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Entry
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- *141850 - HEMOGLOBIN--ALPHA LOCUS 2; HBA2
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- OMIM
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<p>
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<span class="h4">*141850</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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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="#cloning">Cloning and Expression</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="#geneStructure">Gene Structure</a>
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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="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/141850">Table View</a>
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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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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 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=ENSG00000188536;t=ENST00000251595" 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=3040" 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=141850" 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 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=ENSG00000188536;t=ENST00000251595" 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_000517" 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_000517" 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=141850" 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=00785&isoform_id=00785_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/HBA2" 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/28547,28549,28558,386764,537333,1335076,1817577,3859550,4038450,4504345,8101647,9624481,13543548,13650074,14250291,21594679,30047788,57013850,62898345,75517307,75517967,95115681,319976397,557561704,557561742,557561794,557561909,557564620,918027651,1534882727,1534882729,2050647002,2833698709" 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=3040" 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=ENSG00000188536;t=ENST00000251595" 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=HBA2" 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=HBA2" 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+3040" 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/HBA2" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3040" 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=ENST00000251595.11&hgg_start=172876&hgg_end=173710&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:4824" 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:4824" 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/hba2" 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=141850[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=141850[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://gnomad.broadinstitute.org/gene/ENSG00000188536" 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=HBA2" 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=HBA2" 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=HBA2" 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=HBA2" title="Alpha-2 globin (HBA2) database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Alpha-2 globin (HBA2) 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=HBA2&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/PA29199" 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:4824" 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/HBA2#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/3040/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=3040" 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>
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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:141850" 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:3040" 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=HBA2&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> 191187006, 36467003, 68913001<br />
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<strong>ICD10CM:</strong> D56.0, D56.3<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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141850
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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 2; HBA2
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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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5-PRIME ALPHA-GLOBIN GENE<br />
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ALPHA-GLOBIN LOCUS, SECOND<br />
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MAJOR 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=HBA2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HBA2</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>
|
|
Cytogenetic location: <a href="/geneMap/16/17?start=-3&limit=10&highlight=17">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=chr16:172876-173710&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'})">16:172,876-173,710</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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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=617981,140700,613978,604131" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="4">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/17?start=-3&limit=10&highlight=17">
|
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16p13.3
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Erythrocytosis, familial, 7
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</span>
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</td>
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<td>
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<span class="mim-font">
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PheneGene Graphics <span class="caret"></span>
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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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<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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<p>The HBA1 (<a href="/entry/141800">141800</a>) and HBA2 genes encode identical 141-amino acid proteins (summary by <a href="#106" class="mim-tip-reference" title="Michelson, A. M., Orkin, S. H. <strong>Boundaries of gene conversion within the duplicated human alpha-globin genes: concerted evolution by segmental recombination.</strong> J. Biol. Chem. 258: 15245-15254, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6317690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6317690</a>]" pmid="6317690">Michelson and Orkin, 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6317690" 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>Since at least as early as 1970, 2 alpha loci have been known to exist in some humans (<a href="#15" 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>Brimhall et al., 1970</a>): hemoglobins G (Pest) and J (Buda) showed the existence of at least 2 alpha chains in the Hungarians studied (<a href="/entry/141800#0041">141800.0041</a>, <a href="#0008">141850.0008</a>), whereas hemoglobin J (Tongariki) indicated that in Melanesians only 1 alpha locus exists (<a href="/entry/141800#0077">141800.0077</a>). The alpha locus is apparently double in Chinese (<a href="#73" class="mim-tip-reference" title="Kan, Y. W. <strong>Personal Communication.</strong> San Francisco, Calif. 1974."None>Kan, 1974</a>), whereas in American blacks, chromosomes with single or double alpha loci are about equally frequent (<a href="#67" class="mim-tip-reference" title="Huisman, T. H. J. <strong>Personal Communication.</strong> Augusta, Ga. 1974."None>Huisman, 1974</a>). Three members of a Hungarian family had 2 alpha-chain variants (Hb J Buda and Hb G Pest), each variant accounting for 25% of hemoglobin, the rest being Hb A (<a href="#14" 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>Brimhall et al., 1974</a>).</p><p><a href="#139" class="mim-tip-reference" title="Rucknagel, D. L., Dublin, P. A., Jr. <strong>Hemoglobin G (alpha)-trait: evidence for heterogeneity in the number of alpha chain loci in man. (Abstract)</strong> Am. J. Hum. Genet. 26: 73A, 1974."None>Rucknagel and Dublin (1974)</a> estimated that a chromosome with a single alpha locus has a frequency of about 0.27 in American blacks and about 0.36 in African blacks. <a href="#140" class="mim-tip-reference" title="Rucknagel, D. L., Rising, J. A. <strong>A heterozygote for Hb S, Hb C and Hb G(Philadelphia) in a family presenting evidence for heterogeneity of hemoglobin alpha chain loci.</strong> Am. J. Med. 59: 53-60, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1138551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1138551</a>] [<a href="https://doi.org/10.1016/0002-9343(75)90321-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1138551">Rucknagel and Rising (1975)</a> studied an American black family in which of 5 persons heterozygous for hemoglobin G (Philadelphia), an alpha-chain mutant, 3 had about 30% Hb G and 2 had 40%. They suggested that the former persons have 2 alpha hemoglobin loci and the latter persons 1 such locus. From studies of hemoglobin G (Philadelphia), <a href="#7" class="mim-tip-reference" title="Baine, R. M., Rucknagel, D. L., Dublin, P. A., Jr., Adams, J. G., III. <strong>Trimodality in the proportion of hemoglobin G Philadelphia in heterozygotes: evidence for heterogeneity in the number of human alpha chain loci.</strong> Proc. Nat. Acad. Sci. 73: 3633-3636, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1068476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1068476</a>] [<a href="https://doi.org/10.1073/pnas.73.10.3633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1068476">Baine et al. (1976)</a> also concluded that there is variability in the number of alpha-chain genes in the American black population. In heterozygotes the proportion of Hb G (Philadelphia) was trimodally distributed with modes at about 20%, 30%, and 40%. <a href="#7" class="mim-tip-reference" title="Baine, R. M., Rucknagel, D. L., Dublin, P. A., Jr., Adams, J. G., III. <strong>Trimodality in the proportion of hemoglobin G Philadelphia in heterozygotes: evidence for heterogeneity in the number of human alpha chain loci.</strong> Proc. Nat. Acad. Sci. 73: 3633-3636, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1068476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1068476</a>] [<a href="https://doi.org/10.1073/pnas.73.10.3633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1068476">Baine et al. (1976)</a> concluded that gene dosage accounts for this: 1 G gene out of 4 alpha genes leads to 20% Hb G; 1 G gene out of 3 alpha genes leads to 30% Hb G; 1 G gene out of 2 alpha genes or 2 G genes out of 4 alpha genes leads to 40% Hb G. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1138551+1068476" 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 Melanesians, <a href="#44" class="mim-tip-reference" title="Eng, L. I., Kosasih, E. N., Tann, G. <strong>Variation of several erythrocyte enzymes and serum proteins of Indonesians from North Sumatra.</strong> Humangenetik 22: 331-334, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4426627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4426627</a>] [<a href="https://doi.org/10.1007/BF00295493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4426627">Eng et al. (1974)</a> observed homozygous Hb Constant Spring and Hb A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4426627" 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 study of Hb J (Mexico) in an Algerian family, <a href="#164" class="mim-tip-reference" title="Trabuchet, G., Pagnier, J., Labie, D. <strong>Homozygous cases for hemoglobin J Mexico (alpha 54 (E3) gln replaced by glu) evidence for a duplicated alpha gene with unequal expression.</strong> Hemoglobin 1: 13-25, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1052168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1052168</a>] [<a href="https://doi.org/10.3109/03630267609031019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1052168">Trabuchet et al. (1976)</a> also concluded that the alpha gene was duplicate in some chromosomes and single in others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1052168" 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>Although there was no direct proof, <a href="#130" class="mim-tip-reference" title="Politis-Tsegos, C., Lang, A., Stathopoulou, R., Lehmann, H. <strong>Is haemoglobin G(alpha) Philadelphia linked to alpha-thalassemia?</strong> Hum. Genet. 31: 67-74, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1248825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1248825</a>] [<a href="https://doi.org/10.1007/BF00270401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1248825">Politis-Tsegos et al., 1976</a> suggested that the 2 alpha-globin genes are closely linked and that unequal crossingover may be responsible for the type of alpha-thalassemia with deleted alpha loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1248825" 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="#106" class="mim-tip-reference" title="Michelson, A. M., Orkin, S. H. <strong>Boundaries of gene conversion within the duplicated human alpha-globin genes: concerted evolution by segmental recombination.</strong> J. Biol. Chem. 258: 15245-15254, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6317690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6317690</a>]" pmid="6317690">Michelson and Orkin (1983)</a> stated that the genes encoding the alpha-like chains of human hemoglobin form a cluster on the short arm of chromosome 16 that spans approximately 30 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6317690" 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="#105" class="mim-tip-reference" title="Michelson, A. M., Orkin, S. H. <strong>The 3-prime untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent.</strong> Cell 22: 371-377, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7448866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7448866</a>] [<a href="https://doi.org/10.1016/0092-8674(80)90347-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7448866">Michelson and Orkin (1980)</a> determined that the HBA1 and HBA2 genes differ significantly in the 3-prime untranslated regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7448866" 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="#159" 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 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="#159" 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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<p>Two types of deletional alpha-plus-thalassemia are identified by molecular genetic studies. One, termed leftward, shows a deletion of 4.2 kb and removes the entire alpha-2 gene; the other, termed rightward, has a deletion of 3.7 kb and gives rise to a hybrid alpha-2/alpha-1 gene. The 3.7-kb rightward deletion can also remove the entire alpha-1 gene and is 'possibly the most common mutation known to produce a genetic disorder' (<a href="#11" class="mim-tip-reference" title="Bowden, D. K., Hill, A. V. S., Higgs, D. R., Oppenheimer, S. J., Weatherall, D. J., Clegg, J. B. <strong>Different hematologic phenotypes are associated with the leftward (minus-alpha-4.2) and rightward (minus-alpha-3.7) alpha-plus-thalassemia deletions.</strong> J. Clin. Invest. 79: 39-43, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3793931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3793931</a>] [<a href="https://doi.org/10.1172/JCI112804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3793931">Bowden et al., 1987</a>). It is prevalent in most tropical and subtropical populations that have been studied, including African and American blacks, Mediterraneans, Southeast Asians, and some Pacific Island populations. In contrast, the 4.2-kb deletion of the alpha-2 gene is very rare in African blacks and Mediterraneans. The leftward one was found only in Asian cases until the report of a case in East Sicily (<a href="#166" class="mim-tip-reference" title="Troungos, C., Krishnamoorthy, R., Lombardo, T., Sortino, G., Cacciola, E., Labie, D. <strong>A leftward deletional alpha+ thalassemia found in East Sicily in conjunction with heterozygous beta-thalassemia.</strong> Hum. Genet. 67: 216-218, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6745942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6745942</a>] [<a href="https://doi.org/10.1007/BF00273005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6745942">Troungos et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3793931+6745942" 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="#42" class="mim-tip-reference" title="El-Hazmi, M. A. F. <strong>Leftward deletion alpha-thalassaemia in the Saudi Arabian population.</strong> Hum. Genet. 74: 219-222, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2430881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2430881</a>] [<a href="https://doi.org/10.1007/BF00282537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2430881">El-Hazmi (1986)</a> found several persons with the leftward deletion alpha-thalassemia in Saudi Arabia, including homozygotes and heterozygotes. Remarkably, in north coastal Papua New Guinea, the 4.2-kb deletion is found in more than 80% of the population and appears to be going to fixation (<a href="#117" class="mim-tip-reference" title="Oppenheimer, S. J., Higgs, D. R., Weatherall, D. J., Barker, J., Spark, R. A. <strong>Alpha-thalassemia in Papua New Guinea.</strong> Lancet 323: 424-426, 1984. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142152</a>] [<a href="https://doi.org/10.1016/s0140-6736(84)91754-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6142152">Oppenheimer et al., 1984</a>). From comparison of the level of hemoglobin Bart (<a href="/entry/142309">142309</a>) at birth in homozygotes for each of the 2 deletions, <a href="#11" class="mim-tip-reference" title="Bowden, D. K., Hill, A. V. S., Higgs, D. R., Oppenheimer, S. J., Weatherall, D. J., Clegg, J. B. <strong>Different hematologic phenotypes are associated with the leftward (minus-alpha-4.2) and rightward (minus-alpha-3.7) alpha-plus-thalassemia deletions.</strong> J. Clin. Invest. 79: 39-43, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3793931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3793931</a>] [<a href="https://doi.org/10.1172/JCI112804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3793931">Bowden et al. (1987)</a> demonstrated that the alpha-2 gene, when alone on the chromosome, reduces more alpha-globin than does the alpha-1 gene. (Since hemoglobin Bart is a tetramer of gamma chains, the level of this hemoglobin reflects in an inverse manner the amount of alpha chains produced.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2430881+6142152+3793931" 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 a case of alpha-thalassemia, <a href="#178" class="mim-tip-reference" title="Whitelaw, E., Proudfoot, N. <strong>Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3-prime end processing in the human alpha-2 globin gene.</strong> EMBO J. 5: 2915-2922, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3024968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3024968</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1986.tb04587.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3024968">Whitelaw and Proudfoot (1986)</a> showed that the mutation in the 3-prime poly(A) site leads to transcription of the mutant alpha-2 globin gene through into the intergenic sequence past the normal termination site. They interpreted these results as demonstrating that transcriptional termination and 3-prime end processing of mRNA are coupled events for the alpha-2 globin gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3024968" 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="#92" 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> studied 8 separate alpha-globin mutants mapped to the alpha-1 or the alpha-2 locus and demonstrated that the alpha-2 gene encodes 2- to 3-fold more protein than the alpha-1 gene. These results suggested that the human alpha-globin cluster contains a major and a minor locus and that deletions in the alpha-2 gene are more significant in the generation of the alpha-thalassemia phenotype than are deletions in the alpha-1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3771577" 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 been arbitrarily listed under HBA1 (<a href="/entry/141800">141800</a>).</p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=141850[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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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> rs41464951 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41464951;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/rs41464951?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=rs41464951" 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=rs41464951" 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=RCV000016891 OR RCV000022602 OR RCV000169546 OR RCV000508088 OR RCV004795423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016891, RCV000022602, RCV000169546, RCV000508088, RCV004795423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016891...</a>
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<p>In this variant hemoglobin, named for the community in Jamaica where it was first discovered (<a href="#29" class="mim-tip-reference" title="Clegg, J. B., Weatherall, D. J., Milner, P. F. <strong>Haemoglobin Constant Spring--a chain termination mutant?</strong> Nature 234: 337-340, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4944483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4944483</a>] [<a href="https://doi.org/10.1038/234337a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4944483">Clegg et al., 1971</a>), alpha chains have 172 amino acids rather than the normal 141. <a href="#29" class="mim-tip-reference" title="Clegg, J. B., Weatherall, D. J., Milner, P. F. <strong>Haemoglobin Constant Spring--a chain termination mutant?</strong> Nature 234: 337-340, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4944483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4944483</a>] [<a href="https://doi.org/10.1038/234337a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4944483">Clegg et al. (1971)</a> suggested that this may reflect a chain termination mutation. Hb Constant Spring represents 1 to 2% of the hemoglobin of heterozygotes. When combined with an alpha-thalassemia mutation, Hb H disease (<a href="/entry/613978">613978</a>) results. It is the alpha-2 or 5-prime alpha-globin gene that is mutant in hemoglobin Constant Spring. Hemoglobin Tak (<a href="/entry/141900#0279">141900.0279</a>) is a termination defect of the beta chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4944483" 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="#69" class="mim-tip-reference" title="Hunt, L. T., Dayhoff, M. O. <strong>The origin of the genetic material in the abnormally long human hemoglobin alpha and beta chains.</strong> Biochem. Biophys. Res. Commun. 47: 699-704, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4623704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4623704</a>] [<a href="https://doi.org/10.1016/0006-291x(72)90548-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4623704">Hunt and Dayhoff (1972)</a> searched 518 known protein sequences for a 31-amino acid sequence with the largest number of identities to that of the extra piece on hemoglobin Constant Spring. The sequence that had the greatest identity (9 amino acids) was the region 68-98 of the normal alpha chain. See hemoglobin Wayne (<a href="#0004">141850.0004</a>) for further discussion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4623704" 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 use of allele-specific oligonucleotide probes, <a href="#79" class="mim-tip-reference" title="Kosasih, E. N., Cai, S.-P., Kan, Y. W., Lie-Injo, L. E. <strong>Hemoglobin Constant Spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta121--gln) in a Batak Indonesian family.</strong> Am. J. Hemat. 29: 22-26, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177365</a>] [<a href="https://doi.org/10.1002/ajh.2830290106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3177365">Kosasih et al. (1988)</a> demonstrated that Hb Constant Spring in a Batak Indonesian family was due to replacement of T by C in the TAA terminal codon of the alpha-2-globin gene, changing it to CAA, the codon for glutamine. This resulted in read-through of the untranslated sequence of the mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3177365" 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="#63" class="mim-tip-reference" title="Hsia, Y. E., Ford, C. A., Shapiro, L. J., Hunt, J. A., Ching, N. S. P. <strong>Molecular screening for haemoglobin Constant Spring.</strong> Lancet 333: 988-990, 1989. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2468982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2468982</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)92630-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2468982">Hsia et al. (1989)</a> described a sensitive and specific DNA-based screening test for improved detection of the Constant Spring variant using polymerase chain reaction (PCR) and allele-specific oligonucleotide slot-blot hybridization. Since the Constant Spring protein is difficult to detect by electrophoresis, <a href="#63" class="mim-tip-reference" title="Hsia, Y. E., Ford, C. A., Shapiro, L. J., Hunt, J. A., Ching, N. S. P. <strong>Molecular screening for haemoglobin Constant Spring.</strong> Lancet 333: 988-990, 1989. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2468982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2468982</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)92630-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2468982">Hsia et al. (1989)</a> suspected that the true incidence of the Constant Spring variant may be greater than previously suspected on the basis of protein electrophoresis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2468982" 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="#84" class="mim-tip-reference" title="Laig, M., Pape, M., Hundrieser, J., Flatz, G., Sanguansermsri, T., Das, B. M., Deka, R., Yongvanit, P., Mularlee, N. <strong>The distribution of the Hb Constant Spring gene in Southeast Asian populations.</strong> Hum. Genet. 84: 188-190, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2298455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2298455</a>] [<a href="https://doi.org/10.1007/BF00208939" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2298455">Laig et al. (1990)</a> found Hb CS gene frequencies between 0.05 and 0.06 in northeastern Thailand. The Lao-speaking populations of the Mekong River basin were found to have the highest frequencies of the gene in Southeast Asia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2298455" 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>To identify nondeletion types of Hb H disease in Guangxi, China, <a href="#176" class="mim-tip-reference" title="Wen, X.-J., Liang, S., Jin, Q., Lin, W.-X. <strong>The nondeletional types of Hb H disease in Guangxi.</strong> Hemoglobin 16: 45-50, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634361</a>] [<a href="https://doi.org/10.3109/03630269209005675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634361">Wen et al. (1992)</a> designed 3 primers: one specific for HBA1 DNA, another specific for HBA2 DNA, and a third that was common to the 2. In 27 of 59 Hb H cases (45.8%), it was possible to confirm the disorder as nondeletional in type. Of these, 22 (81.5%) had the Hb Constant Spring mutation and one had the Hb Quong Sze mutation (<a href="#0005">141850.0005</a>). The nondeletion Hb H disease in Guangxi seemed to be more severe than the deletion types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634361" 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"><span class="text-primary">●</span> rs41464951 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41464951;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/rs41464951?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=rs41464951" 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=rs41464951" 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=RCV000016893 OR RCV000022603 OR RCV000985726 OR RCV002250461 OR RCV004017255" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016893, RCV000022603, RCV000985726, RCV002250461, RCV004017255" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016893...</a>
