1964.
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[PubMed: 5893086]
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<strong>Hb Etobicoke, alpha85(F5) ser-to-arg found in a newborn of French-Indian-English descent.</strong>
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<strong>Hemoglobin M (Kankakee), a new variant of hemoglobin M.</strong>
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Blood 20: 287-301, 1962.
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[PubMed: 13906251]
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<strong>Hb Evanston (alpha 14 trp-to-arg): a new variant with thalassemia-like hematologic expression. (Abstract)</strong>
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<strong>Hemoglobin Petah Tikva (alpha 110 ala-to-asp): a new unstable variant with alpha-thalassemia-like expression.</strong>
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[PubMed: 7470621]
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<strong>Hemoglobin Milledgeville (alpha44 (CD2) pro-to-leu): a new variant with increased oxygen affinity.</strong>
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<strong>Hemoglobin M Iwate is caused by a C-to-T transition in codon 87 of the human alpha-1-globin gene.</strong>
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<strong>A new fast-moving hemoglobin variant, Hb J-Tashikuergan alpha19 (AB1) ala-to-glu.</strong>
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<strong>Three new variants of the alpha-1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha-44(CE2)pro-to-ala (alpha-1)]; Hb Buffalo [alpha-89(FG1)his-to-gln (alpha-1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha-95(G2)pro-to-gln (alpha-1)]; and a second, unrelated, case of Hb Roubaix [alpha-55(E4)val-to-leu (alpha-1)].</strong>
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<strong>Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha-40(C5)lys-to-asn (alpha-1)], Hb Santa Clara [beta-97(FG4)his-to-asn], and Hb Sparta [beta-103(G5)phe-to-val].</strong>
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Iuchi, I., Shimasaki, S., Hidaka, K., Harano, T., Ueda, S., Shibata, S., Mizushima, J., Kubo, N.
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<strong>Hemoglobin Mizushi (alpha75 EF4 asp-to-gly): a new hemoglobin variant observed in a Japanese family.</strong>
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Hemoglobin 4: 209-214, 1980.
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[PubMed: 7390865]
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Jarman, A. P., Higgs, D. R.
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<strong>A new hypervariable marker for the human alpha-globin gene cluster.</strong>
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[PubMed: 2901223]
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<p class="mim-text-font">
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Jen, P. C., Liu, Y.
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<strong>Hemoglobin Guangzhou, alpha64 (E3) asp-to-gly, a new abnormal hemoglobin found in Guangzhou, China.</strong>
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Hemoglobin 11: 25-30, 1987.
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[PubMed: 3454663]
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<strong>Chemical characterization of hemoglobin Mexico and hemoglobin Chiapas.</strong>
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<strong>The chemical structure of hemoglobin Mexico determined by automatic peptide chromatography and subunit hybridization.</strong>
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Jue, D. L., Johnson, M. H., Patchen, L. C., Moo-Penn, W. F.
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<strong>Hemoglobin Dunn: alpha6 aspartic acid-to-asparagine.</strong>
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Hemoglobin 3: 137-143, 1979.
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[PubMed: 478975]
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[Full Text: https://doi.org/10.3109/03630267908998909]
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<strong>Hb Savaria or alpha49(CE7)ser-to-arg in a Yugoslavian family.</strong>
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Hemoglobin 9: 631-633, 1985.
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[PubMed: 3937826]
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Kamuzora, H., Lehmann, H.
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<strong>A new hemoglobin variant. Hemoglobin J (Birmingham): alpha 120 (H3) ala-to-glu.</strong>
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Ann. Clin. Biochem. 11: 53-55, 1974.
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<strong>Molecular basis of hemoglobin-H disease in the Mediterranean population.</strong>
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Blood 54: 1434-1438, 1979.
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[PubMed: 508946]
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<strong>Prenatal diagnosis of alpha-thalassemia: clinical application of molecular hybridization.</strong>
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[PubMed: 980019]
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[Full Text: https://doi.org/10.1056/NEJM197611182952104]
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<strong>Hb Anamosa or alpha(2)-111(G18)ala--val-beta2 (alpha2 mutation) and Hb Mulhacen or alpha(2)-123(H6)ala--ser-beta2 (alpha1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.</strong>
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Hemoglobin 19: 1-6, 1995.
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[PubMed: 7615398]
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Kendall, A. G., Barr, R. D., Lang, A., Lehmann, H.
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<strong>Hemoglobin J (Nyanza) alpha 21 (B2) ala-to-asp.</strong>
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[PubMed: 4719146]
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<strong>Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse.</strong>
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<strong>Hemoglobin O-Padova or alpha30(B11)glu-to-lys observed in members of a Turkish family.</strong>
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[PubMed: 2869010]
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<strong>Hemoglobin Roanne (alpha94(G1)asp-to-glu): a variant of the alpha-1 beta-2 interface with an unexpected high oxygen affinity.</strong>
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[PubMed: 7811728]
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<strong>Hemoglobin Bibba or alpha(2)136 pro beta(2), an unstable alpha chain abnormal hemoglobin.</strong>
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[PubMed: 5639009]
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[Full Text: https://doi.org/10.1016/0005-2795(68)90274-2]
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<strong>Hemoglobin Moabit: alpha 86 (F7) leu-to-arg: a new unstable abnormal hemoglobin.</strong>
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Acta Haemat. 61: 121-124, 1979.
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[PubMed: 108887]
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<strong>Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16.</strong>
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<strong>Hemoglobin F Koelliker (alpha-2-minus 141 (HC3) arg-to-gamma-2): a modification of fetal hemoglobin.</strong>
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[PubMed: 893128]
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[PubMed: 13752954]
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<strong>Hemoglobin Memphis: a new variety of sickle cell anemia with symptoms due to an alpha-chain variant hemoglobin (alpha23 glu).</strong>
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[PubMed: 6082248]
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[PubMed: 4225368]
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[PubMed: 5128292]
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<strong>Two new alpha chain variants: Hb Die (alpha-93(FG5)val-to-ala (alpha-1)) and Hb Beziers [alpha-99(G6)lys-to-asn (alpha-1)].</strong>
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<strong>Two new alpha chain variants: Hb Boghe (alpha-58(E7)his-to-gln, alpha-2), a variant on the distal histidine, and Hb Charolles (alpha-103(G10)his-to-tyr, alpha-1).</strong>
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Hemoglobin 23: 345-352, 1999.
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[PubMed: 10569723]
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<strong>Hb Guangzhou-Hangzhou or alpha64(E13)asp-to-gly observed in members of a Chinese family living in Xinjiang.</strong>
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Hemoglobin 14: 441-444, 1990.
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[PubMed: 2283298]
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[Full Text: https://doi.org/10.3109/03630269009032004]
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</p>
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<li>
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<p class="mim-text-font">
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Li, H., Zhao, X., Qin, F., Li, H., Li, L., He, X., Chang, X., Li, Z., Liang, K., Xing, F., Chang, W., Wong, R., Yang, I., Li, F., Zhang, T., Tian, R., Webber, B. B., Wilson, J. B., Huisman, T. H. J.
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<strong>Abnormal hemoglobins in the Silk Road region of China.</strong>
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Hum. Genet. 86: 231-235, 1990.
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[PubMed: 2265836]
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[Full Text: https://doi.org/10.1007/BF00197711]
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</p>
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<li>
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<p class="mim-text-font">
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Liang, C., Tao, H., Lo, H., Huang, S., Li, R., Wang, B.
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<strong>Hemoglobin Shuangfeng (alpha27 (B8) glu-to-lys): a new unstable hemoglobin variant.</strong>
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Hemoglobin 5: 691-700, 1981.
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[PubMed: 7338471]
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[Full Text: https://doi.org/10.3109/03630268108991837]
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</p>
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<li>
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<p class="mim-text-font">
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Liang, C.-C., Chen, S., Yang, K., Jia, P., Ma, Y., Li, T., Ni, X., Wang, X., Deng, Q., Yao, S.
|
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<strong>Hemoglobin Beijing (alpha16 (A14) lys-to-asn): a new fast-moving hemoglobin variant.</strong>
|
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Hemoglobin 6: 629-633, 1982.
|
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[PubMed: 7161110]
|
|
|
|
|
|
|
|
</p>
|
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<li>
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<p class="mim-text-font">
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Liang, C.-C., Chen, S.-S., Jia, P.-C., Wang, L.-F., Luo, H.-Y., Liu, G.-Y., Liang, S., Lung, G.-F., Yu, C.-M., Zuang, L.-Z., Liant, B.-L., Tang, Z.-N.
|
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<strong>Hemoglobin Duan (alpha75(EF4) asp-to-ala), a new variant found in China.</strong>
|
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Hemoglobin 5: 481-486, 1981.
|
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[PubMed: 7275664]
|
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</p>
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<p class="mim-text-font">
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Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y. J., Kutlar, F., Wilson, J. B., Webber, B. B., Hu, H., Huisman, T. H. J.
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<strong>Hb Duan (alpha-75(EF4)asp-to-ala), Hb Westmead (alpha-122(H5)his-to-gln), and alpha-thalassemia-2 (-4.2 kb deletion) in a Chinese family.</strong>
|
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Hemoglobin 12: 13-21, 1988.
|
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[PubMed: 3384694]
|
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[Full Text: https://doi.org/10.3109/03630268808996878]
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<p class="mim-text-font">
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Lie-Injo, L. E., Dozy, A. M., Kan, Y. W., Lopes, M., Todd, D.
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<strong>The alpha-globin gene adjacent to the gene for Hb Q (alpha 74 asp-to-his) is deleted, but not that adjacent to the gene for Hb G (alpha 30 glu-to-gln); three-fourths of the alpha-globin genes are deleted in Hb Q-alpha-thalassemia.</strong>
|
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Blood 54: 1407-1416, 1979.
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[PubMed: 508945]
|
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<p class="mim-text-font">
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Lie-Injo, L. E., Pillay, R. P., Thuraisingham, V.
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<strong>Further cases of haemoglobin Q-H disease (Hb Q-alpha thalassemia).</strong>
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Blood 28: 830-839, 1966.
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[PubMed: 5960254]
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<p class="mim-text-font">
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Lie-Injo, L. E., Sadono, (NI).
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<strong>Haemoglobin O (Buginese X) in Sulawesi.</strong>
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Brit. Med. J. 1: 1461-1462, 1958.
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[PubMed: 13536534]
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[Full Text: https://doi.org/10.1136/bmj.1.5085.1461]
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Liebhaber, S. A., Cash, F. E., Ballas, S. K.
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<strong>Human alpha-globin gene expression: the dominant role of the alpha(2)-locus in mRNA and protein synthesis.</strong>
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[PubMed: 3771577]
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Liebhaber, S. A., Cash, F. E.
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<strong>Locus assignment of alpha-globin structural mutations by hybrid-selected translation.</strong>
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J. Clin. Invest. 75: 64-70, 1985.
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[PubMed: 2981252]
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Liebhaber, S. A., Goossens, M. J., Kan, Y. W.
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<strong>Cloning and complete nucleotide sequence of human 5(prime)-alpha-globin gene.</strong>
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Proc. Nat. Acad. Sci. 77: 7054-7058, 1980.
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[PubMed: 6452630]
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[Full Text: https://doi.org/10.1073/pnas.77.12.7054]
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Liebhaber, S. A., Goossens, M., Kan, Y. W.
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<strong>Homology and concerted evolution at the alpha-1 and alpha-2 loci of human alpha-globin.</strong>
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Nature 290: 26-29, 1981.
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[PubMed: 7010180]
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Liebhaber, S. A., Griese, E.-U., Weiss, I., Cash, F. E., Ayyub, H., Higgs, D. R., Horst, J.
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<strong>Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.</strong>
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[PubMed: 1701260]
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Liebhaber, S. A., Rappaport, E. F., Cash, F. E., Ballas, S. K., Schwartz, E., Surrey, S.
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<strong>Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.</strong>
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Science 226: 1449-1451, 1984.
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[PubMed: 6505702]
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[Full Text: https://doi.org/10.1126/science.6505702]
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Liu, G.-Y., Zhang, G.-X., Nie, S.-Y., Luo, H.-Y., Teng, Y.-Q., Liu, S.-P., Song, M., Son, L., Chen, S.-S., Jia, P.-C., Liang, C.-C.
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<strong>A case of hemoglobin Iwate (alpha87(F8)his-to-arg) in China.</strong>
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Hemoglobin 7: 279-282, 1983.
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[PubMed: 6874376]
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Lorkin, P. A., Charlesworth, D., Lehmann, H., Rahbar, S., Tuchinda, S., Lie-Injo, L. E.
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<strong>Two haemoglobins Q, alpha 74 (EF3) and alpha 75 (EF4) aspartic acid to histidine.</strong>
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Brit. J. Haemat. 19: 117-125, 1970.
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[PubMed: 5460202]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1970.tb01607.x]
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Lorkin, P. A., Huntsman, R. G., Ager, J. A. M., Lehmann, H., Vella, F., Dakbre, P. D.