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<p>Abnormally long alpha chain. Lysine is the 142nd amino acid. Glutamine is the corresponding amino acid in the abnormally long alpha chain of Hb Constant Spring (<a href="#0001">141850.0001</a>), which like Hb Icaria is the result of a terminator mutation (<a href="#28" class="mim-tip-reference" title="Clegg, J. B., Weatherall, D. J., Contopou-Griva, I., Caroutsos, K., Poungouras, P., Tsevrenis, H. <strong>Haemoglobin Icaria, a new chain-termination mutant which causes alpha-thalassaemia.</strong> Nature 251: 245-247, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4422784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4422784</a>] [<a href="https://doi.org/10.1038/251245a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4422784">Clegg et al., 1974</a>). The mutation is a TAA-to-AAA change in codon 142 of the alpha-2 chain, converting it from 'stop' to lysine. In a Yugoslavian teenager with moderate anemia with severe microcytosis and hypochromia and 16% Hb H, <a href="#40" class="mim-tip-reference" title="Efremov, G. D., Josifovska, O., Nikolov, N., Codrington, J. F., Oner, C., Gonzalez-Redondo, J. M., Huisman, T. H. J. <strong>Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA.</strong> Brit. J. Haemat. 75: 250-253, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2372512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2372512</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1990.tb02658.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2372512">Efremov et al. (1990)</a> identified the TAA-to-AAA mutation at codon 142 of the alpha-2 globin gene. The patient also had an alpha-thalassemia-1 deletion of about 20.5 kb, common in Mediterranean populations. The one remaining alpha-1 globin gene was apparently able to compensate sufficiently for the loss of the 3 alpha-globin genes to maintain a hemoglobin level of 8-9 g/dl. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2372512+4422784" 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 interaction of Hb Icaria with the Mediterranean type of alpha thalassemia resulted in severe Hb H disease (<a href="/entry/613978">613978</a>); splenectomy resulted in marked amelioration of clinical features (<a href="#74" class="mim-tip-reference" title="Kanavakis, E., Traeger-Synodinos, J., Papasotiriou, I., Vrettou, C., Metaxotou-Mavromati, A., Stamoulakatou, A,, Lagona, E., Kattamis, C. <strong>The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.</strong> Brit. J. Haemat. 92: 332-335, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602995</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1996.d01-1487.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8602995">Kanavakis et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602995" 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"><span class="text-primary">●</span> rs41321345 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41321345;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/rs41321345?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=rs41321345" 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=rs41321345" 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=RCV000016894 OR RCV000759055 OR RCV004546413 OR RCV005007856" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016894, RCV000759055, RCV004546413, RCV005007856" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016894...</a>
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<p>Excessive length of alpha-like chain (with at least 156 amino acids rather than 141). <a href="#33" class="mim-tip-reference" title="De Jong, W. W., Meera Khan, P., Bernini, L. F. <strong>Hemoglobin Koya Dora: high frequency of a chain termination mutant.</strong> Am. J. Hum. Genet. 27: 81-90, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1155453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1155453</a>]" pmid="1155453">De Jong et al. (1975)</a> found that about 10% of members of the Koya Dora tribe in Andhra Pradesh, India, carry this variant hemoglobin. They found 2 persons with 2 alpha chain variants, Hb Rampa and Hb Koya Dora, plus normal Hb A. This indicates that this population carries 2 alpha chain loci. Hb Koya Dora resembles Hb Constant Spring (<a href="#0001">141850.0001</a>) in many respects including its alpha-thalassemia-like expression. Serine is substituted at position 142 of the alpha-2 chain (glutamine in Hb Constant Spring and lysine in Hb Icaria). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1155453" 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">rs63750520 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750520;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=rs63750520" 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=rs63750520" 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=RCV000016896 OR RCV000507225 OR RCV001831574" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016896, RCV000507225, RCV001831574" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016896...</a>
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<p>Two hemoglobins, Hb W1 and Hb W2, with anomalous alpha chains were observed in several members of a family. The alpha T-14 peptide was replaced by a new peptide which was different in the 2. The sequence in Hb A which was missing was thr-ser-lys-tyr-arg-COOH. In W1 it was replaced by thr-ser-asn-thr-val-lys-leu-glu-pro-arg-COOH. Hb W2 had the same peptide except that aspartic acid had been substituted for asparagine in the third position. This was believed to represent the result of enzymatic deamidation of Hb W1. This was the first reported frameshift mutation in man. Deletion of a single nucleotide yields the sequence observed in Hb W1. If the usual nucleotide sequence in the alpha chain gene is ACX.UCX.AAA(G).UAC.CGU.UAA signifying thr-ser-lys-tyr-arg-terminator, then hemoglobin Wayne has had a deletion of the third nucleotide of codon 139 resulting in frameshift to ACX.UCX.AAU.ACC.GUU.AAG.CUG.GAG etc., which reads thr-ser-asn-thr-val-lys-leu-glu-etc. This interpretation agrees with that for hemoglobin Constant Spring (<a href="#0001">141850.0001</a>), which appears to be a change in the first nucleotide of the terminator codon so that the above sequence becomes ACX.UCX.AAA.UAC.CGU.CAA.GCU.GGA etc., which is read as thr-ser-lys-tyr-arg-gln-ala-gly-etc. The mutation in Hb Wayne is in the alpha-2 gene. See <a href="#150" class="mim-tip-reference" title="Seid-Akhavan, M., Winter, W. P., Abramson, R. K., Rucknagel, D. L. <strong>Hemoglobin Wayne: a frameshift mutation detected in human hemoglobin alpha chains.</strong> Proc. Nat. Acad. Sci. 73: 882-886, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1062801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1062801</a>] [<a href="https://doi.org/10.1073/pnas.73.3.882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1062801">Seid-Akhavan et al. (1976)</a> and <a href="#158" class="mim-tip-reference" title="Stamatoyannopoulos, G., Nute, P. E., Papayannopoulou, T., McGuire, T., Lim, G., Bunn, H. F., Rucknagel, D. <strong>Development of a somatic mutation screening system using Hb mutants. IV. Successful detection of red cells containing the human frameshift mutants Hb Wayne and Hb Cranston using monospecific fluorescent antibodies.</strong> Am. J. Hum. Genet. 32: 484-496, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6994493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6994493</a>]" pmid="6994493">Stamatoyannopoulos et al. (1980)</a>. In a Canadian family of Scandinavian descent, <a href="#141" class="mim-tip-reference" title="Salkie, M. L., Higgins, T., Morrison, D. M., Wilson, J. B., Gu, L.-H., Curuk, M. A., Baysal, E., Huisman, T. H. J. <strong>A Canadian family with Hb Wayne; characterization by HPLC and DNA sequencing.</strong> Hemoglobin 16: 515-519, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487423</a>] [<a href="https://doi.org/10.3109/03630269208993120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487423">Salkie et al. (1992)</a> described Hb Wayne in a mother and all of her 4 children. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1062801+1487423+6994493" 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"><span class="text-primary">●</span> rs41397847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41397847;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/rs41397847?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=rs41397847" 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=rs41397847" 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=RCV000016897 OR RCV000417220 OR RCV001811168 OR RCV002476982" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016897, RCV000417220, RCV001811168, RCV002476982" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016897...</a>
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<p><a href="#47" class="mim-tip-reference" title="Goossens, M., Lee, K. Y., Liebhaber, S. A., Kan, Y. W. <strong>Globin structural mutant alpha 125 leu-to-pro is a novel cause of alpha-thalassaemia.</strong> Nature 296: 864-865, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7070526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7070526</a>] [<a href="https://doi.org/10.1038/296864a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7070526">Goossens et al. (1982)</a> described another nondeletion mechanism: mutation in the 125th codon of the alpha-2 gene resulted in substitution of proline for leucine in a region of the H helix of the alpha-globin chain, which is critical for alpha-beta contact, resulting in impediment to alpha-beta dimer formation, the initial step in hemoglobin tetramer assembly. Thus, the alpha-thalassemia phenotype results from a novel posttranslational mechanism. <a href="#47" class="mim-tip-reference" title="Goossens, M., Lee, K. Y., Liebhaber, S. A., Kan, Y. W. <strong>Globin structural mutant alpha 125 leu-to-pro is a novel cause of alpha-thalassaemia.</strong> Nature 296: 864-865, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7070526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7070526</a>] [<a href="https://doi.org/10.1038/296864a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7070526">Goossens et al. (1982)</a> named the mutant Quong Sze, after the province in China where the mother of their proband was born. <a href="#88" class="mim-tip-reference" title="Liang, S., Wen, X.-J., Lin, W.-X. <strong>Detection of the Hb Quong Sze mutation in a Chinese family by selective amplification of the alpha-2-globin gene and restriction map analysis with Msp I.</strong> Hemoglobin 15: 535-540, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1726096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1726096</a>] [<a href="https://doi.org/10.3109/03630269109027901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1726096">Liang et al. (1991)</a> reported a second example of this mutation in a Chinese family in Guangxi (Quong Sze). Hb Quong Sze is a highly unstable alpha-chain variant; because the abnormal alpha chains are rapidly catabolized, the abnormal hemoglobin is difficult to detect in reticulocytes. Identification was made through gene analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1726096+7070526" 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>.0006 HEMOGLOBIN EVANS</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">rs41515649 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41515649;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=rs41515649" 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=rs41515649" 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=RCV000016898" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016898" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016898</a>
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<p>In the alpha-2 chain of hemoglobin from a Caucasian female with mild hemolytic anemia, <a href="#179" class="mim-tip-reference" title="Wilson, J. B., Webber, B. B., Kutlar, A., Reese, A. L., McKie, V. C., Lutcher, C. L., Felice, A. E., Huisman, T. H. J. <strong>HB Evans or alpha-2 62 (E11) val-to-met: an unstable hemoglobin causing a mild hemolytic anemia.</strong> Hemoglobin 13: 557-566, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2606724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2606724</a>] [<a href="https://doi.org/10.3109/03630268908993106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2606724">Wilson et al. (1989)</a> demonstrated substitution of methionine for valine at position 62. Dot-blot analysis of amplified DNA using synthetic oligonucleotide probes confirmed the suspected G-to-A mutation in the first position of codon 62; GTG was changed to ATG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2606724" 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>.0007 HEMOGLOBIN SUAN-DOK</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">rs41479844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41479844;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=rs41479844" 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=rs41479844" 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=RCV000016899 OR RCV001078246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016899, RCV001078246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016899...</a>
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<p>See <a href="#143" class="mim-tip-reference" title="Sanguansermsri, T., Matragoon, S., Changloah, L., Flatz, G. <strong>Hemoglobin Suan-Dok (alpha109 leu-to-arg): an unstable variant associated with alpha-thalassemia.</strong> Hemoglobin 3: 161-174, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/478977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">478977</a>] [<a href="https://doi.org/10.3109/03630267908998911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="478977">Sanguansermsri et al. (1979)</a>. Hb Suan-Dok has an alpha-thalassemia-like effect due to low production and instability of the altered alpha-globin chain. Since the mutation (CTG to CGG) creates a new SmaI restriction site, <a href="#68" class="mim-tip-reference" title="Hundrieser, J., Sanguansermsri, T., Laig, M., Pape, M., Kuhnau, W., Flatz, G. <strong>Direct demonstration of the Hb Suan-Dok mutation in the alpha-2-globin gene by restriction analysis with Sma I.</strong> Hemoglobin 14: 69-77, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2384313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2384313</a>] [<a href="https://doi.org/10.3109/03630269009002255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2384313">Hundrieser et al. (1990)</a> diagnosed the mutation by restriction analysis. Furthermore, they confirmed location of the mutation in the HBA2 gene. The hemoglobin was identified in a family from the province of Lampang in Northern Thailand. <a href="#175" class="mim-tip-reference" title="Weiss, I., Cash, F. E., Coleman, M. B., Pressley, A., Adams, J. G., Sanguansermsri, T., Liebhaber, S. A., Steinberg, M. H. <strong>Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha-2 109leu-to-arg).</strong> Blood 76: 2630-2636, 1990. Note: Erratum: Blood 77: 1404 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265255</a>]" pmid="2265255">Weiss et al. (1990)</a> concluded that the thalassemia associated with the Suan-Dok mutation results from instability of the mutant alpha-globin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=478977+2384313+2265255" 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="#138" class="mim-tip-reference" title="Regtuijt, M. E., Harteveld, C. L., Van Delft, P., Akkermans, N., Giordano, P. C. <strong>Hb Suan-Dok [alpha-109(G16)leu-to-arg; CTG-to-CGC (alpha-2)] described in a patient of African ancestry.</strong> Hemoglobin 28: 173-176, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481883</a>] [<a href="https://doi.org/10.1081/hem-120040309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481883">Regtuijt et al. (2004)</a> described Hb Suan-Dok in a 58-year-old black female from Curacao (West Indies) with persistent microcytic hypochromic anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481883" 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>.0008 HEMOGLOBIN J (BUDA)</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">rs111033598 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033598;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=rs111033598" 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=rs111033598" 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">rs33985574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33985574;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=rs33985574" 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=rs33985574" 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=RCV000016900 OR RCV000641281" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016900, RCV000641281" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016900...</a>
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<p>Hb J (Buda) and Hb G (Pest) (<a href="/entry/141800#0041">141800.0041</a>), both alpha-chain mutants, occurred together in a Hungarian male with erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>). The occurrence of some normal Hb A in this man showed the existence of at least 2 alpha loci. See <a href="#60" 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> and <a href="#14" 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>Brimhall et al. (1974)</a>. By selectively amplifying the alpha-1 and alpha-2-globin cDNAs and hybridizing them to allele-specific oligonucleotides, <a href="#98" 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> demonstrated that the J-Buda variant has a change in the alpha-2 gene, namely, a change from AAG to AAC in codon 61. <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>.0009 HEMOGLOBIN SPANISH TOWN</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">rs281864823 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864823;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=rs281864823" 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=rs281864823" 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">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=RCV000016892" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016892" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016892</a>
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<p>See <a href="#2" class="mim-tip-reference" title="Ahern, E., Ahern, V., Holder, W., Palomino, E., Serjeant, G. R., Serjeant, B. E., Forbes, M., Brimhall, B., Jones, R. T. <strong>Haemoglobin Spanish Town: alpha 27 glu-to-val (B8).</strong> Biochim. Biophys. Acta 427: 530-535, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1268216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1268216</a>] [<a href="https://doi.org/10.1016/0005-2795(76)90195-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1268216">Ahern et al. (1976)</a>. <a href="#22" 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> demonstrated that the Spanish Town mutation is located in the HBA2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2752146+1268216" 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="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 J (OXFORD)</strong>
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</h4>
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HEMOGLOBIN I (INTERLAKEN)<br />
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HEMOGLOBIN N (COSENZA)
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HBA2, GLY15ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34956202 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34956202;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=rs34956202" 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=rs34956202" 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=RCV000016902 OR RCV000016903 OR RCV000016904" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016902, RCV000016903, RCV000016904" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016902...</a>
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<p>See <a href="#89" class="mim-tip-reference" title="Liddell, J., Brown, D., Beale, D., Lehmann, H., Huntsman, R. G. <strong>A new haemoglobin J(alpha)-Oxford, found during a survey of an English population.</strong> Nature 204: 269-270, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14212426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14212426</a>] [<a href="https://doi.org/10.1038/204269a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14212426">Liddell et al. (1964)</a>, <a href="#101" class="mim-tip-reference" title="Marti, H. R., Pik, C., Mosimann, P. <strong>Eine neue Haemoglobin I-Variante: Hb I (Interlaken).</strong> Acta Haemat. 32: 9-16, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14204459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14204459</a>] [<a href="https://doi.org/10.1159/000209551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14204459">Marti et al. (1964)</a>, <a href="#156" class="mim-tip-reference" title="Silvestroni, E., Bianco, I., Tentori, L., Vivaldi, G., Carta, S., Sorcini, M., Brancati, C. <strong>The structural abnormality of Hb N in a family from Cosenza. In: Proceedings of the 10th Congress of the European Society of Hematology, Strasbourg, 1965. Part II.</strong> Basel and New York: S. Karger (pub.) 1967. Pp. 232-237."None>Silvestroni et al. (1967)</a>, and <a href="#51" 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>. This is a mutation of the HBA2 gene (<a href="#22" 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=2752146+6469697+14204459+14212426" 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="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 HEMOGLOBIN I</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 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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HBA2, LYS16GLU
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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">rs281865555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865555;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=rs281865555" 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=rs281865555" 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> 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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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016905 OR RCV000016906 OR RCV000016907 OR RCV000016908 OR RCV000016909 OR RCV000985727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016905, RCV000016906, RCV000016907, RCV000016908, RCV000016909, RCV000985727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016905...</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>The hemoglobin I mutation is curious in that it is encoded at both the HBA1 locus (see <a href="/entry/141800#0055">141800.0055</a>) and at the HBA2 locus (<a href="#95" 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>). This is presumably an example of gene conversion. <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'})"><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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<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 L (FERRARA)</strong>
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</h4>
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<span class="mim-text-font">
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HEMOGLOBIN HASHARON<br />
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HEMOGLOBIN SINAI<br />
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HEMOGLOBIN SEALY
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<span class="mim-text-font">
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<div style="float: left;">
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HBA2, ASP47HIS
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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> rs281864834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864834;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/rs281864834?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=rs281864834" 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=rs281864834" 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">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=RCV000016910 OR RCV000016911 OR RCV000016912 OR RCV000016913 OR RCV001275680 OR RCV001544589 OR RCV005016273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016910, RCV000016911, RCV000016912, RCV000016913, RCV001275680, RCV001544589, RCV005016273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016910...</a>
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</span>
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</div>
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<p>See Silvestroni et al. (<a href="#154" class="mim-tip-reference" title="Silvestroni, E., Bianco, I., Lucci, R., Soffritti, E. <strong>Presence of hemoglobin 'L' in natives of Ferrara and of hemoglobin 'D' in natives of Bologna.</strong> Acta Genet. Med. Gemellol. 9: 472-496, 1960."None>1960</a>, <a href="#155" class="mim-tip-reference" title="Silvestroni, E., Bianco, I., Lucci, R., Soffritti, E. <strong>The hematological picture in carriers of Hb L, living in Ferrara: associations and relations to microcythemia.</strong> Prog. Med. 16: 553-561, 1960."None>1960</a>), <a href="#10" class="mim-tip-reference" title="Bianco, I., Modiano, G., Bottini, E., Lucci, R. <strong>Alteration in the alpha-chain of haemoglobin L Ferrara.</strong> Nature 198: 395-396, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13968068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13968068</a>] [<a href="https://doi.org/10.1038/198395a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13968068">Bianco et al. (1963)</a>, <a href="#49" class="mim-tip-reference" title="Halbrecht, I., Isaacs, W. A., Lehmann, H., Ben-Porat, F. <strong>Hemoglobin Hasharon (alpha 47 aspartic acid to histidine).</strong> Isr. J. Med. Sci. 3: 827-831, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5587575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5587575</a>]" pmid="5587575">Halbrecht et al. (1967)</a>, <a href="#121" class="mim-tip-reference" title="Ostertag, W., Smith, E. W. <strong>Hb Sinai, a new alpha chain mutant (alpha his 47).</strong> Humangenetik 6: 377-379, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5713624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5713624</a>] [<a href="https://doi.org/10.1007/BF00286809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5713624">Ostertag and Smith (1968)</a>, <a href="#26" class="mim-tip-reference" title="Charache, S., Mondzac, A. M., Gessner, U. <strong>Hemoglobin Hasharon (alpha-2 47 his(CD5)beta-2): a hemoglobin found in low concentration.</strong> J. Clin. Invest. 48: 834-847, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5780195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5780195</a>] [<a href="https://doi.org/10.1172/JCI106041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5780195">Charache et al. (1969)</a>, <a href="#113" class="mim-tip-reference" title="Nagel, R. L., Ranney, H. M., Bradley, T. B., Jacobs, A., Udem, L. <strong>Hemoglobin L Ferrara in a Jewish family associated with a hemolytic state in the propositus.</strong> Blood 34: 157-165, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794113</a>]" pmid="5794113">Nagel et al. (1969)</a>, <a href="#85" class="mim-tip-reference" title="Lehmann, H., Vella, F. <strong>Haemoglobin Hasharon.</strong> Humangenetik 25: 237-240, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4448454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4448454</a>] [<a href="https://doi.org/10.1007/BF00281433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4448454">Lehmann and Vella (1974)</a>, <a href="#163" class="mim-tip-reference" title="Tentori, L. <strong>Hemoglobin L Ferrara = hemoglobin Hasharon.</strong> Hemoglobin 1: 602, 1977."None>Tentori (1977)</a>, and <a href="#127" class="mim-tip-reference" title="Pich, P., Saglio, G., Camaschella, C., David, O., Vasino, M. A. C., Ricco, G., Mazza, U. <strong>Interaction between Hb Hasharon and alpha-thalassemia: an approach to the problem of the number of human alpha loci.</strong> Blood 51: 339-346, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/620088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">620088</a>]" pmid="620088">Pich et al. (1978)</a>. The family in which hemoglobin Sealy was found was Ashkenazi (<a href="#146" class="mim-tip-reference" title="Schneider, R. G., Ueda, S., Alperin, J. B., Brimhall, B., Jones, R. T. <strong>Hemoglobin Sealy (alpha-47 his-2 beta-2): a new variant in a Jewish family.</strong> Am. J. Hum. Genet. 20: 151-156, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5643179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5643179</a>]" pmid="5643179">Schneider et al., 1968</a>). (Hemoglobin Beilinson was also found in an Ashkenazi Jewish family and has a substitution of glycine for aspartic acid at alpha 47.) See <a href="#9" class="mim-tip-reference" title="Benesch, R. E., Kwong, S., Benesch, R. <strong>The effects of alpha chain mutations cis and trans to the beta-6 mutation on the polymerization of sickle cell haemoglobin.</strong> Nature 299: 231-234, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7110343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7110343</a>] [<a href="https://doi.org/10.1038/299231a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7110343">Benesch et al. (1982)</a>. This is a mutation of the HBA2 gene (<a href="#22" 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=620088+2752146+4448454+7110343+13968068+5713624+5587575+5643179+5794113+5780195" 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>.0013 HEMOGLOBIN MONTGOMERY</strong>
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HEMOGLOBIN BIRMINGHAM (USA)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41392146 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41392146;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=rs41392146" 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=rs41392146" 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=RCV000016914 OR RCV000016915 OR RCV000759782 OR RCV001826471 OR RCV004689421" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016914, RCV000016915, RCV000759782, RCV001826471, RCV004689421" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016914...</a>
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<p>See <a href="#16" class="mim-tip-reference" title="Brimhall, B., Jones, R. T., Schneider, R. G., Hosty, T. S., Tomlin, G., Atkins, R. <strong>Two new hemoglobins: hemoglobin Alabama beta 39 (C5) gln-to-lys and hemoglobin Montgomery alpha 48 (CD6) leu-to-arg.</strong> Biochim. Biophys. Acta 379: 28-32, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1115799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1115799</a>]" pmid="1115799">Brimhall et al. (1975)</a>, <a href="#66" class="mim-tip-reference" title="Huisman, T. H. J., Gravely, M. E., Wilson, J. B., Webber, B., Felice, A. E., Miller, A. <strong>Interaction of the beta chain variant hemoglobin Leslie and the alpha chain variant hemoglobin Montgomery in a black female.</strong> Am. J. Hemat. 8: 139-147, 1980."None>Huisman et al. (1980)</a>, and <a href="#112" class="mim-tip-reference" title="Mrad, A., Arous, N., Kastally, R., Blibech, R., Rosa, J., Galacteros, F. <strong>First observation of Hb Montgomery [alpha-48(CD6)leu-to-arg] in Tunisia.</strong> Hemoglobin 12: 67-70, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384700</a>] [<a href="https://doi.org/10.3109/03630268808996884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3384700">Mrad et al. (1988)</a>. The designation of this hemoglobin was changed to Hb Montgomery when it was discovered that Hb Birmingham had already been used for an alpha variant hemoglobin from Birmingham, England (Hb J Birmingham) (<a href="#147" class="mim-tip-reference" title="Schneider, R. G. <strong>Personal Communication.</strong> Galveston, Tex. 3/5/1974."None>Schneider, 1974</a>). This is a mutation of the HBA2 gene (<a href="#22" 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=2752146+1115799+3384700" 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>.0014 HEMOGLOBIN G (BRISTOL)</strong>
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HEMOGLOBIN G (KNOXVILLE)<br />
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HEMOGLOBIN G (PHILADELPHIA)<br />
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HEMOGLOBIN KNOXVILLE-1<br />
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HEMOGLOBIN STANLEYVILLE-I
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033601 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033601;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=rs111033601" 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=rs111033601" 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=RCV000016916 OR RCV000016917 OR RCV000016918 OR RCV000016919 OR RCV000016920 OR RCV000016921 OR RCV000016922 OR RCV000016923 OR RCV000016924" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016916, RCV000016917, RCV000016918, RCV000016919, RCV000016920, RCV000016921, RCV000016922, RCV000016923, RCV000016924" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016916...</a>
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<p>See <a href="#37" class="mim-tip-reference" title="Dherte, P., Vandepitte, J., Ager, J. A. M., Lehmann, H. <strong>Stanleyville I and II: two new variants of adult hemoglobin.</strong> Brit. Med. J. 2: 282-284, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13816361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13816361</a>] [<a href="https://doi.org/10.1136/bmj.2.5147.282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13816361">Dherte et al. (1959)</a>, <a href="#3" class="mim-tip-reference" title="Atwater, J., Schwartz, I. R., Tocantins, L. M. <strong>A variety of human hemoglobin with four distinct electrophoretic components.</strong> Blood 15: 901-908, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13795009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13795009</a>]" pmid="13795009">Atwater et al. (1960)</a>, <a href="#136" class="mim-tip-reference" title="Raper, A. B., Gammack, D. B., Huehns, E. R., Shooter, E. M. <strong>Four haemoglobins in one individual: a study of the genetic interaction of Hb-G and Hb-C.</strong> Brit. Med. J. 2: 1257-1261, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13739559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13739559</a>] [<a href="https://doi.org/10.1136/bmj.2.5208.1257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13739559">Raper et al. (1960)</a>, <a href="#6" class="mim-tip-reference" title="Baglioni, C., Ingram, V. M. <strong>Abnormal human hemoglobin. V. Chemical investigation of hemoglobins A, G, C, X from one individual.</strong> Biochim. Biophys. Acta 48: 253-265, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13685865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13685865</a>] [<a href="https://doi.org/10.1016/0006-3002(61)90475-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13685865">Baglioni and Ingram (1961)</a>, <a href="#45" 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>, <a href="#64" class="mim-tip-reference" title="Huehns, E. R., Shooter, E. M. <strong>The polypeptide chains of haemoglobin-A2 and haemoglobin-G2.</strong> J. Molec. Biol. 3: 257-262, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13716549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13716549</a>] [<a href="https://doi.org/10.1016/s0022-2836(61)80066-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13716549">Huehns and Shooter (1961)</a>, <a href="#104" class="mim-tip-reference" title="McCurdy, P. R., Pearson, H., Gerald, P. S. <strong>A new hemoglobinopathy of unusual genetic significance.</strong> J. Lab. Clin. Med. 58: 86-94, 1961."None>McCurdy et al. (1961)</a>, <a href="#108" class="mim-tip-reference" title="Minnich, V., Cordonnier, J. K., Williams, W. J., Moore, C. V. <strong>Alpha, beta and gamma hemoglobin polypeptide chains during the neonatal period with description of a fetal form of hemoglobin D alpha-St. Louis.</strong> Blood 19: 137-167, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14474345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14474345</a>]" pmid="14474345">Minnich et al. (1962)</a>, <a href="#174" class="mim-tip-reference" title="Weatherall, D. J., Sigler, A. T., Baglioni, C. <strong>Four hemoglobins in each of three brothers: genetic and biochemical significance.</strong> Bull. Johns Hopkins Hosp. 111: 143-156, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13999302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13999302</a>]" pmid="13999302">Weatherall et al. (1962)</a>, <a href="#32" class="mim-tip-reference" title="Dance, N., Huehns, E. R., Shooter, E. M. <strong>The chemical investigation of haemoglobins G Bristol and G Bristol-C.</strong> Biochim. Biophys. Acta 86: 144-148, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14166851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14166851</a>] [<a href="https://doi.org/10.1016/0304-4165(64)90168-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14166851">Dance et al. (1964)</a>, <a href="#27" class="mim-tip-reference" title="Chernoff, A. I., Pettit, N., Jr. <strong>The amino acid composition of hemoglobin. VI. Separation of the tryptic peptides of hemoglobin Knoxville no. 1 on Dowex-1 and Sephadex.</strong> Biochim. Biophys. Acta 97: 47-60, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14289041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14289041</a>] [<a href="https://doi.org/10.1016/0304-4165(65)90268-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14289041">Chernoff and Pettit (1965)</a>, <a href="#148" class="mim-tip-reference" title="Schroeder, W. A., Jones, R. T. <strong>Some aspects of the chemistry and function of human and animal hemoglobins.</strong> Fortschr. Chem. Org. Naturst. 23: 113-194, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5324987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5324987</a>] [<a href="https://doi.org/10.1007/978-3-7091-7139-4_4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5324987">Schroeder and Jones (1965)</a>, <a href="#142" class="mim-tip-reference" title="Sancar, G. B., Tatsis, B., Cedeno, M. M., Rieder, R. F. <strong>Proportion of hemoglobin G Philadelphia (alpha 68 asn-to-lys) in heterozygotes is determined by alpha-globin gene deletions.</strong> Proc. Nat. Acad. Sci. 77: 6874-6878, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6935689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6935689</a>] [<a href="https://doi.org/10.1073/pnas.77.11.6874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6935689">Sancar et al. (1980)</a>, <a href="#160" class="mim-tip-reference" title="Surrey, S., Ohene-Frempong, K., Rappaport, E., Atwater, J., Schwartz, E. <strong>Linkage of alpha (G-Philadelphia) to alpha-thalassemia in African-Americans.</strong> Proc. Nat. Acad. Sci. 77: 4885-4889, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6933536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6933536</a>] [<a href="https://doi.org/10.1073/pnas.77.8.4885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6933536">Surrey et al. (1980)</a>, <a href="#17" class="mim-tip-reference" title="Bruzdzinski, C. J., Sisco, K. L., Ferrucci, S. J., Rucknagel, D. L. <strong>The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome.</strong> Am. J. Hum. Genet. 36: 101-109, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6198906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6198906</a>]" pmid="6198906">Bruzdzinski et al. (1984)</a>, and <a href="#111" class="mim-tip-reference" title="Morle, F., Jaccoud, P., Dorleac, E., Motta, M., Delaunay, J., Godet, J. <strong>Alpha-globin gene deletions associated with alpha(A) and alpha(G Philadelphia) genes in an Algerian family that includes two Hb G homozygotes.</strong> Hum. Genet. 65: 303-307, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6199285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6199285</a>] [<a href="https://doi.org/10.1007/BF00286523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6199285">Morle et al. (1984)</a>. This is a mutation of the HBA2 gene (<a href="#22" 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=13999302+13816361+2752146+14289041+6199285+13685865+14166851+5324987+13739559+13795009+13716549+6935689+13703277+6198906+6933536+14474345" 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>.0015 HEMOGLOBIN INKSTER</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">rs41331747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41331747;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=rs41331747" 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=rs41331747" 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=RCV000016925 OR RCV000641307 OR RCV001284143" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016925, RCV000641307, RCV001284143" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016925...</a>
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<p>See <a href="#137" class="mim-tip-reference" title="Reed, R. E., Winter, W. P., Rucknagel, D. L. <strong>Haemoglobin Inkster (alpha 85 aspartic acid to valine) coexisting with beta-thalassaemia in a Caucasian family.</strong> Brit. J. Haemat. 26: 475-484, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4212045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4212045</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1974.tb00489.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4212045">Reed et al. (1974)</a>. This is a mutation of the HBA2 gene (<a href="#22" 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=2752146+4212045" 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="#1" class="mim-tip-reference" title="Aguinaga, M. P., Kutlar, F., Turner, E. A., Park, D. <strong>Hb Inkster (alpha-85(F6)asp-to-val) found in a Caucasian male with polycythemia.</strong> Hemoglobin 24: 333-339, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186265</a>] [<a href="https://doi.org/10.3109/03630260008993142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186265">Aguinaga et al. (2000)</a> found the same hemoglobin variant in a nonsmoking 49-year-old Caucasian male who presented with polycythemia (ECYT7; <a href="/entry/617981">617981</a>). The authors stated that this was the first report of Hb Inkster associated with polycythemia in a patient with an otherwise unexplained erythrocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186265" 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>(Polycythemia, erythrocytosis, and erythremia are synonyms meaning increased red blood cell mass. Authors use the terms interchangeably, although erythremia is now almost obsolete.)</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">rs33983416 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33983416;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=rs33983416" 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=rs33983416" 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=RCV000016895 OR RCV000641309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016895, RCV000641309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016895...</a>
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<p>In a 22-year-old white man who was undergoing assessment for erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>), <a href="#126" class="mim-tip-reference" title="Perry, M. C., Head, C., Fairbanks, V. F., Jones, R. T., Taylor, H., Proud, V. <strong>Hemoglobin Columbia Missouri or alpha(2)88 (F9) ala-to-val: a new high-oxygen-affinity hemoglobin that causes erythrocytosis.</strong> Mayo Clin. Proc. 66: 5-10, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988759</a>] [<a href="https://doi.org/10.1016/s0025-6196(12)61169-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1988759">Perry et al. (1991)</a> found a hemoglobin variant resulting from substitution of valine for alanine-88 in the alpha-2 chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1988759" 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>.0017 HEMOGLOBIN SUN PRAIRIE</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> rs41529844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41529844;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/rs41529844?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=rs41529844" 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=rs41529844" 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=RCV000016926 OR RCV000759053 OR RCV003234911 OR RCV005007857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016926, RCV000759053, RCV003234911, RCV005007857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016926...</a>
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<p><a href="#54" class="mim-tip-reference" title="Harkness, M., Harkness, D. R., Kutlar, F., Kutlar, A., Wilson, J. B., Webber, B. B., Codrington, J. F., Huisman, T. H. J. <strong>Hb Sun Prairie or alpha(2)130(H13)ala-to-pro, a new unstable variant occurring in low quantities.</strong> Hemoglobin 14: 479-489, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079430</a>] [<a href="https://doi.org/10.3109/03630269009005801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2079430">Harkness et al. (1990)</a> and <a href="#129" class="mim-tip-reference" title="Plaseska, D., Gu, L.-H., Wilson, J. B., Codrington, J. F., Huisman, T. H. J., Dash, S. <strong>Hb Sun Prairie or alpha(2)130(H13)ala-to-pro; second observation in an Indian adult.</strong> Hemoglobin 14: 491-497, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079431</a>] [<a href="https://doi.org/10.3109/03630269009005802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2079431">Plaseska et al. (1990)</a> identified this variant hemoglobin in an Asiatic Indian child and an Asiatic Indian adult, respectively. The child was apparently homozygous for a G-to-C mutation in codon 130 of the alpha-2-globin gene resulting in marked microcytosis and hypochromia. The patient reported by <a href="#129" class="mim-tip-reference" title="Plaseska, D., Gu, L.-H., Wilson, J. B., Codrington, J. F., Huisman, T. H. J., Dash, S. <strong>Hb Sun Prairie or alpha(2)130(H13)ala-to-pro; second observation in an Indian adult.</strong> Hemoglobin 14: 491-497, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079431</a>] [<a href="https://doi.org/10.3109/03630269009005802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2079431">Plaseska et al. (1990)</a> was heterozygous. The change at codon 130 was GCT-to-CCT. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2079430+2079431" 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="#59" class="mim-tip-reference" title="Ho, P. J., Rochette, J., Rees, D. C., Fisher, C. A., Huehns, E. R., Will, A. M., Thein, S. L. <strong>Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies.</strong> Hemoglobin 20: 103-112, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8811313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8811313</a>] [<a href="https://doi.org/10.3109/03630269609027915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8811313">Ho et al. (1996)</a> found Hb Sun Prairie in an Asian-Indian family in which 2 daughters were homozygous for this unstable alpha-2-globin variant. They showed chronic hemolysis, whereas the heterozygous parents were asymptomatic with a thalassemia carrier phenotype, distinct from the chronic hemolytic state previously described in a heterozygote. Unlike the earlier cases in which family studies were not available, this family clearly exhibited autosomal recessive inheritance, unusual among variants within the same region of helix H. Globin chain biosynthesis ratios initially suggested a beta-thalassemic hemoglobinopathy; this was excluded by normal sequence analysis of both beta-globin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8811313" 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="#144" class="mim-tip-reference" title="Sarkar, A. A., Mukhopadhyay, C., Chandra, S., Banerjee, S., Das, M. K., Dasgupta, U. B. <strong>Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5-prime-UTR in the eastern Indian population.</strong> Brit. J. Haemat. 129: 282-286, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15813858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15813858</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05451.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15813858">Sarkar et al. (2005)</a> studied the effects of coinheritance of the Hb Sun Prairie mutation with a point mutation in the 5-prime UTR on the same HBA2 chromosome in both heterozygous and homozygous states in the eastern Indian population. Depression of translation because of the second mutation of a conserved base in the 5-prime UTR was thought to account for clinical severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15813858" 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>.0018 HEMOGLOBIN BOYLE HEIGHTS</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">rs34623271 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34623271;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=rs34623271" 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=rs34623271" 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=RCV000016927" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016927" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016927</a>
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<p>See Johnson et al. (<a href="#71" class="mim-tip-reference" title="Johnson, C. S., Schroeder, W. A., Shelton, J. B., Shelton, J. R. <strong>Hemoglobin Boyle Heights: the first example of a deletion in the alpha chain. (Abstract)</strong> Blood 58 (suppl. 1): 54a, 1981."None>1981</a>, <a href="#72" class="mim-tip-reference" title="Johnson, C. S., Schroeder, W. A., Shelton, J. B., Shelton, J. R. <strong>The first example of a deletion in the human alpha chain: hemoglobin Boyle Heights or alpha(2)6(A4) asp-to-0.</strong> Hemoglobin 7: 125-140, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6671902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6671902</a>] [<a href="https://doi.org/10.3109/03630268309048642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6671902">1983</a>). Hb Boyle Heights was originally observed in an adult Mexican male. <a href="#182" class="mim-tip-reference" title="Zhao, W., Wilson, J. B., Huisman, T. H. J. <strong>Low quantities of Hb Boyle Heights or alpha-2 6 (A4) asp-to-del observed in three members of a Caucasian family.</strong> Hemoglobin 14: 637-640, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2101838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2101838</a>]" pmid="2101838">Zhao et al. (1990)</a> observed it in a Caucasian family living in South Carolina. They demonstrated that the mutation is in the major alpha-globin gene, Hb A(2). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6671902+2101838" 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>.0019 HEMOGLOBIN DAVENPORT</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">rs111033602 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033602;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=rs111033602" 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=rs111033602" 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">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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016928</a>
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<p><a href="#180" class="mim-tip-reference" title="Wilson, J. B., Webber, B. B., Plaseska, D., de Alarcon, P. A., McMillan, S. K., Huisman, T. H. J. <strong>Hb Davenport or alpha-2 78(EF7) asn-to-his.</strong> Hemoglobin 14: 599-605, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2101836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2101836</a>] [<a href="https://doi.org/10.3109/03630269009046968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2101836">Wilson et al. (1990)</a> found a new, stable alpha-chain variant in 2 members of a Caucasian family living in Iowa. Hematologic data were within normal limits. The hemoglobin moved between Hb A and Hb F in isoelectric focusing (IEF) and eluted slightly faster than Hb A2 in cation exchange HPLC. The family was of German descent. Replacement of asparagine by histidine at position 78 was identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2101836" 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>.0020 ALPHA-THALASSEMIA</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">rs111033603 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033603;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=rs111033603" 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=rs111033603" 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=RCV000016929 OR RCV003654177" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016929, RCV003654177" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016929...</a>
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<p><a href="#128" class="mim-tip-reference" title="Pirastu, M., Saglio, G., Chang, J. C., Cao, A., Kan, Y. W. <strong>Initiation codon mutation as a cause of alpha-thalassemia.</strong> J. Biol. Chem. 259: 12315-12317, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6490612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6490612</a>]" pmid="6490612">Pirastu et al. (1984)</a> demonstrated that a nondeletion form of alpha-thalassemia was due to an initiation codon mutation (AUG to ACG) changing methionine to threonine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6490612" 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="#4" class="mim-tip-reference" title="Ayala, S., Colomer, D., Aymerich, M., Pujades, A., Vives-Corrons, J. L. <strong>Nondeletional alpha-thalassemia: first description of alpha-Hph-alpha and alpha-Nco-alpha mutations in a Spanish population.</strong> Am. J. Hemat. 52: 144-149, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8756078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8756078</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8652(199607)52:3<144::AID-AJH3>3.0.CO;2-T" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8756078">Ayala et al. (1996)</a> studied 10 Spanish families with nondeletional alpha-thalassemia. In 9, they identified a 5-bp deletion at the donor site of IVS1; in 1 case, they identified the ATG-to-ACG transition in the initiation codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8756078" 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"><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>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016930" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016930" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016930</a>
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<p>In an American black woman with alpha-thalassemia, <a href="#94" class="mim-tip-reference" title="Liebhaber, S. A., Coleman, M. B., Adams, J. G., III, Cash, F. E., Steinberg, M. H. <strong>Molecular basis for nondeletion alpha-thalassemia in American blacks alpha-2(116GAG-to-UAG).</strong> J. Clin. Invest. 80: 154-159, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3597771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3597771</a>] [<a href="https://doi.org/10.1172/JCI113041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3597771">Liebhaber et al. (1987)</a> demonstrated a premature termination mutation at codon 116 (GAG to UAG) changing a glu residue to 'stop.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3597771" 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>.0022 HEMOGLOBIN H DISEASE, NONDELETIONAL</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">rs121909803 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909803;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=rs121909803" 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=rs121909803" 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> rs34220980 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34220980;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/rs34220980?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=rs34220980" 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=rs34220980" 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=RCV000016931 OR RCV001078242 OR RCV001284141 OR RCV005016274" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016931, RCV001078242, RCV001284141, RCV005016274" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016931...</a>
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<p>In a family ascertained on the basis of hemoglobin H disease (<a href="/entry/613978">613978</a>), <a href="#116" class="mim-tip-reference" title="Olivieri, N. F., Chang, L. S., Poon, A. O., Michelson, A. M., Orkin, S. H. <strong>An alpha-globin gene initiation codon mutation in a black family with Hb H disease.</strong> Blood 70: 729-732, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3620699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3620699</a>]" pmid="3620699">Olivieri et al. (1987)</a> found a new nondeletion form of alpha-thalassemia mutation, an A-to-G substitution in the initiation codon of the HBA2 gene that changed methionine to valine. This mutation abolished an NcoI restriction site and was therefore detectable in genomic DNA by Southern blot analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3620699" 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>.0023 HEMOGLOBIN HANAMAKI</strong>
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ERYTHROCYTOSIS 7, INCLUDED
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HBA2, LYS139GLU
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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> rs41361546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41361546;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/rs41361546?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=rs41361546" 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=rs41361546" 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=RCV000016932 OR RCV000641316" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016932, RCV000641316" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016932...</a>
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<p>In a 56-year-old Japanese female who by HPLC appeared to have an abnormally high level of Hb A(1c), <a href="#118" class="mim-tip-reference" title="Orisaka, M., Tajima, T., Harano, T., Harano, K., Kushida, Y., Imai, K. <strong>A new alpha chain variant, Hb Hanamaki or alpha(2)139(HC1)lys-to-glu-beta(2), found in a Japanese family.</strong> Hemoglobin 16: 67-71, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634363</a>] [<a href="https://doi.org/10.3109/03630269209005677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634363">Orisaka et al. (1992)</a> found a lys139-to-glu mutation. The mother and 1 of 3 brothers also had the abnormal hemoglobin. The mutation in Hb Tokoname (<a href="/entry/141800#0149">141800.0149</a>) resides in the same codon. The oxygen affinity properties of the 2 hemoglobins are similar. A second case of Hb Hanamaki was described by <a href="#135" class="mim-tip-reference" title="Rahbar, S., Lee, T. D., Davis, M., Novotny, W. F., Ranney, H. M. <strong>A second case of Hb Hanamaki [alpha-2-139(HC1)lys-to-glu] in an American family with erythrocytosis.</strong> Hemoglobin 18: 221-226, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7928378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7928378</a>] [<a href="https://doi.org/10.3109/03630269409043622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7928378">Rahbar et al. (1994)</a> in an American family with erythrocytosis (ECYT7; <a href="/entry/617981">617981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1634363+7928378" 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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<strong>.0024 ALPHA-THALASSEMIA-2, NONDELETIONAL</strong>