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<strong>Hemoglobin G (Norfolk): alpha 85 (F6) asp-to-asn.</strong>
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Biochim. Biophys. Acta 379: 22-27, 1975.
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[PubMed: 1115797]
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[Full Text: https://doi.org/10.1016/0005-2795(75)90004-5]
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Lu, Y.-Q., Liu, J.-F., Huang, C.-H., Huang, P.-Y., Hu, H.-L., Peng, X.-H., Chen, S.-S., Jia, P.-C., Yang, K.-G., Liang, C.-C., Zuo, C.-R.
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<strong>Hemoglobin Lille (alpha74 (EF3) asp-to-ala): the first instance in China.</strong>
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Hemoglobin 8: 523-527, 1984.
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[PubMed: 6500991]
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Maggio, A., Massa, A., Giampaolo, A., Mavilio, F., Tentori, L.
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<strong>Occurrence of Hb M Iwate (alpha 87 his-to-tyr) in an Italian carrier.</strong>
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Hemoglobin 5: 205-208, 1981.
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[PubMed: 7216821]
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[Full Text: https://doi.org/10.3109/03630268108996927]
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Malcorra-Azpiazu, J. J., Balda-Aguirre, M. I., Diaz-Chico, J. C., Kutlar, F., Kutlar, A., Wilson, J. B., Hu, H., Huisman, T. H. J.
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<strong>Hb Le Lamentin or alpha20 (B1) his-to-gln found in a Spanish family.</strong>
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Hemoglobin 12: 201-205, 1988.
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[PubMed: 3384713]
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[Full Text: https://doi.org/10.3109/03630268808998028]
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Mamalaki, A., Horanyi, M., Szelenyi, J., Moschonas, N. K.
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<strong>Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha-1 and alpha-2-globin cDNAs.</strong>
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[PubMed: 2227935]
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Marengo-Rowe, A. J., Beale, D., Lehmann, H.
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<strong>New human hemoglobin variant from southern Arabia: G-Audhali (alpha-23(b4) glutamic acid-valine) and the variability of B4 in human haemoglobin.</strong>
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Nature 219: 1164-1166, 1968.
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[PubMed: 5675638]
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Marinucci, M., Mavilio, F., Massa, A., Gabbianelli, M., Fontanarosa, P. P., Camagna, A., Ignesti, C., Tentori, L.
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<strong>A new abnormal human hemoglobin: Hb Prato (alpha31 arg-to-ser).</strong>
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Biochim. Biophys. Acta 578: 534-540, 1979.
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[PubMed: 486536]
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[Full Text: https://doi.org/10.1016/0005-2795(79)90184-3]
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Marinucci, M., Mavilio, F., Tentori, L., Bestetti, A.
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<strong>Occurrence of Hb J Paris in an Italian family and recombination studies on the free abnormal alpha-chain.</strong>
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Hemoglobin 3: 465-469, 1979.
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[PubMed: 511586]
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Marinucci, M., Mavilio, F., Tentori, L., D'Erasmo, F., Colapietro, A., De Stasio, G., Di Fonzo, S.
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<strong>A new human hemoglobin variant: Hb Bari (alpha 45(CD3) his-to-gln).</strong>
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Biochim. Biophys. Acta 622: 315-319, 1980.
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[PubMed: 7378457]
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Marti, H. R., Beale, D., Lehmann, H.
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<strong>Haemoglobin Koelliker: a new acquired haemoglobin appearing after severe haemolysis: alpha-2 (minus 141 arg) beta-2.</strong>
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Acta Haemat. 37: 174-180, 1967.
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[PubMed: 4961849]
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[Full Text: https://doi.org/10.1159/000209067]
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Martin, G., Villegas, A., Calero, F., del Palacio, S., Lopez, J. C., Lopez, M., Espinos, D.
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<strong>Hb O Padova in a Spanish family.</strong>
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Acta Haemat. 84: 1-4, 1990.
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[PubMed: 2117321]
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Martinez, G., Lima, F., Residenti, C., Colombo, B.
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<strong>Hb J Camaguey alpha 141 (HC3) arg-to-gly: a new abnormal human hemoglobin.</strong>
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Hemoglobin 2: 47-52, 1978.
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[PubMed: 640841]
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Masala, B., Manca, L., Stangoni, A., Cuccuru, G. B., Wilson, J. B., Webber, B. B., Kutlar, A., Huisman, T. H. J.
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<strong>Hb Sassari or alpha126 (H9) asp-to-his observed in a family from northern Sardinia.</strong>
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Hemoglobin 11: 373-378, 1987.
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[PubMed: 3667323]
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[Full Text: https://doi.org/10.3109/03630268709042855]
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<strong>Hemoglobinopathies in Sardinia.</strong>
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Hemoglobin 16: 331-351, 1992.
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[PubMed: 1517114]
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<strong>Hemoglobin Legnano (alpha 141 (HC3) arg-to-leu): a new abnormal human hemoglobin with high oxygen affinity.</strong>
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Hemoglobin 2: 249-259, 1978.
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[PubMed: 701083]
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[Full Text: https://doi.org/10.3109/03630267809007070]
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Mayne, E. E., Elder, G. E., Lappin, T. R. J., Ferguson, L. A. K.
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<strong>Hb M Iwate (alpha87 his-to-tyr): de novo mutation in an Irish family.</strong>
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Hemoglobin 10: 205-208, 1986.
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[PubMed: 3957697]
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[Full Text: https://doi.org/10.3109/03630268609046445]
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<strong>Structural, functional, and subunit assembly properties of Hb Attleboro [alpha138(H21)ser-to-pro], a variant possessing a site mutation at a critical C-terminal residue.</strong>
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[PubMed: 2108715]
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[Full Text: https://doi.org/10.1021/bi00453a023]
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<p class="mim-text-font">
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Meloni, T., Pilo, G., Camardella, L., Cancedda, F., Lania, A., Pepe, G., Luzzatto, L.
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<strong>Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population).</strong>
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Blood 55: 1025-1032, 1980.
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[PubMed: 6155159]
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Meyering, C. A., Israels, A. L., Sebens, T., Huisman, T. H. J.
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<strong>Studies on the heterogeneity of hemoglobin. II. The heterogeneity of different human hemoglobin types in carboxymethyl cellulose and in amberlite irc-50 chromatography: quantitative aspects.</strong>
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Clin. Chim. Acta 5: 208-222, 1960.
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<p class="mim-text-font">
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Miyaji, T., Iuchi, I., Yamamoto, K., Ohba, Y., Shibata, S.
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<strong>Amino acid substitution of hemoglobin Ube 2 (alpha 68 asp): an example of successful application of partial hydrolysis of peptide with 5 percent acetic acid.</strong>
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Clin. Chim. Acta 16: 347-352, 1967.