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HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
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HBA2, 3-UNT, A-G, +4
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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> rs63750067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750067;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/rs63750067?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=rs63750067" 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=rs63750067" 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=RCV000016933 OR RCV000022604 OR RCV000507591 OR RCV001831575 OR RCV002476983 OR RCV003989291 OR RCV004017256" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016933, RCV000022604, RCV000507591, RCV001831575, RCV002476983, RCV003989291, RCV004017256" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016933...</a>
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<span class="mim-text-font">
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<p>In a large family from southern Turkey, <a href="#181" class="mim-tip-reference" title="Yuregir, G. T., Aksoy, K., Curuk, M. A., Dikmen, N., Fei, Y.-J., Baysal, E., Huisman, T. H. J. <strong>Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.</strong> Brit. J. Haemat. 80: 527-532, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1581238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1581238</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1992.tb04568.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1581238">Yuregir et al. (1992)</a> observed nondeletional alpha-thalassemia-2 resulting from an A-to-G mutation at nucleotide 4 in the polyadenylation signal of the HBA2 gene: AATAAA to AATGAA. The same A-to-G replacement was present in the alpha-1 pseudogene. The mutation must cause a considerable alpha-chain deficiency as evidenced by the hematologic data in 5 members of a family with Hb H disease (<a href="/entry/613978">613978</a>) due to compound heterozygosity for alpha-thalassemia-1 and the newly discovered poly(A) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1581238" 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="0025" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0025 HEMOGLOBIN KURDISTAN</strong>
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HBA2, ASP47TYR
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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> rs281864834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864834;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/rs281864834?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=rs281864834" 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=rs281864834" 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">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=RCV000016934" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016934" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016934</a>
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</span>
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<p><a href="#46" class="mim-tip-reference" title="Giordano, P. C., Harteveld, C. L., Streng, H., Oosterwijk, J. C., Heister, J. G. A. M., Amons, R., Bernini, L. F. <strong>Hb Kurdistan [alpha47 (CE5) asp-to-tyr], a new alpha chain variant in combination with beta-thalassemia.</strong> Hemoglobin 18: 11-18, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195005</a>] [<a href="https://doi.org/10.3109/03630269409014141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8195005">Giordano et al. (1994)</a> reported a new alpha chain variant (Hb Kurdistan) in a 15-year-old Kurdish refugee girl and her family from Amdea, Iraq. Amplification and DNA analysis of both alpha genes indicated an asp-to-tyr substitution (GAC-to-TAC) at position 47 of the HBA2 gene. Replacement with the larger aromatic side chain of tyrosine at this position does not induce any significant instability in the hemoglobin molecule. In the proband's brother, this variant was associated with a beta-thalassemia nonsense mutation at codon 39. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195005" 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="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 AGRINIO</strong>
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HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
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HBA2, LEU29PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41341344 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41341344;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=rs41341344" 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=rs41341344" 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=RCV000016937 OR RCV000022605 OR RCV000759059 OR RCV004700242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016937, RCV000022605, RCV000759059, RCV004700242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016937...</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 Agrinio was discovered by <a href="#50" class="mim-tip-reference" title="Hall, G. W., Thein, S. L., Newland, A. C., Chisholm, M., Traeger-Synodinos, J., Higgs, D. R. <strong>A novel mutation (T-to-C) in codon 29 of the alpha-2 globin gene produces a structural haemoglobin variant and alpha-thalassaemia. (Abstract)</strong> Brit. J. Haemat. 84 (suppl. 1): 63, 1993."None>Hall et al. (1993)</a> in 3 individuals of Greek origin with an atypical form of Hb H disease (<a href="/entry/613978">613978</a>) characterized by a severe hypochromic, microcytic anemia. <a href="#50" class="mim-tip-reference" title="Hall, G. W., Thein, S. L., Newland, A. C., Chisholm, M., Traeger-Synodinos, J., Higgs, D. R. <strong>A novel mutation (T-to-C) in codon 29 of the alpha-2 globin gene produces a structural haemoglobin variant and alpha-thalassaemia. (Abstract)</strong> Brit. J. Haemat. 84 (suppl. 1): 63, 1993."None>Hall et al. (1993)</a> indicated that the mutation consisted of a T-to-C transition in codon 29 of the HBA2 gene causing a leucine-to-proline transition. Although each affected individual was a compound heterozygote for Hb Agrinio and a previously described mutation affecting the poly(A) addition signal of the HBB gene (<a href="/entry/141900#0383">141900.0383</a>), simple heterozygotes for the leu29-to-pro mutation have the phenotype of the alpha-thalassemia trait.</p><p><a href="#165" class="mim-tip-reference" title="Traeger-Synodinos, J., Metaxotou-Mavromati, A., Kanavakis, E., Vrettou, C., Papassotiriou, I., Michael, T., Kattamis, C. <strong>An alpha-thalassemic hemoglobinopathy: homozygosity for the Hb Agrinio alpha-2-globin chain variant.</strong> Hemoglobin 22: 209-215, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9629496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9629496</a>] [<a href="https://doi.org/10.3109/03630269809113135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9629496">Traeger-Synodinos et al. (1998)</a> reported the first case of homozygosity for Hb Agrinio. The leu29-to-pro amino acid substitution in alpha-2-globin was caused by a CTG-to-CCG transition. The 12-month-old Greek proband presented with marked hypochromic microcytic anemia, a very low level of Hb H, rare Hb H inclusions, and a balanced alpha/non-alpha biosynthesis ratio. At the age of 13 years, the proband had a clinical phenotype compatible with mild thalassemia intermedia with moderate anemia (Hb = 7-8 g/dL), normal growth and development, slight splenomegaly, and minimal bone changes, while Hb H and inclusion bodies were not detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9629496" 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>.0027 HEMOGLOBIN PAKSE</strong>
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HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
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HBA2, TER142TYR
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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> rs41412046 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41412046;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/rs41412046?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=rs41412046" 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=rs41412046" 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=RCV000016938 OR RCV000508511 OR RCV001831576" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016938, RCV000508511, RCV001831576" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016938...</a>
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<p>In a Laotian girl with hemoglobin H disease (<a href="/entry/613978">613978</a>), <a href="#173" class="mim-tip-reference" title="Waye, J. S., Eng, B., Patterson, M., Chui, D. H. K., Olivieri, N. F. <strong>Identification of a novel termination codon mutation (TAA-to-TAT, term-to-tyr) in the alpha-2-globin gene of a Laotian girl with hemoglobin H disease. (Letter)</strong> Blood 83: 3418-3420, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8193381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8193381</a>]" pmid="8193381">Waye et al. (1994)</a> found a TAA-to-TAT mutation converting the termination codon to a tyrosine residue. The mutation gave rise to an elongated mRNA that would code for an alpha-globin chain of 172 amino acid residues instead of the normal 141 residues. The proband's father also carried the mutation. The proband was a compound heterozygote for the Southeast Asian alpha-thalassemia-1 deletion and the novel termination codon mutation. Four previous mutations involving the termination codon of the alpha-2-globin gene had been reported: Hb Constant Spring (<a href="#0001">141850.0001</a>); Hb Icaria (<a href="#0002">141850.0002</a>); Hb Koya Dora (<a href="#0003">141850.0003</a>); and Hb Seal Rock (<a href="#0028">141850.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8193381" 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>.0028 HEMOGLOBIN SEAL ROCK</strong>
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HBA2, TER142GLU
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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> rs41464951 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41464951;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/rs41464951?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=rs41464951" 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=rs41464951" 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=RCV000016939 OR RCV000759054 OR RCV001275682" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016939, RCV000759054, RCV001275682" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016939...</a>
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<p>Hemoglobin Seal Rock carries a TAA-to-GAA mutation that converts the termination codon of the HBA2 gene to glu (<a href="#12" class="mim-tip-reference" title="Bradley, T. B., Wehl, R. C., Smith, G. J. <strong>Elongation of the alpha globin chain in a black family: interaction with Hb G Philadelphia. (Abstract)</strong> Clin. Res. 23: 131A, 1975."None>Bradley et al., 1975</a>; <a href="#18" class="mim-tip-reference" title="Bunn, H. F., Forget, B. G. <strong>Hemoglobin: Molecular, Genetic and Clinical Aspects.</strong> Philadelphia: W. B. Saunders (pub.) 1986. P. 408."None>Bunn and Forget, 1986</a>). Like 4 other mutations in the termination codon of the HBA2 gene, the mutant allele codes for an alpha-chain variant of 172 amino acid residues that result in unstable elongated mRNA molecules.</p>
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<strong>.0029 HEMOGLOBIN ANAMOSA</strong>
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HBA2, ALA111VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928889 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928889;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=rs28928889" 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=rs28928889" 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> rs41457351 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41457351;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/rs41457351?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=rs41457351" 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=rs41457351" 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=RCV000016940" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016940" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016940</a>
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<p>So-called 'silent' hemoglobin variants are characterized by the replacement of an amino acid with one having a similar charge. These are usually detected by separations in isoelectric focusing or HPLC because of differences in hydrophobicity. The substitution occasionally may affect the function of physicochemical properties of the variant to determine the clinical or hematologic condition of its carrier. <a href="#75" 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-beta(2) (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> identified an ala111-to-val substitution in the core peptide of HBA2 due to a change from GCC to GTC. The variant was discovered in a Caucasian baby born in the Anamosa Community Hospital in Anamosa, Iowa, and in his father. Stability tests on all red cell lysates gave negative results, indicating stability of the variant hemoglobin. <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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<a id="0030" class="mim-anchor"></a>
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<strong>.0030 HEMOGLOBIN BIBBA</strong>
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HEINZ BODY ANEMIA, 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">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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<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>
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<p>In a large Caucasian family, <a href="#131" class="mim-tip-reference" title="Prchal, J. T., Adler, B., Wilson, J. B., Baysal, E., Qin, W.-B., Molchanova, T. P., Pobedimskaya, D. D., Kazanetz, E. G., Huisman, T. H. J. <strong>Hb Bibba or alpha(2)136(H19)leu-to-pro-beta(2) in a Caucasian family from Alabama.</strong> Hemoglobin 19: 151-164, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558871</a>] [<a href="https://doi.org/10.3109/03630269509036935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558871">Prchal et al. (1995)</a> found that members with congenital Heinz body hemolytic anemia (<a href="/entry/140700">140700</a>) were carriers of Hb Bibba. Instability of the variant complicated isolation of the protein from shipped blood samples. The mutation at codon 136 of the alpha-2 gene resulted in a change from CTG to CCG and a leu136-to-pro substitution. The first Hb Bibba heterozygote, characterized in 1968 by <a href="#78" 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>, was believed to be a member of this family. The clinical expression of the disease was surprisingly variable in severity. Affected persons in 4 generations of the Alabama family had been observed. (Note that the mutation here is located in the HBA2 gene rather than in the HBA1 gene, as previously indicated in <a href="/entry/141800#0011">141800.0011</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7558871+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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<strong>.0031 HEMOGLOBIN SALLANCHES</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"><span class="text-primary">●</span> rs41417548 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41417548;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/rs41417548?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=rs41417548" 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=rs41417548" 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=RCV000016942 OR RCV000022606 OR RCV001811170 OR RCV002051787 OR RCV004595884 OR RCV005007858" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016942, RCV000022606, RCV001811170, RCV002051787, RCV004595884, RCV005007858" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016942...</a>
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<p><a href="#110" class="mim-tip-reference" title="Morle, F., Francina, A., Ducrocq, R., Wajcman, H., Gonnet, C., Philippe, N., Souillet, G., Godet, J. <strong>A new alpha chain variant Hb Sallanches [alpha-2 104(G11)cys-to-tyr] associated with HbH disease in one homozygous patient.</strong> Brit. J. Haemat. 91: 608-611, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8555062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8555062</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb05355.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8555062">Morle et al. (1995)</a> found homozygosity for a mutation in the HBA2 gene resulting in hemolytic anemia associated with a low level of hemoglobin H. The mutation was a TGC-to-TAC transition involving codon 104 and resulting in replacement of a cysteine by tyrosine. In vitro and in vivo biosynthetic studies suggested that the mechanism leading to Hb H disease (<a href="/entry/613978">613978</a>) in this homozygous patient was related mostly to a significant instability of the dimers between normal beta chains and variant alpha chains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8555062" 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="#76" class="mim-tip-reference" title="Khan, S. N., Butt, F. I., Riazuddin, S., Galanello, R. <strong>Hb Sallanches [alpha-104(G11)cys-tyr]: a rare alpha-2-globin chain variant found in the homozygous state in three members of a Pakistani family.</strong> Hemoglobin 24: 31-35, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10722113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10722113</a>] [<a href="https://doi.org/10.3109/03630260009002271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10722113">Khan et al. (2000)</a> identified Hb Sallanches in a Pakistani family having 3 homozygous patients with transfusion-dependent Hb H disease. The 2 previous reports had been of a French patient and a West Indian patient. The Pakistani cases were thought to have originated as an independent mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10722113" 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>.0032 ALPHA-THALASSEMIA TRAIT</strong>
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HBA2, 9-BP DEL/8-BP INS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776826;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=rs587776826" 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=rs587776826" 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=RCV000016943" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016943" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016943</a>
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<p><a href="#41" class="mim-tip-reference" title="Efstratiadis, A., Posakony, J. W., Maniatis, T., Lawn, R. M., O'Connell, C., Spritz, R. A., DeRiel, J. K., Forget, B. G., Weissman, S. M., Slightom, J. L., Blechl, A. E., Smithies, O., Baralle, F. E., Shoulders, C. C., Proudfoot, N. J. <strong>The structure and evolution of the human beta-globin gene family.</strong> Cell 21: 653-668, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6985477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6985477</a>] [<a href="https://doi.org/10.1016/0092-8674(80)90429-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6985477">Efstratiadis et al. (1980)</a> suggested that slipped strand mispairing (SSM) is enhanced by short (2 to 8) direct repeats, which may induce short deletions in mammalian DNA. SSM was later suggested to play an important in the expansion of trinucleotide repeats, causing neurodegenerative disorders such as spinocerebellar ataxia and Huntington disease. In addition, the size variation of microsatellite repeats, such as polymorphic markers, is also thought to result from SSM. SSM probably also leads to the variability in microsatellite repeats seen in tumor cells, reflecting the high degree of genomic instability in those tissues. Thus, SSM appears to be occur both in germline and in somatic cells. Slippage of the replication fork is not in itself sufficient to explain the more complex mutations in which small deletions are combined with insertions. <a href="#120" class="mim-tip-reference" title="Oron-Karni, V., Filon, D., Rund, D., Oppenheim, A. <strong>A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha-2-globin gene.</strong> Hum. Molec. Genet. 6: 881-885, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9175734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9175734</a>] [<a href="https://doi.org/10.1093/hmg/6.6.881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9175734">Oron-Karni et al. (1997)</a> described a deletion/duplication mutation in the HBA2 gene that allowed them to formulate a novel mechanism accounting for the generation of this mutation, as well as a number of other human mutations. They found a deletion of 9 bp (codons 39 to 41), which was replaced by a nucleotide insertion, duplicating the adjacent downstream sequence. They proposed that the mutation arose by SSM, creating a single-stranded loop, followed by DNA elongation, strand breathing, and the formation of a mismatch bubble. They found in the literature 6 additional deletion/insertion mutations in humans in which the inserted nucleotides came from the same DNA strand. Their model explained all 6 mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon. The patients in whom they made their initial observations were 2 unrelated individuals of Yemenite-Jewish origin, referred for evaluation of unexplained mild microcytic anemia. The hematologic data were compatible with alpha-thalassemia trait. Because of the rarity of the mutation and the fact that it had been found only in the 2 individuals of Yemenite-Jewish origin, The subjects may have had a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6985477+9175734" 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>.0033 HEMOGLOBIN NATAL</strong>
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HBA2, TYR140TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41507451 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41507451;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=rs41507451" 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=rs41507451" 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=RCV000016944" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016944" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016944</a>
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<p>See <a href="#70" class="mim-tip-reference" title="Jogessar, V. B., Westermeyer, K., Webber, B. B., Wilson, J. B., Hu, H., Gonzalez-Redondo, J. M., Kutlar, A., Huisman, T. H. J. <strong>Hb Natal or alpha(minus tyr-arg), a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC-to-TAA (tyr terminating codon) mutation in codon alpha 140.</strong> Biochim. Biophys. Acta 951: 36-41, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3191134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3191134</a>] [<a href="https://doi.org/10.1016/0167-4781(88)90022-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3191134">Jogessar et al. (1988)</a>. This variant resulted from a TAC (tyr)-to-TAA (stop) transversion in codon 140 of the alpha-globin gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3191134" 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>.0034 HEMOGLOBIN WATTS</strong>
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HBA2, 3-BP DEL, ASP74DEL OR ASP75DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750943 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750943;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=rs63750943" 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=rs63750943" 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=RCV000016945" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016945" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016945</a>
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<p><a href="#134" class="mim-tip-reference" title="Rahbar, S., Lee, C., Fairbanks, V. F., McCormick, D. J., Kubik, K., Madden, B. J., Nozari, G. <strong>Hb Watts (alpha-74(EF3) or alpha-75(EF4)asp-to-0): A shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha-2-globin gene.</strong> Hemoglobin 21: 321-330, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9255611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9255611</a>] [<a href="https://doi.org/10.3109/03630269709000665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9255611">Rahbar et al. (1997)</a> described the first example of a trinucleotide deletion in the HBA2 gene. In a Mexican-American family, they found that a slightly unstable alpha-chain hemoglobin variant was due to deletion of an aspartic acid residue through the deletion of GAC at codon 74 or codon 75 of the HBA2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9255611" 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>.0035 HEMOGLOBIN CONAKRY</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">rs41466346 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41466346;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=rs41466346" 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=rs41466346" 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=RCV000016946" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016946" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016946</a>
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<p><a href="#30" class="mim-tip-reference" title="Cohen-Solal, M., Prehu, C., Wajcman, H., Poyart, C., Bardakdjian-Michau, J., Kister, J., Prome, D., Valentin, C., Bachir, D., Galacteros, F. <strong>A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry) and an alpha-2 globin gene variant (Hb Conakry).</strong> Brit. J. Haemat. 103: 950-956, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9886305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9886305</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.01094.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9886305">Cohen-Solal et al. (1998)</a> studied a Guinean woman who was heterozygous for hemoglobin S and had episodes of marked anemia, repeated typical metaphyseal painful crises, and hemosiderosis. Her sickling syndrome resulted from the association of Hb S trait with a severe pyruvate kinase (PK) deficiency (<a href="/entry/266200">266200</a>) leading to a 2,3-diphosphoglycerate (DPG) concentration of twice normal. Sequencing of the PKLR gene revealed a previously undescribed mutation within exon 5: a 2670C-A transversion, leading to a ser130-to-tyr amino acid substitution (<a href="/entry/609712#0010">609712.0010</a>), which the authors referred to as 'PK Conakry.' In addition, the patient carried a new hemoglobin variant, leu80 to val, referred to as 'Hb Conakry,' which seemed to have a mild effect. The high intraerythrocytic 2,3-DPG concentration induced by the PK deficiency resulted in a decreased oxygen affinity which favored sickling to a level almost similar to that of S/C compound heterozygous patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9886305" 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">rs41461652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41461652;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=rs41461652" 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=rs41461652" 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=RCV000016947 OR RCV001811171" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016947, RCV001811171" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016947...</a>
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<p>See <a href="#162" class="mim-tip-reference" title="Tangheroni, W., Zorcolo, G., Gallo, E., Lehmann, H. <strong>Haemoglobin J (Sardegna): alpha 50(CD8) histidine-to-aspartic acid.</strong> Nature 218: 470-471, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5649699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5649699</a>] [<a href="https://doi.org/10.1038/218470a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5649699">Tangheroni et al. (1968)</a> and <a href="#99" class="mim-tip-reference" title="Manca, L., Masala, B. <strong>Identification of Hb J-Sardegna (alpha50 (CE8) his-to-asp) by HPLC and its incidence in Northern Sardinia.</strong> Hemoglobin 13: 33-44, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2703364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2703364</a>] [<a href="https://doi.org/10.3109/03630268908998051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2703364">Manca and Masala (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5649699+2703364" 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="#123" class="mim-tip-reference" title="Paleari, R., Paglietti, E., Mosca, A., Mortarino, M., Maccioni, L., Satta, S., Cao, A., Galanello, R. <strong>Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna (alpha-50(CD8)his-asn-asp).</strong> Clin. Chem. 45: 21-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9895333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9895333</a>]" pmid="9895333">Paleari et al. (1999)</a> provided molecular characterization of hemoglobin J (Sardegna), which is particularly widespread in northern Sardinia. They characterized the variant at the DNA level as a change of codon 50 of the HBA2 gene from CAC to AAC, predicting a his-to-asn substitution. Protein analysis, however, showed a his-to-asp substitution in the same position. A possible explanation for these findings is that a C-to-A mutation caused the substitution of his for asn, and that the new asn residue subsequently underwent a posttranslational partial deamidation to asp. Indeed, <a href="#123" class="mim-tip-reference" title="Paleari, R., Paglietti, E., Mosca, A., Mortarino, M., Maccioni, L., Satta, S., Cao, A., Galanello, R. <strong>Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna (alpha-50(CD8)his-asn-asp).</strong> Clin. Chem. 45: 21-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9895333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9895333</a>]" pmid="9895333">Paleari et al. (1999)</a> identified both the asp and the asn forms of Hb J (Sardegna). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9895333" 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 addition to J (Sardegna), 6 other rare Hb variants had been reported in which deamidation of an asn residue to an asp occurred as a spontaneous posttranslational modification: Hb J (Singapore) (<a href="/entry/141800#0075">141800.0075</a>), Hb La Roche-sur-Yon (<a href="/entry/141900#0482">141900.0482</a>), Hb Osler (<a href="/entry/141900#0211">141900.0211</a>), Hb Providence (<a href="/entry/141900#0227">141900.0227</a>), Hb Redondo (<a href="/entry/141900#0404">141900.0404</a>), and Hb Wayne (<a href="#0004">141850.0004</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"><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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016948 OR RCV001284150 OR RCV004689422 OR RCV005016275" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016948, RCV001284150, RCV004689422, RCV005016275" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016948...</a>
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<p><a href="#125" class="mim-tip-reference" title="Perea, F. J., Zamudio, G., Meillon, L. A., Ibarra, B. <strong>The Hb Tarrant (alpha-126(H9)asp-to-asn) mutation is localized in the alpha-2-globin gene.</strong> Hemoglobin 23: 295-297, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10490145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10490145</a>] [<a href="https://doi.org/10.3109/03630269909005713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10490145">Perea et al. (1999)</a> provided the molecular characterization of a hemoglobin variant in a Mexican family. Located in the HBA2 gene, an asp126-to-asn amino acid substitution resulted in a variant with high oxygen affinity. Previously described in 4 families with Mexican ancestors, the variant was known as Hb Tarrant (<a href="#109" class="mim-tip-reference" title="Moo-Penn, W. F., Jue, D. L., Johnson, M. H., Wilson, S. M., Therrell, B., Jr., Schmidt, R. M. <strong>Hemoglobin Tarrant: alpha 126 (H9) asp-to-asn. A new hemoglobin variant in the alpha-1beta-1 contact region showing high oxygen affinity and reduced cooperativity.</strong> Biochim. Biophys. Acta 490: 443-451, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13856</a>] [<a href="https://doi.org/10.1016/0005-2795(77)90019-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13856">Moo-Penn et al., 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13856+10490145" 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">rs33981821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33981821;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=rs33981821" 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=rs33981821" 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=RCV000016949" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016949" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016949</a>
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<p>During a systematic hematologic study, <a href="#77" class="mim-tip-reference" title="Kister, J., Prehu, C., Riou, J., Godart, C., Bardakdjian, J., Prome, D., Galacteros, F., Wajcman, H. <strong>Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)val-to-gly] and Hb Barbizon [beta144(HC1)lys-to-met].</strong> Hemoglobin 23: 21-32, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10081983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10081983</a>] [<a href="https://doi.org/10.3109/03630269908996145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10081983">Kister et al. (1999)</a> identified a val1-to-gly mutation in the HBA2 gene in a 24-year-old woman who came from Madagascar. The mutation is a clinically silent variant in which the structural modification disturbs the oxygen-linked chloride binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10081983" 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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<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> rs41378349 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41378349;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/rs41378349?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=rs41378349" 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=rs41378349" 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=RCV000016950" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016950" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016950</a>
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<p><a href="#82" 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> found Hb Boghe in a 12-month-old girl who was treated for malignant histiocytosis at 9 months of age and received a bone marrow transplant from her sister. Hb Boghe was undetectable by isoelectrofocusing and high performance liquid chromatography of hemoglobins. It was only revealed by polyacrylamide gel electrophoresis of globin chains in the presence of urea-Triton X-100 and accounted for 10% of the total hemoglobin. The amino acid change resulted from a CAC-to-CAA mutation in codon 58. <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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<a id="0040" class="mim-anchor"></a>
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<strong>.0040 HEMOGLOBIN TOULON</strong>
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HBA2, PRO77HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864861 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864861;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=rs281864861" 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=rs281864861" 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">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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016951" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016951" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016951</a>
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<p>In 2 apparently unrelated diabetic women living in different parts of France, <a href="#5" class="mim-tip-reference" title="Badens, C., Lena-Russo, D., Lacan, P., Francina, A., Prome, D., Riou, J., Geoffroy, M., Ayavou, T., Kister, J., Galacteros, F., Wajcman, H. <strong>Hb Toulon (alpha-77(EF6)pro-to-his): a new variant due to a mutation in the alpha-2 gene found during measurement of glycated hemoglobin.</strong> Hemoglobin 23: 367-371, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10569726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10569726</a>] [<a href="https://doi.org/10.3109/03630269909090753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10569726">Badens et al. (1999)</a> found a hemoglobin variant during chromatographic measurement of glycated Hb. Codon 77 of the HBA2 gene was found to be changed from CCC (pro) to CAC (his). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10569726" 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="#171" class="mim-tip-reference" title="Waye, J. S., Eng, B., Chui, D. H. K., Powers, P. J., Lafferty, J. D. <strong>Second report of Hb Toulon (alpha-77(EF6)pro-to-his) in a Canadian family of Italian descent.</strong> Hemoglobin 24: 359-360, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186269</a>] [<a href="https://doi.org/10.3109/03630260008993146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186269">Waye et al. (2000)</a> reported a second instance of Hb Toulon in a Canadian family of Italian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186269" 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="#20" class="mim-tip-reference" title="Caruso, D., Da Riva, L., Giavarini, F., Galli, G., Brambilla, S., Luraschi, P., Franzini, C. <strong>A hemoglobin variant found during glycohemoglobin measurement, identified as Hb Toulon [alpha-77(EF6)pro-to-his] by tandem mass spectrometry.</strong> Hemoglobin 26: 197-199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144065</a>] [<a href="https://doi.org/10.1081/hem-120005460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144065">Caruso et al. (2002)</a> described what they referred to as the first Italian case of Hb Toulon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144065" 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="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 CAMPINAS</strong>
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</h4>
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HBA2, ALA26VAL
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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> rs281864822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864822;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/rs281864822?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=rs281864822" 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=rs281864822" 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> 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=RCV000016952" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016952" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016952</a>
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<p><a href="#177" class="mim-tip-reference" title="Wenning, M. R. S. C., Silva, N. M., Jorge, S. B., Kimura, E. M., Costa, F. F., Torsoni, M. A., Ogo, S. H., Sonati, M. F. <strong>Hb Campinas (alpha-26(B7)ala-to-val): a novel, electrophoretically silent, variant.</strong> Hemoglobin 24: 143-148, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10870886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10870886</a>] [<a href="https://doi.org/10.3109/03630260009003434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10870886">Wenning et al. (2000)</a> identified an electrophoretically silent hemoglobin variant in a healthy 9-year-old Caucasian Brazilian boy and his mother. The variant, which the authors called Hb Campinas, was a single base substitution at codon 26 of the alpha-2 globin gene: GCG (ala) to GTG (val). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10870886" 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="0042" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0042 HEMOGLOBIN NIKAIA</strong>
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HBA2, HIS20ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864814 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864814;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=rs281864814" 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=rs281864814" 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">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>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016953" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016953" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016953</a>
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<p><a href="#132" class="mim-tip-reference" title="Prehu, C., Godart, C., Riou, J., Soummer, A. M., Prome, D., Galacteros, F., Wajcman, H. <strong>Nb Nikaia (alpha-20(B1)his-to-asp): a new variant of the alpha-2 gene.</strong> Hemoglobin 24: 305-309, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186260</a>] [<a href="https://doi.org/10.3109/03630260008993137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186260">Prehu et al. (2000)</a> identified Hb Nikaia, a CAC-to-GAC change in the HBA2 gene resulting in a his20-to-asp substitution, in a 50-year-old French Caucasian man during measurement of glycated hemoglobin. The name of the variant was derived from the ancient Greek name of the city of Nice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186260" 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="0043" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0043 HEMOGLOBIN CLINICO-MADRID</strong>
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HBA2, LYS90ARG
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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> rs281864873 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864873;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/rs281864873?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=rs281864873" 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=rs281864873" 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">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=RCV000016935" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016935" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016935</a>
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<p>In a newborn in Madrid, Spain, <a href="#168" class="mim-tip-reference" title="Villegas, A., Hojas, R., Noguera, N., Ropero, P., Sanchez, J., Gonzalez, F. A., Benavente, C., Espinos, D. <strong>Hb Clinico-Madrid (alpha-90(FG2)lys-to-arg): a new hemoglobin mutation in the alpha-2-globin gene.</strong> Hemoglobin 24: 341-345, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186266</a>] [<a href="https://doi.org/10.3109/03630260008993143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186266">Villegas et al. (2000)</a> found an A-to-G transition in exon 2 of the HBA2 gene, changing codon 90 from AAG (lys) to AGG (arg). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186266" 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="0044" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0044 HEMOGLOBIN CLINICO-MADRID</strong>
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HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
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HBA2, IVS2AS, G-A, -1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776827;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=rs587776827" 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=rs587776827" 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=RCV000016954 OR RCV000022607 OR RCV001078244 OR RCV002496386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016954, RCV000022607, RCV001078244, RCV002496386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016954...</a>
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<span class="mim-text-font">
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<p>In an Argentinian patient with Hb H disease (<a href="/entry/613978">613978</a>) and her daughter, <a href="#115" class="mim-tip-reference" title="Noguera, N. I., Gonzalez, F. A., Davoli, R. A., Milani, A. C., Villegas, A. <strong>A novel splice acceptor site mutation of the alpha-2-globin gene causing alpha-thalassemia.</strong> Hemoglobin 25: 311-315, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570724</a>] [<a href="https://doi.org/10.1081/hem-100105224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11570724">Noguera et al. (2001)</a> found a splice acceptor consensus point mutation changing AG to AA in intron 2. Their patient was of Arab and Italian ancestry. The phenotypic expression observed in the heterozygote, namely microcytic erythrocytes, slightly hypochromic, was rather more severe than in individuals with a deleted gene. This observation was thought to be in accord with the fact that the mutation affects HBA2, whose level of expression is 3 times higher than that of the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11570724" 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="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 DARTMOUTH</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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HBA2, LEU66PRO
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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">rs41323248 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41323248;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=rs41323248" 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=rs41323248" 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=RCV000016955 OR RCV004767010" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016955, RCV004767010" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016955...</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#103" class="mim-tip-reference" title="McBride, K. L., Snow, K., Kubik, K. S., Fairbanks, V. F., Hoyer, J. D., Fairweather, R. B., Chaffee, S., Edwards, W. H. <strong>Hb Dartmouth (alpha-66(E15)leu-to-pro (alpha-2)(CTG-to-CCG)): a novel alpha-2-globin gene mutation associated with severe neonatal anemia when inherited in trans without Southeast Asian alpha-thalassemia-1.</strong> Hemoglobin 25: 375-382, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791870</a>] [<a href="https://doi.org/10.1081/hem-100107874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791870">McBride et al. (2001)</a> reported a mutation in monozygotic twins and designated it Hb Dartmouth, after the medical center at which the patients were cared for. The mother, of Khmer ancestry, was heterozygous for alpha-thalassemia-1 due to deletion of both HBA1 and HBA2, common in Southeast Asians. The father, of Scottish-Irish ancestry, was a silent carrier of a leu66-to-pro mutation of the HBA2 gene. The twins had severe neonatal anemia requiring transfusion and were compound heterozygotes for the 2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791870" 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="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 GERLAND</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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HBA2, VAL55ALA
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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">rs63749934 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749934;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=rs63749934" 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=rs63749934" 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=RCV000016956" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016956" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016956</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 studies of a 6-year-old boy with mild microcytic anemia, <a href="#80" class="mim-tip-reference" title="Lacan, P., Aubry, M., Couprie, N., Francina, A. <strong>Hb Gerland (alpha-55(E4)val-to-ala (alpha-2)): a new neutral alpha-chain variant involving the alpha-2 gene.</strong> Hemoglobin 25: 417-420, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791875</a>] [<a href="https://doi.org/10.1081/hem-100107879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791875">Lacan et al. (2001)</a> found a neutral alpha-chain variant involving the HBA2 gene and designated it Hb Gerland. A GTT-to-GCT mutation of codon 55 was predicted to result in a substitution of alanine for valine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791875" 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="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 MANITOBA</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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HBA2, SER102ARG
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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> rs34098449 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34098449;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/rs34098449?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=rs34098449" 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=rs34098449" 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">rs41344646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41344646;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=rs41344646" 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=rs41344646" 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=RCV000016957 OR RCV001811172" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016957, RCV001811172" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016957...</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 Manitoba (ser102 to arg) was discovered in a Canadian family by <a href="#31" class="mim-tip-reference" title="Crookston, J. H., Farquharson, H. A., Kinderlerer, J. L., Lehmann, H. <strong>Hemoglobin Manitoba: alpha-102(G9)serine replaced by arginine.</strong> Canad. J. Biochem. 48: 911-914, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5452728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5452728</a>] [<a href="https://doi.org/10.1139/o70-142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5452728">Crookston et al. (1970)</a> and was subsequently found in an Italian patient by <a href="#149" 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 beta(2) and hemoglobin Contaldo or alpha(2)103(G10)his-to-arg beta(2) 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="#24" class="mim-tip-reference" title="Chang, J.-G., Shih, M.-C., Liu, S.-C., Chan, W.-L., Peng, C.-T. <strong>Hb Manitoba in a Taiwanese family: a C-to-A substitution at codon 102 of the alpha-2-globin gene.</strong> Hemoglobin 25: 437-439, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791879</a>] [<a href="https://doi.org/10.1081/hem-100107883" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791879">Chang et al. (2001)</a> observed the same variant for the first time in an Asian family in Taiwan. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5452728+6547932+11791879" 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="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 PARK RIDGE</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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HBA2, 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">rs111033604 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033604;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=rs111033604" 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=rs111033604" 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">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=RCV000016936 OR RCV001811169 OR RCV001826472" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016936, RCV001811169, RCV001826472" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016936...</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 apparently well, 6-month-old Caucasian child, <a href="#61" class="mim-tip-reference" title="Hoyer, J. D., McCormick, D. J., Snow, K., Kwon, J. H., Booth, D., Duarte, M., Grayson, G., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha-9(A7)asn-to-lys (alpha2)], Hb Norton [alpha-72(EF1)his-to-asp (alpha2)], Hb Lombard [alpha-103(G10)his-to-tyr (alpha2)], and Hb San Antonio [alpha-113(GH2)leu-to-arg (alpha2)].</strong> Hemoglobin 26: 175-179, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144061</a>] [<a href="https://doi.org/10.1081/hem-120005456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144061">Hoyer et al. (2002)</a> found an AAC-to-AAG transversion in codon 9 of the HBA2 gene resulting in an asn9-to-lys (N9K) change. Hb Delfzicht (<a href="/entry/141800#0208">141800.0208</a>) has the same mutation in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144061" 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>.0049 HEMOGLOBIN NORTON</strong>
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HBA2, HIS72ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864855;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=rs281864855" 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=rs281864855" 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">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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016958</a>
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<p>In a 7-month-old Caucasian child who was apparently well and hematologically normal, <a href="#61" class="mim-tip-reference" title="Hoyer, J. D., McCormick, D. J., Snow, K., Kwon, J. H., Booth, D., Duarte, M., Grayson, G., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha-9(A7)asn-to-lys (alpha2)], Hb Norton [alpha-72(EF1)his-to-asp (alpha2)], Hb Lombard [alpha-103(G10)his-to-tyr (alpha2)], and Hb San Antonio [alpha-113(GH2)leu-to-arg (alpha2)].</strong> Hemoglobin 26: 175-179, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144061</a>] [<a href="https://doi.org/10.1081/hem-120005456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144061">Hoyer et al. (2002)</a> found a his72-to-asp mutation in the alpha-2 chain. Three other alpha-chain variants had been reported at this site with no apparent abnormality: Hb Gouda (<a href="/entry/141800#0198">141800.0198</a>), Hb Fuchu-I (<a href="/entry/141800#0196">141800.0196</a>), and Hb Daneshgah-Tehran (<a href="/entry/141800#0026">141800.0026</a>). <a href="#61" class="mim-tip-reference" title="Hoyer, J. D., McCormick, D. J., Snow, K., Kwon, J. H., Booth, D., Duarte, M., Grayson, G., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha-9(A7)asn-to-lys (alpha2)], Hb Norton [alpha-72(EF1)his-to-asp (alpha2)], Hb Lombard [alpha-103(G10)his-to-tyr (alpha2)], and Hb San Antonio [alpha-113(GH2)leu-to-arg (alpha2)].</strong> Hemoglobin 26: 175-179, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144061</a>] [<a href="https://doi.org/10.1081/hem-120005456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144061">Hoyer et al. (2002)</a> stated that 4 previously reported beta chain variants with substitution of his77 in the beta-globin chain likewise appeared to be without hematologic effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144061" 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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<strong>.0050 HEMOGLOBIN LOMBARD</strong>
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HBA2, HIS103TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63750073 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750073;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=rs63750073" 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=rs63750073" 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=RCV000016959 OR RCV004767011" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016959, RCV004767011" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016959...</a>
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<p>In a 34-year-old male of Italian (Calabrian) ancestry who was clinically well and without hematologic abnormality, <a href="#61" class="mim-tip-reference" title="Hoyer, J. D., McCormick, D. J., Snow, K., Kwon, J. H., Booth, D., Duarte, M., Grayson, G., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha-9(A7)asn-to-lys (alpha2)], Hb Norton [alpha-72(EF1)his-to-asp (alpha2)], Hb Lombard [alpha-103(G10)his-to-tyr (alpha2)], and Hb San Antonio [alpha-113(GH2)leu-to-arg (alpha2)].</strong> Hemoglobin 26: 175-179, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144061</a>] [<a href="https://doi.org/10.1081/hem-120005456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144061">Hoyer et al. (2002)</a> described a CAC-to-TAC transition in codon 103 of the HBA2 gene, resulting in a his103-to-tyr substitution. The same mutation had been reported in the HBA1 gene as Hb Charolles (<a href="/entry/141800#0203">141800.0203</a>) in a person of Sardinian origin, who also had microcytosis that may have been due to mutation of the 3-prime polyadenylation site of the HBA2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144061" 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>.0051 HEMOGLOBIN SAN ANTONIO</strong>
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HBA2, LEU113ARG
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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> rs281860618 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281860618;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/rs281860618?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=rs281860618" 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=rs281860618" 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> 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=RCV000016960" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016960" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016960</a>