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[PubMed: 6035181]
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[Full Text: https://doi.org/10.1016/0009-8981(67)90298-7]
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<p class="mim-text-font">
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Miyaji, T., Ueda, S., Shibata, S., Tamura, A., Sasaki, H.
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<strong>Further studies on the fingerprint of Hb M (Iwate).</strong>
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Acta Haemat. Jpn. 25: 169-175, 1962.
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[PubMed: 14474785]
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Miyashita, H., Hashimoto, K., Mohri, H., Ohokubo, T., Harano, T., Harano, K., Imai, K.
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<strong>Hb Kanagawa (alpha-40(C5)lys-to-met): a new alpha chain variant with an increased oxygen affinity.</strong>
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Hemoglobin 16: 1-10, 1992.
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[PubMed: 1634355]
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<strong>An initiation codon mutation (AUG-to-GUG) of the human alpha-1-globin gene: structural characterization and evidence for a mild thalassemic phenotype.</strong>
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[PubMed: 3680504]
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[Full Text: https://doi.org/10.1172/JCI113220]
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Moo-Penn, W. F., Baine, R. M., Jue, D. L., Johnson, M. H., McGuffey, J. E., Benson, J. M.
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<strong>Hemoglobin Evanston: alpha14(A12) trp-to-arg--a variant hemoglobin associated with alpha-thalassemia-2.</strong>
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Biochim. Biophys. Acta 747: 65-70, 1983.
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[PubMed: 6882779]
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[Full Text: https://doi.org/10.1016/0167-4838(83)90122-x]
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Moo-Penn, W. F., Bechtel, K. C., Johnson, M. H., Jue, D. L., Holland, S., Huff, C., Schmidt, R. M.
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<strong>Hemoglobin (Jackson) alpha 127 (H10) lys-to-asn.</strong>
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[PubMed: 949045]
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[Full Text: https://doi.org/10.1093/ajcp/66.2.453]
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<p class="mim-text-font">
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Moo-Penn, W. F., Jue, D. L., Baine, R. M.
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<strong>Hemoglobin J Rovigo (alpha 53 ala-to-asp) in association with beta thalassemia.</strong>
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Hemoglobin 2: 443-445, 1978.
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[PubMed: 31339]
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[Full Text: https://doi.org/10.3109/03630267809007078]
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<strong>Hemoglobin Queens: alpha34(B15) leu-to-arg structural and functional properties and its association with Hb E.</strong>
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[PubMed: 7158628]
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[Full Text: https://doi.org/10.1002/ajh.2830130408]
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Moo-Penn, W. F., Jue, D. L., Johnson, M. H., Therrell, B. L.
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<strong>Hemoglobin Swan River (alpha6(A4)asp-to-gly).</strong>
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Hemoglobin 11: 61-62, 1987.
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[PubMed: 3583768]
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[Full Text: https://doi.org/10.3109/03630268709036585]
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<strong>Hb Catonsville (glutamic acid inserted between pro-37 (C2) alpha and thr-38 (C3) alpha).</strong>
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[PubMed: 2574721]
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<strong>Hemoglobin Cubujuqui (alpha141 arg-to-ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin.</strong>
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[PubMed: 7338473]
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<strong>Thalassemia of intermediate severity resulting from the interaction between alpha- and beta-thalassemia.</strong>
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[PubMed: 745216]
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[PubMed: 1970975]
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Nakatsuji, T., Abraham, B. L., Lam, H., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Winnipeg or alpha75 (EF4) asp-to-tyr in a large Caucasian family living in Georgia, USA.</strong>
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Hemoglobin 7: 105-110, 1983.
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[PubMed: 6841125]
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[Full Text: https://doi.org/10.3109/03630268309038407]
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<strong>Hemoglobin Tottori (alpha59 (E8) glycine-to-valine): a new unstable hemoglobin.</strong>
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Hemoglobin 5: 427-439, 1981.
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[PubMed: 7275660]
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[Full Text: https://doi.org/10.3109/03630268108991818]
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Nakatsuji, T., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Cordele alpha47 (CE5) asp-to-ala, a mildly unstable variant observed in black twins.</strong>
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Hemoglobin 8: 37-46, 1984.
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[PubMed: 6547117]
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[Full Text: https://doi.org/10.3109/03630268408996959]
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<strong>Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)glu-to-asp (alpha-1)] and alpha-thalassemia in Thailand.</strong>
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Hemoglobin 28: 145-150, 2004.
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[PubMed: 15182057]
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<strong>Hemoglobin Strumica or alpha 112(G19) his-to-arg. (with an addendum: hemoglobin J-Paris-I, alpha 12(A10) ala-to-asp, in the same population).</strong>
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Biochim. Biophys. Acta 412: 181-186, 1975.
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[PubMed: 1191675]
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<strong>Etude clinique et biologique d'un cas d'hemoglobine hybride S-Stanleyville II (alpha 78 asn-to-lys, beta 6 glu-to-val).</strong>
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[PubMed: 6782549]
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<strong>Hemoglobin Setif (alpha 94 (G1) asp-to-tyr) in Iran--a report of 9 cases.</strong>
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[PubMed: 893131]
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<strong>A survey of cord bloods for abnormal hemoglobin, with further observations on hemoglobin I (Burlington).</strong>
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[PubMed: 14130347]
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Ohba, Y., Fujisawa, K., Imai, K., Leowattana, W., Tani, Y., Ami, M., Miyaji, T.
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<strong>A new alpha chain variant Hb Tonosho [alpha110(G17)ala-to-thr]: subunit dissociation during cation exchange chromatography for Hb A1c assay.</strong>
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Hemoglobin 14: 413-422, 1990.
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[PubMed: 2283295]
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[Full Text: https://doi.org/10.3109/03630269009032001]
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<p class="mim-text-font">
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Ohba, Y., Hattori, Y., Matsuoka, M., Miyaji, T., Fuyuno, K.
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<strong>Hb Kokura (alpha 47 (CE5) asp-to-gly): a slightly unstable variant.</strong>
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Hemoglobin 6: 69-74, 1982.
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[PubMed: 7068437]
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[Full Text: https://doi.org/10.3109/03630268208996936]
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<p class="mim-text-font">
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Ohba, Y., Imai, K., Uenaka, R., Ami, M., Fujisawa, K., Itoh, K., Hirakawa, K., Miyaji, T.
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<strong>Hb Miyano or alpha41(C6)thr-to-ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor.</strong>
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Hemoglobin 13: 637-647, 1989.