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<p>In a 1-year-old Caucasian male who was asymptomatic and hematologically normal, <a href="#61" class="mim-tip-reference" title="Hoyer, J. D., McCormick, D. J., Snow, K., Kwon, J. H., Booth, D., Duarte, M., Grayson, G., Kubik, K. S., Holmes, M. W., Fairbanks, V. F. <strong>Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha-9(A7)asn-to-lys (alpha2)], Hb Norton [alpha-72(EF1)his-to-asp (alpha2)], Hb Lombard [alpha-103(G10)his-to-tyr (alpha2)], and Hb San Antonio [alpha-113(GH2)leu-to-arg (alpha2)].</strong> Hemoglobin 26: 175-179, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144061</a>] [<a href="https://doi.org/10.1081/hem-120005456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12144061">Hoyer et al. (2002)</a> found a CTC-to-CGC transversion in codon 113 of the HBA2 gene resulting in a leu113-to-arg (L113R) change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144061" 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>.0052 HEMOGLOBIN RAMPA</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">rs281864881 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864881;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=rs281864881" 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=rs281864881" 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">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=RCV000016961" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016961" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016961</a>
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<p>Hb Rampa, a pro95-to-ser (P95S) change in the HBA2 gene, was first described in a few members of the Koya Dora tribe of Andhra Pradesh, India (<a href="#34" class="mim-tip-reference" title="De Jong, W. W. W., Bernini, L. F., Khan, P. M. <strong>Haemoglobin Rampa: alpha-95 pro-to-ser (BBA 35815).</strong> Biochim. Biophys. Acta 236: 197-200, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5577460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5577460</a>] [<a href="https://doi.org/10.1016/0005-2795(71)90165-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5577460">De Jong et al., 1971</a>). Additional cases were reported in a person of north European origin (<a href="#157" class="mim-tip-reference" title="Smith, L. L., Plese, C. F., Barton, B. P., Charache, S., Wilson, J. B., Huisman, T. H. <strong>Subunit dissociation of the abnormal hemoglobins G Georgia (alpha-2 95leu(G2) beta-2) and Rampa (alpha-2 95ser(G2) beta-2).</strong> J. Biol. Chem. 247: 1433-1439, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5012316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5012316</a>]" pmid="5012316">Smith et al., 1972</a>) and a French-Canadian family (<a href="#65" class="mim-tip-reference" title="Huisman, T. H. J., Gravely, M. E., Henson, J., Felice, A., Wilson, J. B., Abraham, E. C., Vella, F., Little, M. W. <strong>Variability in the interaction of beta-thalassemia with the alpha-chain variants Hb G-Philadelphia and Hb Rampa.</strong> J. Lab. Clin. Med. 92: 311-320, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/681817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">681817</a>]" pmid="681817">Huisman et al., 1978</a>). <a href="#62" class="mim-tip-reference" title="Hoyer, J. D., Rachut, E., Kubik, K. S., Jones, R. T., Honig, G. R., Vida, L. N., Fairbanks, V. F. <strong>Hb Rampa (alpha-95(G2)pro-to-ser(alpha-2)) in a family of European ancestry: DNA analysis confirms the CCG-to-TCG mutation at codon 95 of the alpha-2-globin gene; clinical and laboratory features.</strong> Hemoglobin 26: 397-403, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12484636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12484636</a>] [<a href="https://doi.org/10.1081/hem-120016379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12484636">Hoyer et al. (2002)</a> described Hb Rampa in a 53-year-old asymptomatic male of German ancestry living in the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5577460+681817+5012316+12484636" 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>.0053 HEMOGLOBIN MANAWATU</strong>
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HBA2, PRO37LEU
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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> rs281864826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864826;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/rs281864826?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=rs281864826" 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=rs281864826" 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">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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016962" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016962" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016962</a>
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<p><a href="#13" class="mim-tip-reference" title="Brennan, S. O., Sheen, C., Johnson, S. <strong>Hb Manawatu (alpha-37(C2)pro-to-leu): a new mildly unstable mutation at an invariant proline residue.</strong> Hemoglobin 26: 389-392, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12484634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12484634</a>] [<a href="https://doi.org/10.1081/hem-120016376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12484634">Brennan et al. (2002)</a> described Hb Manawatu, a pro37-to-leu (P37L) variant of the HBA2 gene, in a 28-year-old female of British descent living in New Zealand who was heterozygous for a CCC-to-CTC transition. The authors stated that the only other recorded mutation at position alpha-37(C2) was Hb Bourmedes, a pro37-to-arg (P37R; <a href="/entry/141800#0012">141800.0012</a>) change in the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12484634" 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>.0054 HEMOGLOBIN G (HONOLULU)</strong>
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HEMOGLOBIN G (CHINESE)
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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> rs111033605 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033605;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/rs111033605?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=rs111033605" 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=rs111033605" 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> 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=RCV000016963 OR RCV000016964 OR RCV000016965 OR RCV000016966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016963, RCV000016964, RCV000016965, RCV000016966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016963...</a>
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<p>See <a href="#145" class="mim-tip-reference" title="Schneider, R. G., Jim, R. T. S. <strong>Haemoglobin: a new hemoglobin variant (the 'Honolulu type') in a Chinese.</strong> Nature 190: 454-455, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13748254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13748254</a>] [<a href="https://doi.org/10.1038/190454a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13748254">Schneider and Jim (1961)</a>, <a href="#86" 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>, <a href="#161" class="mim-tip-reference" title="Swenson, R. T., Hill, R. L., Lehmann, H., Jim, R. T. S. <strong>A chemical abnormality in hemoglobin G from Chinese individuals.</strong> J. Biol. Chem. 237: 1517-1520, 1962."None>Swenson et al. (1962)</a>, and <a href="#90" 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>. The original Hb G (Chinese) variant was thought to have a beta-chain substitution (<a href="#45" 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>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=508945+13703277+13748254" 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="#25" class="mim-tip-reference" title="Chang, J.-G., Shih, M.-C., Liu, S.-C., Chen, C.-M., Chan, W.-L., Peng, C.-T. <strong>Hb G-Chinese: A G-to-C substitution at codon 30 of the alpha-2-globin gene creates a PstI cutting site.</strong> Hemoglobin 26: 95-97, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11939521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11939521</a>] [<a href="https://doi.org/10.1081/hem-120002948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11939521">Chang et al. (2002)</a> observed this variant in a Taiwanese family and found that it was caused by a G-to-C substitution at the first base of codon 30 (GAG-to-CAG) of the HBA2 gene, resulting in the substitution of a glutamic acid residue by glutamine (E30Q). The mutation created a PstI restriction site and abolished an authentic BstNI site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11939521" 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="#151" class="mim-tip-reference" title="Shih, M.-C., Peng, C.-T., Chang, J.-G. <strong>Association of Hb G-Chinese [alpha-30(B11)glu-to-gln] with alpha-thalassemia-1 of the Thai type in a Taiwanese family.</strong> Hemoglobin 27: 41-44, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12603093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12603093</a>] [<a href="https://doi.org/10.1081/hem-120018435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12603093">Shih et al. (2003)</a> identified Hb G (Chinese) with alpha-thalassemia-1 of the Thai type in a Taiwanese family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12603093" 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">rs111033606 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033606;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=rs111033606" 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=rs111033606" 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=RCV000016967" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016967" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016967</a>
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<p><a href="#100" 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> described this hemoglobin variant in a family of Sicilian origin living in Prato (near Florence in northern Italy). <a href="#35" class="mim-tip-reference" title="De Marco, E. V., Crescibene, L., Pasqua, A., Brancati, C., Bria, M., Qualtieri, A. <strong>Hb Prato [alpha31 (B12) arg-to-ser] in a Calabrian family.</strong> Hemoglobin 16: 275-279, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1517104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1517104</a>] [<a href="https://doi.org/10.3109/03630269208998868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1517104">De Marco et al. (1992)</a> found Hb Prato in a Calabrian family. The replacement of the arginine residue by serine occurs at position 31 (arg31 to ser; R31S) of the alpha-2-globin chain. <a href="#152" class="mim-tip-reference" title="Shih, M.-C., Peng, C.-T., Chang, J.-Y., Liu, S.-C., Kuo, P.-L., Chang, J.-G. <strong>Hb Prato [alpha-31(B12)arg-to-ser (alpha-2)] and alpha-thalassemia in a Taiwanese.</strong> Hemoglobin 27: 45-47, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12603094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12603094</a>] [<a href="https://doi.org/10.1081/hem-120018436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12603094">Shih et al. (2003)</a> observed this variant in a Taiwanese individual who was a compound heterozygote for Hb Prato and alpha-thalassemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12603094+486536+1517104" 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 ALPHA-THALASSEMIA, DUTCH TYPE</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> rs41457746 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41457746;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/rs41457746?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=rs41457746" 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=rs41457746" 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=RCV000016968 OR RCV001572897 OR RCV002482879" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016968, RCV001572897, RCV002482879" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016968...</a>
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<p><a href="#55" class="mim-tip-reference" title="Harteveld, C. L., Heister, A. J., Giordano, P. C., Batelaan, D., van Delft, P., Haak, H. L., Wijermans, P. W., Losekoot, M., Bernini, L. F. <strong>An IVS1-116(A-to-G) acceptor splice site mutation in the alpha-2-globin gene causing alpha(+)-thalassemia in two Dutch families.</strong> Brit. J. Haemat. 95: 461-466, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943885</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1996.d01-1926.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8943885">Harteveld et al. (1996)</a> described an IVS1-116A-G acceptor splice site mutation in the HBA2 gene, causing a very mild alpha(+)-thalassemia phenotype, in 2 Dutch families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8943885" 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="#56" class="mim-tip-reference" title="Harteveld, C. L., Van Lom, K., Gomez Garcia, E. B., van Delft, P., Giordano, P. C. <strong>The Dutch IVS-I-116 (A-to-G)(alpha-2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha(3.7) deletion defect.</strong> Hemoglobin 27: 49-51, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12603095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12603095</a>] [<a href="https://doi.org/10.1081/hem-120018437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12603095">Harteveld et al. (2003)</a> reported a third independent case of this alpha-thalassemia point mutation in a healthy 23-year-old Dutch woman; this was the first case defining the phenotype in combination with a frequent alpha(+)-thalassemia deletion defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12603095" 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>.0057 ALPHA-THALASSEMIA, ZF TYPE</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016969" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016969" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016969</a>
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<p><a href="#8" class="mim-tip-reference" title="Barbour, V. M., Tufarelli, C., Sharpe, J. A., Smith, Z. E., Ayyub, H., Heinlein, C. A., Sloane-Stanley, J., Indrak, K., Wood, W. G., Higgs, D. R. <strong>Alpha-thalassemia resulting from a negative chromosomal position effect.</strong> Blood 96: 800-807, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910890</a>]" pmid="10910890">Barbour et al. (2000)</a> reported an individual (called ZF) with alpha-thalassemia due to a unique deletion (called alpha(-)-ZF) that removed the HBA1 gene (<a href="/entry/141800">141800</a>) and the HBQ1 gene (<a href="/entry/142240">142240</a>) and juxtaposed a region that normally lies approximately 18 kb downstream of the alpha-globin cluster to a site next to the structurally normal HBA2 gene. The alpha(-)-ZF deletion did not remove any positive cis-acting sequences, but expression of the structurally intact alpha-globin gene was stably silenced and, during development, its CpG island became densely methylated and insensitive to endonucleases over a region of approximately 2 kb. <a href="#167" class="mim-tip-reference" title="Tufarelli, C., Stanley, J. A. S., Garrick, D., Sharpe, J. A., Ayyub, H., Wood, W. G., Higgs, D. R. <strong>Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease.</strong> Nature Genet. 34: 157-165, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12730694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12730694</a>] [<a href="https://doi.org/10.1038/ng1157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12730694">Tufarelli et al. (2003)</a> showed that the deletion had truncated the widely expressed gene LUC7L (<a href="/entry/607782">607782</a>), which is transcribed from the opposite DNA strand. They showed that in the affected individual, in a transgenic model, and in differentiating embryonic stem cells, transcription of antisense RNA mediated silencing and methylation of the associated CpG island. This was identified as a novel mechanism underlying human genetic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12730694+10910890" 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 a review of epimutation mechanisms in metabolic disorders including ZF-type alpha-thalassemia, <a href="#48" class="mim-tip-reference" title="Gueant, J. L., Siblini, Y., Chery, C., Schmitt, G., Gueant-Rodriguez, R. M., Coelho, D., Watkins, D., Rosenblatt, D. S., Oussalah, A. <strong>Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.</strong> Hum. Genet. 141: 1309-1325, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35190856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35190856</a>] [<a href="https://doi.org/10.1007/s00439-021-02414-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35190856">Gueant et al. (2022)</a> discussed that, in a mouse stem cell model, promotor methylation was triggered by antisense LUC7L transcription, which occurred during cell differentiation (as opposed to the epimutation being present in germ cells). Thus, the epimutation was not considered to be constitutional. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35190856" 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">rs41430445 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41430445;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=rs41430445" 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=rs41430445" 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=RCV000016970" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016970" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016970</a>
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<p><a href="#133" class="mim-tip-reference" title="Prehu, C., Mazurier, E., Riou, J., Kister, J., Prome, D., Richelme-David, S., Al Jassem, L., Angellier, E., Wajcman, H. <strong>A new unstable alpha-2-globin gene variant: Hb Chartres (alpha-33(B14)phe-to-ser).</strong> Hemoglobin 27: 111-115, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779273</a>] [<a href="https://doi.org/10.1081/hem-120021544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12779273">Prehu et al. (2003)</a> found a new phe33-to-ser (F33S) variant (designated Hb Chartres) in the HBA2 gene in a 31-year-old female of French origin presenting with mild microcytic hypochromic anemia. No family studies could be performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12779273" 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">rs41393644 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41393644;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=rs41393644" 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=rs41393644" 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=RCV000016971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016971</a>
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<p><a href="#53" class="mim-tip-reference" title="Harano, T., Suetsugu, Y., Harano, K., Than, A. M., Hong, Y.-F., Kuroda, A. <strong>A new hemoglobin variant, Hb Fukui (alpha-139(HC1)lys-to-asn (AAA-to-AAC) (alpha-2)).</strong> Hemoglobin 27: 117-121, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779274</a>] [<a href="https://doi.org/10.1081/hem-120021546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12779274">Harano et al. (2003)</a> found a lys139-to-asn (K139N) missense mutation, resulting from an AAA-to-AAC transversion, in a 52-year-old Japanese male. The change was in the same position 139 of the alpha-2 chain as hemoglobin Tokoname (K139T; <a href="/entry/141800#0149">141800.0149</a>) and Hb Hanamaki (K139E; <a href="#0023">141850.0023</a>), 2 variants found in Japanese, both of which show high oxygen affinity. <a href="#53" class="mim-tip-reference" title="Harano, T., Suetsugu, Y., Harano, K., Than, A. M., Hong, Y.-F., Kuroda, A. <strong>A new hemoglobin variant, Hb Fukui (alpha-139(HC1)lys-to-asn (AAA-to-AAC) (alpha-2)).</strong> Hemoglobin 27: 117-121, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779274</a>] [<a href="https://doi.org/10.1081/hem-120021546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12779274">Harano et al. (2003)</a> found that the nucleotide sequence of Hb Tokoname was ACA instead of AAA at codon 139 of the alpha-2-globin gene. In the case of Hb Hanamaki, 9 of 12 Japanese families found Honshu, the main island of Japan, were investigated, and the nucleotide sequence GAA instead of AAA was identified at codon 139 of the alpha-1-globin gene. However, in 1 family found in Kyushu, the western most main island, the mutation was identified in the alpha-2-globin gene. Thus, 3 different types of mutation at the same codon of the alpha-globin gene were discovered in the same population and, moreover, in the case of Hb Hanamaki, the nucleotide mutation was observed in both the alpha-1- and the alpha-2-globin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12779274" 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="0060" class="mim-anchor"></a>
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<strong>.0060 HEMOGLOBIN PART-DIEU</strong>
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HBA2, ALA65THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41510746 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41510746;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=rs41510746" 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=rs41510746" 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=RCV000016972" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016972" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016972</a>
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<p>In a 58-year-old man of French Caucasian origin living in Lyon, France, <a href="#81" class="mim-tip-reference" title="Lacan, P., Becchi, M., Zanella-Cleon, I., Aubry, M., Renaudier, P., Francina, A. <strong>Two new alpha chain variants: Hb Part-Dieu [alpha-65(E14)ala-to-thr (alpha-2)] and Hb Decines-Charpieu [alpha-69(E18)ala-to-thr (alpha-2)].</strong> Hemoglobin 28: 51-57, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008265</a>] [<a href="https://doi.org/10.1081/hem-120028887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15008265">Lacan et al. (2004)</a> identified an ala65-to-thr (A65T) mutation in the HBA2 gene. The patient suffered from type II diabetes (<a href="/entry/125853">125853</a>) and had hepatomegaly, splenomegaly, microlithiasis, hypercholesterolemia, and hypertriglyceridemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008265" 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="0061" class="mim-anchor"></a>
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<strong>.0061 HEMOGLOBIN DECINES-CHARPIEU</strong>
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HBA2, ALA69THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs63749997 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63749997;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=rs63749997" 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=rs63749997" 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=RCV000016973" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016973" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016973</a>
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<span class="mim-text-font">
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<p>In a 34-year-old man of French Caucasian origin living in the city of Decines-Charpieu in the south of France, <a href="#81" class="mim-tip-reference" title="Lacan, P., Becchi, M., Zanella-Cleon, I., Aubry, M., Renaudier, P., Francina, A. <strong>Two new alpha chain variants: Hb Part-Dieu [alpha-65(E14)ala-to-thr (alpha-2)] and Hb Decines-Charpieu [alpha-69(E18)ala-to-thr (alpha-2)].</strong> Hemoglobin 28: 51-57, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008265</a>] [<a href="https://doi.org/10.1081/hem-120028887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15008265">Lacan et al. (2004)</a> identified an ala69-to-thr (A69T) mutation in the HBA2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008265" 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="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 VAL DE MARNE</strong>
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</h4>
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<span class="mim-text-font">
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HEMOGLOBIN FOOTSCRAY
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HBA2, SER133ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs33960790 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs33960790;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=rs33960790" 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=rs33960790" 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> rs41514946 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41514946;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/rs41514946?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=rs41514946" 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=rs41514946" 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">rs55948437 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs55948437;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=rs55948437" 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=rs55948437" 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> rs56308100 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs56308100;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/rs56308100?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=rs56308100" 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=rs56308100" 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=RCV000016974" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016974" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016974</a>
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<p>Two different research teams, <a href="#170" class="mim-tip-reference" title="Wajcman, H., Kalmes, G., Groff, P., Prome, D., Riou, J., Galacteros, F. <strong>Hb Melusine [alpha114 (GH2) pro-to-ser]: a new neutral hemoglobin variant.</strong> Hemoglobin 17: 397-405, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294199</a>] [<a href="https://doi.org/10.3109/03630269308997494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8294199">Wajcman et al. (1993)</a> and <a href="#122" class="mim-tip-reference" title="Owen, M. C., Hendy, J. G. <strong>Hb Footscray or alpha133 (H16) ser-to-arg: a new hemoglobin variant.</strong> Hemoglobin 18: 19-27, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195006</a>] [<a href="https://doi.org/10.3109/03630269409014142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8195006">Owen and Hendy (1994)</a>, independently reported this hemoglobin variant, a ser133-to-arg (S133R) substitution. <a href="#170" class="mim-tip-reference" title="Wajcman, H., Kalmes, G., Groff, P., Prome, D., Riou, J., Galacteros, F. <strong>Hb Melusine [alpha114 (GH2) pro-to-ser]: a new neutral hemoglobin variant.</strong> Hemoglobin 17: 397-405, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294199</a>] [<a href="https://doi.org/10.3109/03630269308997494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8294199">Wajcman et al. (1993)</a> discovered the mutation (named Hb Val de Marne) in 2 French newborns who were first cousins. <a href="#122" class="mim-tip-reference" title="Owen, M. C., Hendy, J. G. <strong>Hb Footscray or alpha133 (H16) ser-to-arg: a new hemoglobin variant.</strong> Hemoglobin 18: 19-27, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195006</a>] [<a href="https://doi.org/10.3109/03630269409014142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8195006">Owen and Hendy (1994)</a> found the hemoglobin variant (named Hb Footscray) in a 27-year-old male of Polish-Hungarian descent. Position 133 is an internal residue located near the heme pocket and the C-terminal end of the alpha subunit. The mutation from serine to arginine at this position may facilitate the access of oxygen, or water, to the heme iron. When compared to adult hemoglobin (Hb A), the variant hemoglobin's oxygen affinity is increased 1.7-fold and the autooxidation rate is slightly increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8294199+8195006" 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="Ma, E. S.-K., Chan, A. Y.-Y., Lee, A. C.-W. <strong>Molecular characterization of Hb Val de Marne [alpha-133(H16)ser-to-arg; AGC-to-AGA; (alpha-2)] in a Chinese family.</strong> Hemoglobin 28: 213-216, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481888</a>] [<a href="https://doi.org/10.1081/hem-120040306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481888">Ma et al. (2004)</a> demonstrated that the S133R mutation, caused by an AGC-to-AGA transversion, is due to mutation in the HBA2 gene and not in the HBA1 gene. They found the variant in a 15-year-old Chinese girl and her father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481888" 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="0063" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0063 ALPHA-THALASSEMIA</strong>