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[PubMed: 2634665]
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[Full Text: https://doi.org/10.3109/03630268908998841]
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<p class="mim-text-font">
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Ohba, Y., Miyaji, T., Matsuoka, M., Morito, M., Iuchi, I.
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<strong>Characterization of Hb Ube-4: alpha 116 (GH4) glu-to-ala.</strong>
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Hemoglobin 2: 181-186, 1978.
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[PubMed: 640856]
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[Full Text: https://doi.org/10.3109/03630267809074785]
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<p class="mim-text-font">
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Ohba, Y., Miyaji, T., Matsuoka, M., Takeda, I., Fukuba, Y., Shibata, S., Ohkura, K.
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<strong>Hemoglobin Matsue-Oki: alpha 75 (EF4) aspartic acid-to-asparagine.</strong>
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Hemoglobin 1: 383-388, 1977.
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[PubMed: 893135]
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[Full Text: https://doi.org/10.3109/03630267708996896]
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<p class="mim-text-font">
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Ohba, Y., Miyaji, T., Matsuoka, M., Yokoyama, M., Numakura, H., Nagata, K., Takebe, Y., Izumi, Y., Shibata, S.
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<strong>Hemoglobin Hirosaki (alpha 43(CE1) phe-to-leu), a new unstable variant.</strong>
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Biochim. Biophys. Acta 405: 155-160, 1975.
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[PubMed: 1182166]
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[Full Text: https://doi.org/10.1016/0005-2795(75)90325-6]
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<p class="mim-text-font">
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Ohba, Y., Miyaji, T., Matsuoka, M., Yokoyama, M.
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<strong>Further studies on hemoglobin Hirosaki: demonstration of its presence at low concentration.</strong>
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Hemoglobin 2: 281-286, 1978.
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[PubMed: 701086]
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[Full Text: https://doi.org/10.3109/03630267809007073]
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<p class="mim-text-font">
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Ohba, Y., Yamamoto, K., Kawata, R., Miyaji, T.
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<strong>Hyperunstable hemoglobin Toyama, alpha136 (H19) leu to arg detection and identification by in vitro biosynthesis with radioactive amino acids.</strong>
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Hemoglobin 11: 539-556, 1987.
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[PubMed: 2833478]
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[Full Text: https://doi.org/10.3109/03630268709027870]
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<p class="mim-text-font">
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Ohba, Y., Yoshinaka, H., Hattori, Y., Matsuoka, M., Miyaji, T.
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<strong>Hemoglobin J Habana found in a cord blood of a Japanese.</strong>
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Hemoglobin 7: 327-329, 1983.
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[PubMed: 6618889]
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[Full Text: https://doi.org/10.3109/03630268309052714]
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<strong>Hb Savaria or alpha(2)49(CE7) ser-to-arg in an indigenous female from Kenya.</strong>
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Hemoglobin 9: 197-200, 1985.
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[PubMed: 3839775]
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[Full Text: https://doi.org/10.3109/03630268508997004]
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<strong>Hemoglobin Kokura which was discovered in Kokura. (Abstract)</strong>
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23rd General Meeting of the Japanese Society of Hematology, Kyoto 1961.
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<p class="mim-text-font">
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<strong>The duplicated human alpha globin lie close together in cellular DNA.</strong>
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Proc. Nat. Acad. Sci. 75: 5950-5954, 1978.
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[PubMed: 282616]
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|
<strong>Hemoglobin Savaria--alpha49(CE7)ser-to-arg in the United States.</strong>
|
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Hemoglobin 9: 627-629, 1985.
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[PubMed: 3937825]
|
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[Full Text: https://doi.org/10.3109/03630268508997045]
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<p class="mim-text-font">
|
|
Sugihara, J., Imamura, T., Kagimoto, M., Matsuo, T., Yamada, H., Imoto, T., Yanase, T.
|
|
<strong>A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain.</strong>
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Biochim. Biophys. Acta 744: 119-120, 1983.
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[PubMed: 6403040]
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[Full Text: https://doi.org/10.1016/0167-4838(83)90349-7]
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<p class="mim-text-font">
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Sugihara, J., Imamura, T., Yamada, H., Imoto, T., Matsuo, T., Sumida, I., Yanase, T.
|
|
<strong>A new electrophoretic variant of hemoglobin (Ogi) in which a leucine residue is replaced by an arginine residue at position 34 of the alpha-chain.</strong>
|
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Biochim. Biophys. Acta 701: 45-48, 1982.
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[PubMed: 7055587]
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[Full Text: https://doi.org/10.1016/0167-4838(82)90310-7]
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<p class="mim-text-font">
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Sukumaran, P. K., Merchant, S. M., Desai, M. P., Wiltshire, B. G., Lehmann, H.
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<strong>Haemoglobin Q India (alpha-64 (E13) aspartic acid to histidine). Associated with beta-thalassemia observed in three Sindhi families.</strong>
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J. Med. Genet. 9: 436-442, 1972.
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[PubMed: 4646552]
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[Full Text: https://doi.org/10.1136/jmg.9.4.436]
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Sukumaran, P. K., Pik, C.
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<strong>Some observations on haemoglobin L(Bombay).</strong>
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Biochim. Biophys. Acta 104: 290-292, 1965.
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[PubMed: 5840408]
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Sumida, I., Ohta, Y., Imamura, T., Yanase, T.
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<strong>Hemoglobin Sawara: alpha 6 (A4) aspartic acid leads to alanine.</strong>
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Biochim. Biophys. Acta 322: 23-26, 1973.
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[PubMed: 4744335]
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<p class="mim-text-font">
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Sumida, I.
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<strong>Studies of abnormal hemoglobins in western Japan: frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha26ala-beta2) and hemoglobin Mugino (Hb L Ferrara; alpha247gly-beta2).</strong>
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Jpn. J. Hum. Genet. 19: 343-363, 1975.
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[PubMed: 1241593]
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Suzuki, T., Hayashi, A., Yamamura, Y., Enoki, Y., Tyuma, I.
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<strong>Functional abnormality of hemoglobin M (Osaka).</strong>
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Biochem. Biophys. Res. Commun. 19: 691-695, 1965.
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[PubMed: 5840695]
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Szelenyi, J. G., Horanyi, M., Foldi, J., Hudacsek, J., Istvan, L., Hollan, S. R.
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<strong>A new hemoglobin variant in Hungary: Hb Savaria-alpha 49 (CE7) ser-to-arg.</strong>
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Hemoglobin 4: 27-38, 1980.
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[PubMed: 7353957]
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Tamura, A.
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<strong>Black blood disease.</strong>
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Jpn. J. Hum. Genet. 9: 183-192, 1964.