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HBA2, GLU23TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864819;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=rs281864819" 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=rs281864819" 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">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=RCV000016976 OR RCV000985729" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016976, RCV000985729" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016976...</a>
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<p><a href="#153" class="mim-tip-reference" title="Siala, H., Fattoum, S., Messaoud, T., Ouali, F., Gerard, N., Krishnamoorthy, R. <strong>A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha-2-globin gene (GAG-to-TAG) in a Tunisian family.</strong> Hemoglobin 28: 249-254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481894</a>] [<a href="https://doi.org/10.1081/hem-120040258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481894">Siala et al. (2004)</a> described a 3-year-old Tunisian girl who had Hb Bart (gamma-4) at birth, later on presenting with moderate anemia, microcytosis, and hypochromia; she had a normal HBA2 level and no abnormal hemoglobin fraction. After excluding most of the common Mediterranean mutations, sequencing of the HBA2 gene identified a heterozygous change of codon 23 from GAG (glu) to TAG (ter) (glu23 to ter). The E23X mutation was also found in the mother in heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481894" 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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<strong>.0064 ALPHA-PLUS-THALASSEMIA</strong>
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HBA2, GLY22GLY
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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> rs63751457 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63751457;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/rs63751457?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=rs63751457" 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=rs63751457" 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=RCV000016977 OR RCV000759057 OR RCV001002048 OR RCV001275678" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016977, RCV000759057, RCV001002048, RCV001275678" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016977...</a>
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<p>In a 79-year-old woman of Surinamese-Hindustani origin with moderate microcytic hypochromic anemia, <a href="#57" class="mim-tip-reference" title="Harteveld, C. L., Wijermans, P. W., van Delft, P., Rasp, E., Haak, H. L., Giordano, P. C. <strong>An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha-2-globin gene.</strong> Hemoglobin 28: 255-259, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481895</a>] [<a href="https://doi.org/10.1081/hem-120040257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15481895">Harteveld et al. (2004)</a> identified a silent mutation at codon 22 of the HBA2 gene, GGC (gly) to GGT (gly) (gly22 to gly), resulting in a splice donor site consensus sequence between codons 22 and 23. The abnormally spliced mRNA led to a premature termination between codons 48 and 49. The presence of a downstream intron was thought to induce the intracellular degradation of the affected mRNA, through the pathway of nonsense-mediated decay (NMD), thus explaining the alpha(+)-thalassemia phenotype of the patient. The C-to-T transition was said to be the first reported mutation creating a splice donor site in 1 of the alpha-globin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481895" 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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<h4>
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<span class="mim-font">
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<strong>.0065 HEMOGLOBIN ZURICH ALBISRIEDEN</strong>
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ALPHA-PLUS-THALASSEMIA, INCLUDED
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HBA2, GLY59ARG
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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> rs41328049 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41328049;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/rs41328049?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=rs41328049" 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=rs41328049" 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=RCV000016978 OR RCV000016979 OR RCV002051788 OR RCV003736541" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016978, RCV000016979, RCV002051788, RCV003736541" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016978...</a>
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<span class="mim-text-font">
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<p>In a patient presenting with persistent hypochromic microcytosis and erythrocytosis, <a href="#38" class="mim-tip-reference" title="Dutly, F., Fehr, J., Goede, J. S., Morf, M., Troxler, H., Frischknecht, H. <strong>A new highly unstable alpha chain variant causing alpha+-thalassemia: Hb Zurich Albisrieden [alpha-59(E8)gly-to-arg(alpha-2)].</strong> Hemoglobin 28: 347-351, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15658192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15658192</a>] [<a href="https://doi.org/10.1081/hem-200037714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15658192">Dutly et al. (2004)</a> identified a G-to-C transversion in the HBA2 gene, resulting in a gly59-to-arg (G59R) substitution. The defect, designated Hb Zurich Albisrieden, was not detected at the protein level and led to alpha-plus-thalassemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15658192" 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="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 PASSY</strong>
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</h4>
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<span class="mim-text-font">
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HBA2, SER81PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs41484451 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41484451;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=rs41484451" 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=rs41484451" 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=RCV000016980" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016980" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016980</a>
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</span>
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<span class="mim-text-font">
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<p>In a 3-month-old Turkish boy investigated for anemia with hypochromia and microcytosis, <a href="#83" class="mim-tip-reference" title="Lacan, P., Moreau, M., Becchi, M., Zanella-Cleon, I., Aubry, M., Louis, J.-J., Couprie, N., Francina, A. <strong>Two new hemoglobin variants: Hb Brem-sur-Mer (beta-9(A6)ser-to-tyr) and Hb Passy (alpha-81(F2)ser-to-pro (alpha-2)).</strong> Hemoglobin 29: 69-75, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15768558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15768558</a>]" pmid="15768558">Lacan et al. (2005)</a> identified a TCC-to-CCC transition in codon 81 of the HBA2 gene, resulting in substitution of proline for serine (S81P). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15768558" 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="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 PLASENCIA</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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HBA2, LEU125ARG
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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> rs41397847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41397847;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/rs41397847?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=rs41397847" 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=rs41397847" 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=RCV000016981 OR RCV000985724 OR RCV001826473 OR RCV005007859" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016981, RCV000985724, RCV001826473, RCV005007859" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016981...</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>In a Spanish family residing in Plasencia with moderate microcytosis and hypochromia, <a href="#102" class="mim-tip-reference" title="Martin, G., Villegas, A., Gonzalez, F. A., Ropero, P., Hojas, R., Polo, M., Mateo, M., Salvador, M., Benavente, C. <strong>A novel mutation of the alpha-2-globin causing alpha(+)-thalassemia: Hb Plasencia (alpha-125(H8)leu-to-arg (alpha-2)).</strong> Hemoglobin 29: 113-117, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921163</a>]" pmid="15921163">Martin et al. (2005)</a> identified heterozygosity for a CTG-to-CGG transversion at codon 125 of the HBA2 gene, resulting in a leu125-to-arg substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15921163" 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="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 KUROSAKI</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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HBA2, LYS7GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs34817956 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34817956;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=rs34817956" 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=rs34817956" 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=RCV000016982 OR RCV003114197" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016982, RCV003114197" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016982...</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>In the course of assaying glycosylated hemoglobin in a diabetic patient, <a href="#52" class="mim-tip-reference" title="Harano, T., Harano, K., Imai, K., Murakami, T., Matsubara, H. <strong>Hb Kurosaki (alpha7 (A5) lys-to-glu): a new alpha chain variant found in a Japanese woman.</strong> Hemoglobin 19: 197-201, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558876</a>] [<a href="https://doi.org/10.3109/03630269509036940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558876">Harano et al. (1995)</a> found a new alpha-chain variant, which they named Hb Kurosaki after the city where the patient lived. Structural analysis demonstrated substitution of glutamic acid for lysine at position 7. From studies of a 30-year-old Thai male with normal hematologic profile at the steady state, <a href="#114" class="mim-tip-reference" title="Ngiwsara, L., Srisomsap, C., Winichagoon, P., Fucharoen, S., Sae-Ngow, B., Svasti, J. <strong>Hb Kurosaki (alpha-7(A5)lys-to-glu, AAG-to-GAG): an alpha-2-globin gene mutation found in Thailand.</strong> Hemoglobin 29: 155-159, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921168</a>]" pmid="15921168">Ngiwsara et al. (2005)</a> found the same hemoglobin variant and demonstrated that the mutation was localized to the HBA2 gene and was caused by heterozygosity for an AAG-to-GAG transition in codon 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7558876+15921168" 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>.0069 HEMOGLOBIN H DISEASE, NONDELETIONAL</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">rs63750678 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750678;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=rs63750678" 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=rs63750678" 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=RCV000016983 OR RCV000985719 OR RCV001831577 OR RCV005007860" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016983, RCV000985719, RCV001831577, RCV005007860" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016983...</a>
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<p><a href="#169" class="mim-tip-reference" title="Viprakasit, V., Chinchang, W., Glomglao, W., Tanphaichitr, V. S. <strong>A rare association of alpha(O)-thalassemia (--SEA) and an initiation codon mutation (ATG-to-A-G) of the alpha-2 gene causes Hb H disease in Thailand.</strong> Hemoglobin 29: 235-240, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116675</a>] [<a href="https://doi.org/10.1081/hem-200066339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116675">Viprakasit et al. (2005)</a> stated that in Thailand at least 7,000 new cases of Hb H disease (<a href="/entry/613978">613978</a>) are expected each year, because nearly 25% of the population is heterozygous for either deletional or nondeletional alpha-thalassemia determinants. The clinical phenotypes of affected individuals with Hb H disease are highly variable, ranging from stillbirths in Hb Bart hydrops fetalis to very mild clinical symptoms. <a href="#169" class="mim-tip-reference" title="Viprakasit, V., Chinchang, W., Glomglao, W., Tanphaichitr, V. S. <strong>A rare association of alpha(O)-thalassemia (--SEA) and an initiation codon mutation (ATG-to-A-G) of the alpha-2 gene causes Hb H disease in Thailand.</strong> Hemoglobin 29: 235-240, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116675</a>] [<a href="https://doi.org/10.1081/hem-200066339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116675">Viprakasit et al. (2005)</a> described a rare initiation codon mutation of the HBA2 gene, a 1-bp deletion of thymine at the second nucleotide of the ATG initiation codon, in compound heterozygous state with alpha-0-thalassemia. Other reported changes in the initiation codon of HBA2 are met1 to thr (<a href="#0020">141850.0020</a>) and met1 to val (<a href="#0022">141850.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116675" 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 mutation was described for the first time by <a href="#172" class="mim-tip-reference" title="Waye, J. S., Eng, B., Patterson, M., Chui, D. H. K., Nisbet-Brown, E., Olivieri, N. F. <strong>Novel mutation of the alpha-2-globin gene initiation codon (ATG--A-G) in a Vietnamese girl with Hb H disease.</strong> Hemoglobin 21: 469-472, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9322079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9322079</a>] [<a href="https://doi.org/10.3109/03630269708993130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9322079">Waye et al. (1997)</a> in an 8-year-old Canadian girl of Vietnamese descent. Pallor had been evident since birth, and hypochromic microcytic anemia was first documented at age 20 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9322079" 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>.0070 HEMOGLOBIN AL-HAMMADI RIYADH</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">rs281864859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864859;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=rs281864859" 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=rs281864859" 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">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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016984</a>
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<p>During a routine hemoglobin analysis for anemia in a 16-month-old boy who lived in Riyadh, Saudi Arabia, <a href="#19" class="mim-tip-reference" title="Burnichon, N., Lacan, P., Becchi, M., Zanella-Cleon, I., Aubry, M., Mowafy, M., Couprie, N., Francina, A. <strong>A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha-75(EF4) asp-to-val (alpha-2)].</strong> Hemoglobin 30: 155-164, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16798639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16798639</a>] [<a href="https://doi.org/10.1080/03630260600642096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16798639">Burnichon et al. (2006)</a> identified heterozygosity for an A-T transversion in exon 2 of the HBA2 gene, resulting in an asp75-to-val (D75V) substitution. The child had no hepatomegaly or splenomegaly. This was the sixth hemoglobin variant described at position 75 of the alpha-globin chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16798639" 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">rs587776828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776828;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=rs587776828" 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=rs587776828" 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=RCV000016985 OR RCV001811173 OR RCV001826474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016985, RCV001811173, RCV001826474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016985...</a>
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<p><a href="#43" 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> studied a newborn male of Hmong descent who had an elevated level of Hb Bart (more than 25%) indicative of Hb H disease. Deletion-specific PCR demonstrated that he was heterozygous for the Southeast Asian alpha-0-thal deletion. PCR amplification and direct nucleotide sequence analysis of the intact alpha-globin gene cluster revealed a 1-bp deletion of adenine from the translation initiation codon (ATG) of the HBA2 gene. <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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281864560 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864560;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=rs281864560" 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=rs281864560" 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=RCV000506938 OR RCV002275044" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000506938, RCV002275044" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000506938...</a>
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<p>In a patient with hemoglobin H hydrops fetalis (see <a href="/entry/236750">236750</a>), <a href="#23" class="mim-tip-reference" title="Chan, V., Chan, V. W.-Y., Tang, M., Lau, K., Todd, D., Chan, T. K. <strong>Molecular defects in Hb H hydrops fetalis.</strong> Brit. J. Haemat. 96: 224-228, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029003</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1997.d01-2017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029003">Chan et al. (1997)</a> detected a deletion of codon 30 (deltaGAG, glu) in the hemoglobin alpha-2 gene on one chromosome The other chromosome carried a large deletion that removed both alpha-globin genes and the zeta-globin (<a href="/entry/142310">142310</a>) gene. The mutant protein was apparently highly unstable since there was no detectable radioactive or protein peak upon in vitro globin chain synthesis. HbH was 2.5%, Hb Bart 31%, HbF 28%, and HbA 38.5%. In a review of the literature, <a href="#96" class="mim-tip-reference" title="Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., Waye, J. S., Finklestein, J. Z., Chui, D. H. K. <strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong> Brit. J. Haemat. 115: 72-78, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11722414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11722414</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03080.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11722414">Lorey et al. (2001)</a> noted that this patient died minutes after birth at 39 weeks' gestation, with ascites, hepatomegaly, and placentomegaly present. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9029003+11722414" 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>.0073 HEMOGLOBIN H HYDROPS FETALIS SYNDROME</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">rs281864846 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281864846;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=rs281864846" 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=rs281864846" 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=RCV000507118 OR RCV001376060 OR RCV001678588 OR RCV003323574" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000507118, RCV001376060, RCV001678588, RCV003323574" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000507118...</a>
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<p>In a patient with hemoglobin H hydrops fetalis (see <a href="/entry/236750">236750</a>), <a href="#23" class="mim-tip-reference" title="Chan, V., Chan, V. W.-Y., Tang, M., Lau, K., Todd, D., Chan, T. K. <strong>Molecular defects in Hb H hydrops fetalis.</strong> Brit. J. Haemat. 96: 224-228, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029003</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1997.d01-2017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029003">Chan et al. (1997)</a> detected a gly59-to-asp (G59D) substitution on one allele of the HBA2 gene, resulting from a G-to-A transition. Both alpha-globin genes on the other chromosome were removed by the Southeast Asian deletion (<a href="#96" class="mim-tip-reference" title="Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., Waye, J. S., Finklestein, J. Z., Chui, D. H. K. <strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong> Brit. J. Haemat. 115: 72-78, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11722414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11722414</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03080.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11722414">Lorey et al., 2001</a>). Fetal blood sampling at 28 weeks' gestation revealed Hb Bart of 39%, HbF 39%, and HbA 9%. An intrauterine transfusion was given at 29 weeks, and the patient was delivered by cesarean section at 34 weeks. The baby survived a turbulent neonatal period and was discharged at 3 months of age. He required monthly transfusions and at age 2 years had passed normal developmental milestones. <a href="#23" class="mim-tip-reference" title="Chan, V., Chan, V. W.-Y., Tang, M., Lau, K., Todd, D., Chan, T. K. <strong>Molecular defects in Hb H hydrops fetalis.</strong> Brit. J. Haemat. 96: 224-228, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029003</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1997.d01-2017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029003">Chan et al. (1997)</a> noted that this same mutation had been reported in the HBA1 gene (Hb Adana; <a href="/entry/141800#0174">141800.0174</a>) and had been coinherited with an alpha-thalassemia-1 deletion on the other allele, resulting in hemoglobin H disease. <a href="#23" class="mim-tip-reference" title="Chan, V., Chan, V. W.-Y., Tang, M., Lau, K., Todd, D., Chan, T. K. <strong>Molecular defects in Hb H hydrops fetalis.</strong> Brit. J. Haemat. 96: 224-228, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029003</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1997.d01-2017.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029003">Chan et al. (1997)</a> suggested that the more severe phenotype in their patient had resulted from the missense mutation's occurrence in the HBA2 gene, which transcribes up to twice as much mRNA as the HBA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9029003+11722414" 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>.0074 HEMOGLOBIN H HYDROPS FETALIS SYNDROME</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">rs63750776 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63750776;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=rs63750776" 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=rs63750776" 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=RCV001284140 OR RCV001678591" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001284140, RCV001678591" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001284140...</a>
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<p>In a patient of Filipino ancestry with hemoglobin H hydrops fetalis syndrome (see <a href="/entry/236750">236750</a>), <a href="#96" class="mim-tip-reference" title="Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., Waye, J. S., Finklestein, J. Z., Chui, D. H. K. <strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong> Brit. J. Haemat. 115: 72-78, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11722414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11722414</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03080.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11722414">Lorey et al. (2001)</a> detected a ser35-to-pro (S35P) substitution in the paternal allele of the HBA2 gene that had resulted from a T-to-C transition. The maternal chromosome carried the Filipino deletion removing the alpha-1 (<a href="/entry/141800">141800</a>), alpha-2, and zeta-globin (<a href="/entry/142310">142310</a>) genes. Clinical manifestations at birth by cesarean section at 34 weeks included pericardial effusion, fetal distress, jaundice, hepatosplenomegaly, ambiguous genitalia with fourth-degree hypospadias, and bilateral inguinal testes. He required 6 transfusions in the first 4 months of life; thereafter, hemoglobin levels stabilized. At 13 months of age developmental milestones were consistent with an estimated chronologic age of 10 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11722414" 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>.0075 HEMOGLOBIN DALLAS</strong>
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HBA2, ASN97LYS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001801079" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001801079" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001801079</a>
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<p>Hemoglobin Dallas was first described by <a href="#39" class="mim-tip-reference" title="Dysert, P. A., II, Head, C. G., Shih, T. B., Jones, R. T., Schneider, R. G. <strong>Hb Dallas, alpha-2 97(G4)asn-lys beta-2: a new abnormal hemoglobin with high oxygen affinity. (Abstract 139)</strong> Blood 60: 53a, 1982."None>Dysert et al. (1982)</a> as an asn97-to-lys (N97K) alpha-2 globin variant with high oxygen affinity. The variant was identified in a 22-year-old woman who, except for a mild erythrocytosis, was asymptomatic. Her mother and several other relatives were found to be affected.</p><p><a href="#87" class="mim-tip-reference" title="Lendaro, E., Ippoliti, R., Brancaccio, A., Bellelli, A., Vallone, B., Ivaldi, G., Sciarratta, G. V., Castello, C., Tomova, S., Brunori, M. <strong>Hemoglobin Dallas (alpha 97(G4)Asn-Lys): functional characterization of a high oxygen affinity natural mutant.</strong> Biochim. Biophys. Acta 1180: 15-20, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390940</a>] [<a href="https://doi.org/10.1016/0925-4439(92)90021-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1390940">Lendaro et al. (1992)</a> showed that Hb Dallas has increased oxygen affinity, diminished cooperativity, and reduced Bohr effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390940" 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="#Carver1995" class="mim-tip-reference" title="Carver, M. F. H., Kutlar, A. <strong>International Hemoglobin Information Center: variant list.</strong> Hemoglobin 19: 37-149, 1995.">Carver and Kutlar (1995)</a>; <a href="#Derry1984" class="mim-tip-reference" title="Derry, S., Wood, W. G., Pippard, M., Clegg, J. B., Weatherall, D. J., Wickramasinghe, S. N., Darley, J., Fucharoen, S., Wasi, P. <strong>Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring.</strong> J. Clin. Invest. 73: 1673-1682, 1984.">Derry et al. (1984)</a>; <a href="#Higgs1983" class="mim-tip-reference" title="Higgs, D. R., Goodbourn, S. E. Y., Lamb, J., Clegg, J. B., Weatherall, D. J., Proudfoot, N. J. <strong>Alpha-thalassaemia caused by a polyadenylation signal mutation.</strong> Nature 306: 398-400, 1983.">Higgs et al. (1983)</a>; <a href="#Lie-Injo1974" class="mim-tip-reference" title="Lie-Injo, L. E., Ganesan, J., Clegg, J. B., Weatherall, D. J. <strong>Homozygous state for Hb Constant Spring (slow moving Hb X components).</strong> Blood 43: 251-259, 1974.">Lie-Injo et al. (1974)</a>; <a href="#Liebhaber1985" 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.">Liebhaber and Cash (1985)</a>; <a href="#Milner1971" class="mim-tip-reference" title="Milner, P. F., Clegg, J. B., Weatherall, D. J. <strong>Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain.</strong> Lancet 297: 729-732, 1971. Note: Originally Volume I.">Milner et al.
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(1971)</a>; <a href="#Orkin1981" class="mim-tip-reference" title="Orkin, S. H., Goff, S. C., Hechtman, R. L. <strong>Mutation in an intervening sequence splice junction in man.</strong> Proc. Nat. Acad. Sci. 78: 5041-5045, 1981.">Orkin et al. (1981)</a>; <a href="#Patrinos2004" class="mim-tip-reference" title="Patrinos, G. P., Giardine, B., Riemer, C., Miller, W., Chui, D. H., Anagnou, N. P., Wajcman, H., Hardison, R. C. <strong>Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.</strong> Nucleic Acids Res. 32: D537-41, 2004.">Patrinos et al. (2004)</a>
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<strong>REFERENCES</strong>
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Aguinaga, M. P., Kutlar, F., Turner, E. A., Park, D.
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<strong>Hb Inkster (alpha-85(F6)asp-to-val) found in a Caucasian male with polycythemia.</strong>
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Hemoglobin 24: 333-339, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186265" 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/10.3109/03630260008993142" target="_blank">Full Text</a>]
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Ahern, E., Ahern, V., Holder, W., Palomino, E., Serjeant, G. R., Serjeant, B. E., Forbes, M., Brimhall, B., Jones, R. T.