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[PubMed: 5896605]
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Thillet, J., Blouquit, Y., Perrone, F., Rosa, J.
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<strong>Hemoglobin Pontoise: alpha 63 ala-to-asp (E12): a new fast moving variant.</strong>
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[PubMed: 849454]
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Thompson, R. B., Rau, P. J., Odom, J., Bell, W. N.
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<strong>The sickling phenomenon in a white male without Hb-S.</strong>
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Acta Haemat. 34: 347-353, 1965.
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[PubMed: 4956511]
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[Full Text: https://doi.org/10.1159/000209459]
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Tonz, O., Simon, H. A., Hasselfeld, W.
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<strong>Untersuchung einer grossen Haemoglobin-M-Sippe. Entdeckung eines neuen Blutfarbstoffes: Hb M-Oldenburg.</strong>
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Schweiz. Med. Wschr. 92: 1311-1313, 1962.
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[PubMed: 13985279]
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<strong>Mapping the alpha-globin genes in Hb J Mexico carriers.</strong>
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<strong>Hb Aghia Sophia (alpha-62(E11)val-to-0 (alpha-1)), an 'in-frame' deletion causing alpha-thalassemia.</strong>
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Trincao, C., de Melo, J. M., Lorkin, P. A., Lehmann, H.
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<strong>Haemoglobin J Paris in the south of Portugal (Algarve).</strong>
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[PubMed: 4971935]
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<strong>Hb Siam (alpha-15(A13)gly-to-arg(alpha-1) (GGT-to-CGT)) is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect.</strong>
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Hemoglobin 26: 77-81, 2002.
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Van Ros, G., Beale, D., Lehmann, H.
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<strong>Hemoglobin Stanleyville-II (alpha 78 asparagine to lysine).</strong>
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Brit. Med. J. 4: 92-93, 1968.
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[PubMed: 5696551]
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<strong>Characterization of a new alpha(0) thalassemia defect in the South African population.</strong>
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[PubMed: 3663510]
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<strong>Hemoglobin Thionville: an alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH(2) terminus.</strong>
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<strong>Hemoglobin Thionville: an alpha chain variant with substitution of a glutamic residue for valine NA-1 and having an extended N-terminus. (Abstract)</strong>
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Vella, F., Casey, R., Lehmann, H., Labossiere, A., Jones, T. G.
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<strong>Haemoglobin Ottawa: alpha 15 gly-to-arg.</strong>
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Biochim. Biophys. Acta 336: 25-29, 1974.
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Vella, F., Charlesworth, D., Lorkin, P. A., Lehmann, H.
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<strong>Hemoglobin Broussais: alpha 90 lys replaced by asn.</strong>
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Canad. J. Biochem. 48: 908-910, 1970.
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[PubMed: 5452727]
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Vella, F., Galbraith, P., Wilson, J. B., Wong, S. C., Folger, G. C., Huisman, T. H. J.
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<strong>Hemoglobin St. Claude or alpha 127 (H10) lys-to-thr.</strong>
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[PubMed: 4429670]
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[Full Text: https://doi.org/10.1016/0005-2795(74)90003-8]
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<strong>A haemoglobinopathy involving haemoglobin H and a new (Q) haemoglobin.</strong>
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[PubMed: 13510789]
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<strong>Hemoglobin Winnipeg.</strong>
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[PubMed: 4728965]
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Vettore, L., De Sandre, G., Di Iorio, E. E., Winterhalter, K. H., Lang, A., Lehmann, H.
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<strong>A new abnormal hemoglobin O Padova, alpha 30 (B11) glu-to-lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient.</strong>
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Blood 44: 869-878, 1974.
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[PubMed: 4429803]
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Virshup, D. M., Zinkham, W. H., Hine, T., Baine, R. M., Jue, D. L., Moo-Penn, W. F.
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<strong>Hemoglobin Catonsville: an unstable, high affinity variant with an insertion of glutamic acid between residues 37(pro) and 38 (thr) in the alpha chain. (Abstract)</strong>
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<p class="mim-text-font">
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<strong>Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis.</strong>
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[PubMed: 6316779]
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<strong>Regional localisation of the human alpha-globin genes. (Letter)</strong>
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[PubMed: 6114338]
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Wajcman, H., Belkhodja, O., Labie, D.
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<strong>Hb Setif: G1 (94) alpha--asp-to-tyr. A new chain hemoglobin variant with substitution of the residue involved in a hydrogen bond between unlike subunits.</strong>
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[PubMed: 4667378]
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<strong>HB Fontainebleau (alpha21(B2)ala-to-pro), a new silent mutant hemoglobin.</strong>
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[PubMed: 2599878]
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Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A. M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., Galacteros, F.
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<strong>Three new neutral alpha chain variants: Hb Bois Guillaume (alpha-65(E14)ala-to-val), Hb Mantes-La-Jolie (alpha-79(EF8)ala-to-thr), and Hb Mosella (alpha-111(G18)ala-to-thr).</strong>
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[PubMed: 8537232]
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<strong>A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha-135(H18)val-to-glu].</strong>
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[PubMed: 2347082]
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<strong>Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.</strong>
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[PubMed: 1511986]
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<p class="mim-text-font">
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Wajcman, H., Bost, M., Blouquit, Y., Prehu, C., Riou, J., Galacteros, F.
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<strong>Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras (alpha7(A5)lys-to-asn) and Hb Lisbon (alpha23(B4)glu-to-asp).</strong>
|
|
Hemoglobin 18: 427-432, 1994.
|
|
|
|
|
|
[PubMed: 7713746]
|
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|
|
[Full Text: https://doi.org/10.3109/03630269409045774]
|
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|
|
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
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Wajcman, H., Dahmane, M., Prehu, C., Costes, B., Prome, D., Arous, N., Bardakdjian-Michau, J., Riou, J., Ayache, K. C., Godart, C., Galacteros, F.
|
|
<strong>Haemoglobin J-Biskra: a new mildly unstable alpha-1 gene variant with a deletion of eight residues (alpha-50-57, alpha-51-58 or alpha-52-59) including the distal histidine.</strong>
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Brit. J. Haemat. 100: 401-406, 1998.
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[PubMed: 9488635]
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[Full Text: https://doi.org/10.1046/j.1365-2141.1998.00566.x]
|
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</p>
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<li>
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<p class="mim-text-font">
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Wajcman, H., Delaunay, J., Francina, A., Rosa, J., Galacteros, F.
|
|
<strong>Hemoglobin Nouakchott [alpha114(GH2)pro-to-leu]: a new hemoglobin variant displaying an unusual increase in hydrophobicity.</strong>
|
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Biochim. Biophys. Acta 998: 25-31, 1989.
|
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[PubMed: 2790052]
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[Full Text: https://doi.org/10.1016/0167-4838(89)90114-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Wajcman, H., Elion, J., Boissel, J. P., Labie, D., Jos, J., Girot, R.
|
|
<strong>A silent hemoglobin variant: hemoglobin Necker Enfants-Malades alpha 20 (B1) his-to-tyr.</strong>
|
|
Hemoglobin 4: 177-184, 1980.
|
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[PubMed: 7390863]
|
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[Full Text: https://doi.org/10.3109/03630268009042384]
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</p>
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<li>
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<p class="mim-text-font">
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Wajcman, H., Gombaud-Saintonge, G., Galacteros, F., Martha, M., Vertongen, F.
|
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<strong>Hb Belliard (alpha56 (E5) lys-to-asn): a new fast-moving alpha chain variant found in a subject of Spanish origin.</strong>
|
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Hemoglobin 13: 157-162, 1990.
|
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[PubMed: 4667378]
|
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[Full Text: https://doi.org/10.1016/0014-5793(72)80645-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Wajcman, H., Kister, J., Galacteros, F., Josifovska, O., Spielvogel, A., Nagel, R.L.
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<strong>Hb Montefiore [alpha126 (H9) asp-to-tyr]: an abnormal hemoglobin with high oxygen affinity and absence of cooperativity.. (Abstract)</strong>
|
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Blood 80 (suppl. 1): 82a, 1992.
|
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</p>
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<li>
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<p class="mim-text-font">
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Wajcman, H., Kister, J., M'Rad, A., Marden, M. C., Riou, J., Galacteros, F.
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<strong>Hb Val de Marne [alpha133 (H16) ser-to-arg]: a new hemoglobin variant with moderate increase in oxygen affinity..</strong>
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Hemoglobin 17: 407-417, 1993.
|
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[PubMed: 8294200]
|
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[Full Text: https://doi.org/10.3109/03630269308997495]
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<p class="mim-text-font">
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Wajcman, H., Kister, J., M'Rad, A., Soummer, A. M., Galacteros, F.
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<strong>Hb Cemenelum [alpha92 (FG4) arg-to-trp]: a hemoglobin variant of the alpha-1/beta-2 interface that displays a moderate increase in oxygen affinity.</strong>
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Ann. Hemat. 68: 73-76, 1994.
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[PubMed: 8148419]
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[Full Text: https://doi.org/10.1007/BF01715134]
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<p class="mim-text-font">
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Wajcman, H., Kister, J., Marden, M., Lahary, A., Monconduit, M., Galacteros, F.
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<strong>Hemoglobin Rouen (alpha140(HC2)tyr-to-his): alteration of the alpha chain C-terminal region and moderate increase in oxygen affinity.</strong>
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Biochim. Biophys. Acta 1180: 53-57, 1992.
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[PubMed: 1390944]
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[Full Text: https://doi.org/10.1016/0925-4439(92)90026-j]
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<p class="mim-text-font">
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<strong>Hb Godavari (alpha-95(G2)pro to thr): a neutral amino acid substitution in the alpha-1/beta-2 interface that modifies the electrophoretic mobility of hemoglobin.</strong>
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Hemoglobin 22: 11-22, 1998.
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[PubMed: 9494044]
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[Full Text: https://doi.org/10.3109/03630269809071513]
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<strong>Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha131 [H14] ser-to-pro) and Hb Caen (alpha132 [H15] val-to-gly).</strong>
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Am. J. Hemat. 42: 367-374, 1993.
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[PubMed: 8493987]
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Wajcman, H., Vasseur, C., Galacteros, F., Blouquit, Y., Rosa, J., Labie, D., Najman, A.
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<strong>Hb Questembert [alpha-131(H14)ser-to-pro]: a new highly unstable variant with unbalanced chain synthesis. (Abstract)</strong>
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Blood 76 (suppl. 1): 79a, 1990.
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<strong>Identification of two new alpha-thalassemia mutations in exon 2 of the alpha-1-globin gene.</strong>
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Hemoglobin 25: 391-396, 2001.
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[PubMed: 11791872]
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[Full Text: https://doi.org/10.1081/hem-100107876]
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Cell 16: 467-479, 1979.
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[PubMed: 378393]
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[Full Text: https://doi.org/10.1016/0092-8674(79)90022-9]
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<p class="mim-text-font">
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Webber, B. B., Lam, H., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Albany-GA or alpha11(A9)lys-to-asn.</strong>
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Hemoglobin 7: 257-262, 1983.
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[PubMed: 6860428]
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[Full Text: https://doi.org/10.3109/03630268309048654]
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Webber, B. B., Wilson, J. B., Gu, L.-H., Huisman, T. H. J.
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<strong>Hb Ethiopia or alpha140(HC2)tyr-to-his.</strong>
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Hemoglobin 16: 441-443, 1992.
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[PubMed: 1428951]
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[Full Text: https://doi.org/10.3109/03630269209005699]
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<strong>The linkage relationships of the haemoglobin beta, delta and alpha loci with 34 genetic marker systems.</strong>
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[PubMed: 921219]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1977.tb01962.x]
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Wilkie, A. O. M., Higgs, D. R., Rack, K. A., Buckle, V. J., Spurr, N. K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W. R. A., Harris, P. C.
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<strong>Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.</strong>
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[PubMed: 1991321]
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<strong>Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb Luton, alpha-89 his-to-leu) and alpha-thalassaemia trait.</strong>
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[PubMed: 1486044]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1992.tb06478.x]
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<strong>Nucleotide sequence of 3-prime untranslated portion of human alpha globin mRNA.</strong>
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Nucleic Acids Res. 4: 2353-2368, 1977.
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[PubMed: 909779]
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Wiltshire, B. G., Clark, K. G. A., Lorkin, P. A., Lehmann, H.
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<strong>Haemoglobin Denmark Hill (alpha 95 (G2) pro-to-ala), a variant with unusual electrophoretic and oxygen-binding properties.</strong>
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Biochim. Biophys. Acta 278: 459-464, 1972.
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[PubMed: 5085669]
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<strong>Identification of several rare hemoglobin variants discovered in a population survey including a new variant Hb Garden State alpha-82 ala-to-asp. (Abstract)</strong>
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<strong>Hb J-Singa (alpha-78 asn-to-asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 asn-to-asp, alpha-79 ala-to-gly).</strong>
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Biochim. Biophys. Acta 784: 187-188, 1984.
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[PubMed: 6691995]
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<strong>Studies on abnormal haemoglobins.</strong>
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<strong>Molecular basis of morbidity from a series of studies of hemoglobinopathies in western Japan.</strong>
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Jpn. J. Hum. Genet. 13: 40-53, 1968.
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[PubMed: 5750181]
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<strong>Hemoglobin Shenyang found among Uygurs in P.R. China.</strong>
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Hemoglobin 13: 97-99, 1989.
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[PubMed: 2703370]
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[Full Text: https://doi.org/10.3109/03630268908998059]
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<strong>Identification of hemoglobin G-Philadelphia (alpha68 asn-to-lys) and hemoglobin Matsue-Oki (alpha75 asp-to-asn) in a black infant.</strong>
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[PubMed: 6814490]
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[Full Text: https://doi.org/10.1016/0167-4838(82)90352-1]
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Yodsowan, B., Svasti, J., Srisomsap, C., Winichagoon, P., Fucharoen, S.
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<strong>Hb Siam [alpha-15(A13)gly-arg] is a GGT-CGT mutation in the alpha-1-globin gene.</strong>
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Hemoglobin 24: 71-75, 2000.
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[PubMed: 10722119]
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[Full Text: https://doi.org/10.3109/03630260009002277]
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Yongsuwan, S., Svasti, J., Fucharoen, S.
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<strong>Decreased heat stability found in purified hemoglobin Queens (alpha34(B15)leu-to-arg).</strong>
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Hemoglobin 11: 567-570, 1987.
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[PubMed: 3446653]
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[Full Text: https://doi.org/10.3109/03630268709027873]
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Zeng, F.-Y., Fucharoen, S., Huang, S.-Z., Rodgers, G. P.
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<strong>Hb Q-Thailand (alpha74 (EF3) asp-to-his): gene organization, molecular structure, and DNA diagnosis.</strong>
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Hemoglobin 16: 481-491, 1992.
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[PubMed: 1487419]
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[Full Text: https://doi.org/10.3109/03630269208993116]
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Zeng, Y., Huang, S., Liang, X., Long, G., Lam, H., Wilson, J. B., Huisman, T. H. J.
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<strong>Hb Wuming or alpha11 (A9) lys-to-gln.</strong>
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Hemoglobin 5: 679-687, 1981.
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[PubMed: 7338470]
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[Full Text: https://doi.org/10.3109/03630268108991835]
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Zeng, Y., Huang, S., Qiu, X., Cheng, G., Ren, Z., Jin, Q., Chen, C., Jiao, C., Tang, Z., Liu, R., Bao, X., Zeng, L., Duan, Y., Zhang, G.
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<strong>Hemoglobin Chongqing (alpha2 (NA2) leu-to-arg) and hemoglobin Harbin (alpha16 (A14) lys-to-met) found in China.</strong>
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Hemoglobin 8: 569-581, 1984.
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[PubMed: 6526652]
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[Full Text: https://doi.org/10.3109/03630268408991742]
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Zeng, Y., Huang, S., Zhou, X., Qiu, X., Dong, Q., Li, M., Bai, J.
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<strong>Hb Shenyang (alpha26 (B7) ala-to-glu): a new unstable variant found in China.</strong>
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Hemoglobin 6: 625-628, 1982.
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[PubMed: 7161109]
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</p>
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<p class="mim-text-font">
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Zhao, W., Wilson, J. B., Webber, B. B., Kutlar, A., Tamagnini, G. P., Kuam, B., Huisman, T. H. J.
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<strong>Hb Hekinan observed in three Chinese from Macau: identification of the GAG-to-GAT mutation in the alpha-1-globin gene.</strong>
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Hemoglobin 14: 627-635, 1990.
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[PubMed: 1983218]
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[Full Text: https://doi.org/10.3109/03630269009046971]
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</p>
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</li>
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<p class="mim-text-font">
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Zhou, Z., Chen, L., Chen, P., Zhang, K., Wang, Y.
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<strong>Hemoglobin Hangzhou alpha64 (E13) asp-to-gly: a new variant found in China.</strong>
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Hemoglobin 11: 31-33, 1987.
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[PubMed: 3583763]
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[Full Text: https://doi.org/10.3109/03630268709036578]
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</p>
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Zimmer, E. A., Martin, S. L., Beverley, S. M., Kan, Y. W., Wilson, A. C.
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<strong>Rapid duplication and loss of genes coding for the alpha chains of hemoglobin.</strong>
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Proc. Nat. Acad. Sci. 77: 2158-2162, 1980.
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[PubMed: 6929543]
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[Full Text: https://doi.org/10.1073/pnas.77.4.2158]
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Zwerdling, T., Williams, S., Nasr, S. A., Rucknagel, D. L.
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<strong>Hb Port Huron (alpha56(E5)lys-to-arg): a new alpha chain variant.</strong>
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Hemoglobin 15: 381-391, 1991.
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[PubMed: 1802882]
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[Full Text: https://doi.org/10.3109/03630269108998858]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Ada Hamosh - updated : 12/14/2012<br>Ada Hamosh - updated : 11/1/2012<br>Patricia A. Hartz - updated : 1/28/2010<br>Carol A. Bocchini - updated : 5/22/2009<br>Victor A. McKusick - updated : 9/19/2006<br>Ada Hamosh - updated : 7/21/2006<br>Victor A. McKusick - updated : 3/29/2006<br>Victor A. McKusick - updated : 10/11/2005<br>Victor A. McKusick - updated : 8/11/2005<br>Victor A. McKusick - updated : 5/11/2005<br>Victor A. McKusick - updated : 12/6/2004<br>Victor A. McKusick - updated : 8/6/2004<br>Victor A. McKusick - updated : 6/2/2004<br>Victor A. McKusick - updated : 1/20/2004<br>Victor A. McKusick - updated : 1/15/2004<br>Victor A. McKusick - updated : 9/2/2003<br>Victor A. McKusick - updated : 3/5/2003<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 6/3/2002<br>Victor A. McKusick - updated : 5/23/2002<br>Victor A. McKusick - updated : 2/27/2002<br>Victor A. McKusick - updated : 11/1/2001<br>Victor A. McKusick - updated : 10/11/2001<br>Victor A. McKusick - updated : 5/1/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 7/14/1999<br>Ada Hamosh - updated : 4/21/1999<br>Victor A. McKusick - updated : 2/24/1999<br>Victor A. McKusick - updated : 2/9/1999<br>Ada Hamosh - updated : 6/12/1998<br>Victor A. McKusick - updated : 4/30/1998<br>Victor A. McKusick - updated : 2/6/1998<br>Victor A. McKusick - updated : 8/27/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/1986
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