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<strong>Haemoglobin Spanish Town: alpha 27 glu-to-val (B8).</strong>
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Biochim. Biophys. Acta 427: 530-535, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1268216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1268216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1268216" 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)90195-1" target="_blank">Full Text</a>]
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Atwater, J., Schwartz, I. R., Tocantins, L. M.
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<strong>A variety of human hemoglobin with four distinct electrophoretic components.</strong>
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Blood 15: 901-908, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13795009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13795009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13795009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ayala, S., Colomer, D., Aymerich, M., Pujades, A., Vives-Corrons, J. L.
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<strong>Nondeletional alpha-thalassemia: first description of alpha-Hph-alpha and alpha-Nco-alpha mutations in a Spanish population.</strong>
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Am. J. Hemat. 52: 144-149, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8756078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8756078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8756078" 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/10.1080/03630260600642096" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1081/hem-120005460" target="_blank">Full Text</a>]
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<strong>Hb Manitoba in a Taiwanese family: a C-to-A substitution at codon 102 of the alpha-2-globin gene.</strong>
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Hemoglobin 25: 437-439, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791879" 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-100107883" target="_blank">Full Text</a>]
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</p>
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<div class="">
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<p class="mim-text-font">
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<strong>Hb G-Chinese: A G-to-C substitution at codon 30 of the alpha-2-globin gene creates a PstI cutting site.</strong>
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Hemoglobin 26: 95-97, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11939521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11939521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11939521" 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-120002948" target="_blank">Full Text</a>]
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</p>
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<strong>Hemoglobin Hasharon (alpha-2 47 his(CD5)beta-2): a hemoglobin found in low concentration.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5780195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5780195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5780195" 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/JCI106041" target="_blank">Full Text</a>]
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<strong>The amino acid composition of hemoglobin. VI. Separation of the tryptic peptides of hemoglobin Knoxville no. 1 on Dowex-1 and Sephadex.</strong>
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[<a href="https://doi.org/10.1016/0304-4165(65)90268-0" target="_blank">Full Text</a>]
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<strong>Haemoglobin Icaria, a new chain-termination mutant which causes alpha-thalassaemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4422784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4422784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4422784" 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/10.1038/251245a0" target="_blank">Full Text</a>]
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<strong>Haemoglobin Constant Spring--a chain termination mutant?</strong>
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[<a href="https://doi.org/10.1038/234337a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.1998.01094.x" target="_blank">Full Text</a>]
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<strong>Hemoglobin Manitoba: alpha-102(G9)serine replaced by arginine.</strong>
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[<a href="https://doi.org/10.1139/o70-142" target="_blank">Full Text</a>]
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<strong>The chemical investigation of haemoglobins G Bristol and G Bristol-C.</strong>
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[<a href="https://doi.org/10.1016/0304-4165(64)90168-0" target="_blank">Full Text</a>]
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<strong>Haemoglobin Rampa: alpha-95 pro-to-ser (BBA 35815).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5577460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5577460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5577460" 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(71)90165-6" target="_blank">Full Text</a>]
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<strong>Hb Prato [alpha31 (B12) arg-to-ser] in a Calabrian family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1517104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1517104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1517104" 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/10.3109/03630269208998868" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111374" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.2.5147.282" target="_blank">Full Text</a>]
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<strong>A new highly unstable alpha chain variant causing alpha+-thalassemia: Hb Zurich Albisrieden [alpha-59(E8)gly-to-arg(alpha-2)].</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15658192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15658192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15658192" 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-200037714" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1990.tb02658.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(80)90429-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00282537" 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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[<a href="https://doi.org/10.1007/BF00295493" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000151139" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195005" 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/10.3109/03630269409014141" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/296864a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-021-02414-9" target="_blank">Full Text</a>]
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[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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558876" 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/10.3109/03630269509036940" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1081/hem-120021546" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2079430" 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/10.3109/03630269009005801" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8943885" 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.1365-2141.1996.d01-1926.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12603095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12603095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12603095" 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-120018437" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481895" 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-120040257" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8811313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8811313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8811313" 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/10.3109/03630269609027915" target="_blank">Full Text</a>]
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</p>
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<p class="mim-text-font">
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Hoyer, J. D., McCormick, D. J., Snow, K., Kwon, J. H., Booth, D., Duarte, M., Grayson, G., Kubik, K. S., Holmes, M. W., Fairbanks, V. F.
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<strong>Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha-9(A7)asn-to-lys (alpha2)], Hb Norton [alpha-72(EF1)his-to-asp (alpha2)], Hb Lombard [alpha-103(G10)his-to-tyr (alpha2)], and Hb San Antonio [alpha-113(GH2)leu-to-arg (alpha2)].</strong>
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Hemoglobin 26: 175-179, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12144061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12144061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12144061" 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-120005456" target="_blank">Full Text</a>]
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</p>
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<p class="mim-text-font">
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Hoyer, J. D., Rachut, E., Kubik, K. S., Jones, R. T., Honig, G. R., Vida, L. N., Fairbanks, V. F.
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<strong>Hb Rampa (alpha-95(G2)pro-to-ser(alpha-2)) in a family of European ancestry: DNA analysis confirms the CCG-to-TCG mutation at codon 95 of the alpha-2-globin gene; clinical and laboratory features.</strong>
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Hemoglobin 26: 397-403, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12484636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12484636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12484636" 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-120016379" target="_blank">Full Text</a>]
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</p>
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<strong>Molecular screening for haemoglobin Constant Spring.</strong>
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Lancet 333: 988-990, 1989. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2468982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2468982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2468982" 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(89)92630-5" target="_blank">Full Text</a>]
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<strong>The polypeptide chains of haemoglobin-A2 and haemoglobin-G2.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13716549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13716549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13716549" 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(61)80066-1" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/681817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">681817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=681817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Interaction of the beta chain variant hemoglobin Leslie and the alpha chain variant hemoglobin Montgomery in a black female.</strong>
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<strong>Personal Communication.</strong>
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Augusta, Ga. 1974.
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<strong>Direct demonstration of the Hb Suan-Dok mutation in the alpha-2-globin gene by restriction analysis with Sma I.</strong>
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Hemoglobin 14: 69-77, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2384313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2384313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2384313" 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/10.3109/03630269009002255" target="_blank">Full Text</a>]
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</p>
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<a id="Hunt1972" class="mim-anchor"></a>
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<strong>The origin of the genetic material in the abnormally long human hemoglobin alpha and beta chains.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4623704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4623704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4623704" 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(72)90548-7" target="_blank">Full Text</a>]
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</p>
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<a id="Jogessar1988" class="mim-anchor"></a>
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<div class="">
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Jogessar, V. B., Westermeyer, K., Webber, B. B., Wilson, J. B., Hu, H., Gonzalez-Redondo, J. M., Kutlar, A., Huisman, T. H. J.
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<strong>Hb Natal or alpha(minus tyr-arg), a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC-to-TAA (tyr terminating codon) mutation in codon alpha 140.</strong>
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Biochim. Biophys. Acta 951: 36-41, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3191134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3191134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3191134" 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/10.1016/0167-4781(88)90022-x" target="_blank">Full Text</a>]
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<a id="Johnson1981" class="mim-anchor"></a>
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<strong>Hemoglobin Boyle Heights: the first example of a deletion in the alpha chain. (Abstract)</strong>
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Blood 58 (suppl. 1): 54a, 1981.
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Johnson, C. S., Schroeder, W. A., Shelton, J. B., Shelton, J. R.
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<strong>The first example of a deletion in the human alpha chain: hemoglobin Boyle Heights or alpha(2)6(A4) asp-to-0.</strong>
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Hemoglobin 7: 125-140, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6671902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6671902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6671902" 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/10.3109/03630268309048642" target="_blank">Full Text</a>]
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<a id="73" class="mim-anchor"></a>
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<strong>Personal Communication.</strong>
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San Francisco, Calif. 1974.
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<strong>The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602995" 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.1365-2141.1996.d01-1487.x" target="_blank">Full Text</a>]
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<strong>Hb Anamosa or alpha(2)-111(G18)ala--val-beta(2) (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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</p>
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<a id="76" class="mim-anchor"></a>
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<a id="Khan2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Khan, S. N., Butt, F. I., Riazuddin, S., Galanello, R.
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<strong>Hb Sallanches [alpha-104(G11)cys-tyr]: a rare alpha-2-globin chain variant found in the homozygous state in three members of a Pakistani family.</strong>
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Hemoglobin 24: 31-35, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10722113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10722113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10722113" 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/10.3109/03630260009002271" target="_blank">Full Text</a>]
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<a id="77" class="mim-anchor"></a>
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<div class="">
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Kister, J., Prehu, C., Riou, J., Godart, C., Bardakdjian, J., Prome, D., Galacteros, F., Wajcman, H.
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<strong>Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)val-to-gly] and Hb Barbizon [beta144(HC1)lys-to-met].</strong>
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Hemoglobin 23: 21-32, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10081983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10081983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10081983" 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/10.3109/03630269908996145" target="_blank">Full Text</a>]
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<a id="78" 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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<strong>Hemoglobin Bibba or alpha(2)136 pro beta(2), an unstable alpha chain abnormal hemoglobin.</strong>
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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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<li>
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<a id="79" class="mim-anchor"></a>
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<a id="Kosasih1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kosasih, E. N., Cai, S.-P., Kan, Y. W., Lie-Injo, L. E.
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<strong>Hemoglobin Constant Spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta121--gln) in a Batak Indonesian family.</strong>
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Am. J. Hemat. 29: 22-26, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3177365" 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.2830290106" target="_blank">Full Text</a>]
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</p>
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<a id="80" class="mim-anchor"></a>
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<a id="Lacan2001" 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., Aubry, M., Couprie, N., Francina, A.
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<strong>Hb Gerland (alpha-55(E4)val-to-ala (alpha-2)): a new neutral alpha-chain variant involving the alpha-2 gene.</strong>
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Hemoglobin 25: 417-420, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791875" 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-100107879" target="_blank">Full Text</a>]
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</p>
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<a id="Lacan2004" 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., Becchi, M., Zanella-Cleon, I., Aubry, M., Renaudier, P., Francina, A.
|
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<strong>Two new alpha chain variants: Hb Part-Dieu [alpha-65(E14)ala-to-thr (alpha-2)] and Hb Decines-Charpieu [alpha-69(E18)ala-to-thr (alpha-2)].</strong>
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Hemoglobin 28: 51-57, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15008265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15008265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15008265" 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-120028887" target="_blank">Full Text</a>]
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</p>
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</div>
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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.
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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: <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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<div class="">
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<p class="mim-text-font">
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Lacan, P., Moreau, M., Becchi, M., Zanella-Cleon, I., Aubry, M., Louis, J.-J., Couprie, N., Francina, A.
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<strong>Two new hemoglobin variants: Hb Brem-sur-Mer (beta-9(A6)ser-to-tyr) and Hb Passy (alpha-81(F2)ser-to-pro (alpha-2)).</strong>
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Hemoglobin 29: 69-75, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15768558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15768558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15768558" 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="Laig1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Laig, M., Pape, M., Hundrieser, J., Flatz, G., Sanguansermsri, T., Das, B. M., Deka, R., Yongvanit, P., Mularlee, N.
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<strong>The distribution of the Hb Constant Spring gene in Southeast Asian populations.</strong>
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Hum. Genet. 84: 188-190, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2298455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2298455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2298455" 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/BF00208939" target="_blank">Full Text</a>]
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</p>
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<a id="Lehmann1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lehmann, H., Vella, F.
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<strong>Haemoglobin Hasharon.</strong>
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Humangenetik 25: 237-240, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4448454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4448454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4448454" 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/BF00281433" target="_blank">Full Text</a>]
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</p>
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<a id="86" class="mim-anchor"></a>
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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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<a id="Lendaro1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lendaro, E., Ippoliti, R., Brancaccio, A., Bellelli, A., Vallone, B., Ivaldi, G., Sciarratta, G. V., Castello, C., Tomova, S., Brunori, M.
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<strong>Hemoglobin Dallas (alpha 97(G4)Asn-Lys): functional characterization of a high oxygen affinity natural mutant.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390940" 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)90021-e" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="88" class="mim-anchor"></a>
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<a id="Liang1991" 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., Wen, X.-J., Lin, W.-X.
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<strong>Detection of the Hb Quong Sze mutation in a Chinese family by selective amplification of the alpha-2-globin gene and restriction map analysis with Msp I.</strong>
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Hemoglobin 15: 535-540, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1726096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1726096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1726096" 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/10.3109/03630269109027901" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="89" class="mim-anchor"></a>
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<a id="Liddell1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liddell, J., Brown, D., Beale, D., Lehmann, H., Huntsman, R. G.
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<strong>A new haemoglobin J(alpha)-Oxford, found during a survey of an English population.</strong>
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Nature 204: 269-270, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14212426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14212426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14212426" 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/10.1038/204269a0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="90" class="mim-anchor"></a>
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<a id="Lie-Injo1979" class="mim-anchor"></a>
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<div class="">
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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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<a id="Lie-Injo1974" class="mim-anchor"></a>
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Lie-Injo, L. E., Ganesan, J., Clegg, J. B., Weatherall, D. J.
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<strong>Homozygous state for Hb Constant Spring (slow moving Hb X components).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810076</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4810076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liebhaber, S. A., Cash, F. E., Ballas, S. K.
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[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>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3771577" 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="93" class="mim-anchor"></a>
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<a id="Liebhaber1985" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1172/JCI111698" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="Liebhaber1987" class="mim-anchor"></a>
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<div class="">
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Liebhaber, S. A., Coleman, M. B., Adams, J. G., III, Cash, F. E., Steinberg, M. H.
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<strong>Molecular basis for nondeletion alpha-thalassemia in American blacks alpha-2(116GAG-to-UAG).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3597771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3597771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3597771" 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/JCI113041" target="_blank">Full Text</a>]
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<a id="95" 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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[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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<a id="Lorey2001" class="mim-anchor"></a>
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<strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong>
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[<a href="https://doi.org/10.1046/j.1365-2141.2001.03080.x" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Ma, E. S.-K., Chan, A. Y.-Y., Lee, A. C.-W.
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<strong>Molecular characterization of Hb Val de Marne [alpha-133(H16)ser-to-arg; AGC-to-AGA; (alpha-2)] in a Chinese family.</strong>
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Hemoglobin 28: 213-216, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481888" 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-120040306" target="_blank">Full Text</a>]
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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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[<a href="https://doi.org/10.1007/BF00194226" target="_blank">Full Text</a>]
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<strong>Identification of Hb J-Sardegna (alpha50 (CE8) his-to-asp) by HPLC and its incidence in Northern Sardinia.</strong>
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Hemoglobin 13: 33-44, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2703364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2703364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2703364" 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/10.3109/03630268908998051" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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<strong>A new abnormal human hemoglobin: Hb Prato (alpha31 arg-to-ser).</strong>
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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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<strong>Eine neue Haemoglobin I-Variante: Hb I (Interlaken).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14204459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14204459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14204459" 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/10.1159/000209551" target="_blank">Full Text</a>]
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<strong>A novel mutation of the alpha-2-globin causing alpha(+)-thalassemia: Hb Plasencia (alpha-125(H8)leu-to-arg (alpha-2)).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15921163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Hb Dartmouth (alpha-66(E15)leu-to-pro (alpha-2)(CTG-to-CCG)): a novel alpha-2-globin gene mutation associated with severe neonatal anemia when inherited in trans without Southeast Asian alpha-thalassemia-1.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791870" 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-100107874" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7448866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7448866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7448866" 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(80)90347-5" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6317690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6317690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6317690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4101431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4101431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4101431" 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(71)91992-1" target="_blank">Full Text</a>]
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<strong>Alpha, beta and gamma hemoglobin polypeptide chains during the neonatal period with description of a fetal form of hemoglobin D alpha-St. Louis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14474345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14474345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14474345" 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 Tarrant: alpha 126 (H9) asp-to-asn. A new hemoglobin variant in the alpha-1beta-1 contact region showing high oxygen affinity and reduced cooperativity.</strong>
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[<a href="https://doi.org/10.1016/0005-2795(77)90019-8" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8555062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8555062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8555062" 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.1365-2141.1995.tb05355.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6199285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6199285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6199285" 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/BF00286523" target="_blank">Full Text</a>]
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<strong>First observation of Hb Montgomery [alpha-48(CD6)leu-to-arg] in Tunisia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3384700" 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/10.3109/03630268808996884" target="_blank">Full Text</a>]
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<strong>Hb Kurosaki (alpha-7(A5)lys-to-glu, AAG-to-GAG): an alpha-2-globin gene mutation found in Thailand.</strong>
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Hemoglobin 29: 155-159, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15921168" 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 class="">
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<p class="mim-text-font">
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Noguera, N. I., Gonzalez, F. A., Davoli, R. A., Milani, A. C., Villegas, A.
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<strong>A novel splice acceptor site mutation of the alpha-2-globin gene causing alpha-thalassemia.</strong>
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Hemoglobin 25: 311-315, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11570724" 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-100105224" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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Olivieri, N. F., Chang, L. S., Poon, A. O., Michelson, A. M., Orkin, S. H.
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<strong>An alpha-globin gene initiation codon mutation in a black family with Hb H disease.</strong>
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Blood 70: 729-732, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3620699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3620699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3620699" 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 class="">
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<p class="mim-text-font">
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Oppenheimer, S. J., Higgs, D. R., Weatherall, D. J., Barker, J., Spark, R. A.
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<strong>Alpha-thalassemia in Papua New Guinea.</strong>
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Lancet 323: 424-426, 1984. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6142152" 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)91754-9" target="_blank">Full Text</a>]
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Orisaka, M., Tajima, T., Harano, T., Harano, K., Kushida, Y., Imai, K.
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<strong>A new alpha chain variant, Hb Hanamaki or alpha(2)139(HC1)lys-to-glu-beta(2), found in a Japanese family.</strong>
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Hemoglobin 16: 67-71, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634363" 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/10.3109/03630269209005677" target="_blank">Full Text</a>]
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</p>
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<strong>Mutation in an intervening sequence splice junction in man.</strong>
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[<a href="https://doi.org/10.1073/pnas.78.8.5041" target="_blank">Full Text</a>]
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<strong>A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha-2-globin gene.</strong>
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Hum. Molec. Genet. 6: 881-885, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9175734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9175734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9175734" 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/hmg/6.6.881" target="_blank">Full Text</a>]
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<strong>Hb Sinai, a new alpha chain mutant (alpha his 47).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5713624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5713624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5713624" 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/BF00286809" target="_blank">Full Text</a>]
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<strong>Hb Footscray or alpha133 (H16) ser-to-arg: a new hemoglobin variant.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8195006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8195006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8195006" 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/10.3109/03630269409014142" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9895333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9895333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9895333" 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/14681476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14681476[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=14681476" 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/gkh006" target="_blank">Full Text</a>]
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</p>
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<a id="Perea1999" class="mim-anchor"></a>
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<div class="">
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Perea, F. J., Zamudio, G., Meillon, L. A., Ibarra, B.
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<strong>The Hb Tarrant (alpha-126(H9)asp-to-asn) mutation is localized in the alpha-2-globin gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10490145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10490145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10490145" 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/10.3109/03630269909005713" target="_blank">Full Text</a>]
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</p>
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<a id="Perry1991" class="mim-anchor"></a>
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Perry, M. C., Head, C., Fairbanks, V. F., Jones, R. T., Taylor, H., Proud, V.
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<strong>Hemoglobin Columbia Missouri or alpha(2)88 (F9) ala-to-val: a new high-oxygen-affinity hemoglobin that causes erythrocytosis.</strong>
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Mayo Clin. Proc. 66: 5-10, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1988759" 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/s0025-6196(12)61169-0" target="_blank">Full Text</a>]
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</p>
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<a id="Pich1978" class="mim-anchor"></a>
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<div class="">
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Pich, P., Saglio, G., Camaschella, C., David, O., Vasino, M. A. C., Ricco, G., Mazza, U.
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<strong>Interaction between Hb Hasharon and alpha-thalassemia: an approach to the problem of the number of human alpha loci.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/620088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">620088</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=620088" 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="Pirastu1984" class="mim-anchor"></a>
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<div class="">
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Pirastu, M., Saglio, G., Chang, J. C., Cao, A., Kan, Y. W.
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<strong>Initiation codon mutation as a cause of alpha-thalassemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6490612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6490612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6490612" 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="129" class="mim-anchor"></a>
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<a id="Plaseska1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plaseska, D., Gu, L.-H., Wilson, J. B., Codrington, J. F., Huisman, T. H. J., Dash, S.
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<strong>Hb Sun Prairie or alpha(2)130(H13)ala-to-pro; second observation in an Indian adult.</strong>
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Hemoglobin 14: 491-497, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2079431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2079431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2079431" 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/10.3109/03630269009005802" target="_blank">Full Text</a>]
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</p>
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<a id="130" class="mim-anchor"></a>
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<a id="Politis-Tsegos1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Politis-Tsegos, C., Lang, A., Stathopoulou, R., Lehmann, H.
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<strong>Is haemoglobin G(alpha) Philadelphia linked to alpha-thalassemia?</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1248825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1248825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1248825" 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/BF00270401" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="131" class="mim-anchor"></a>
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<a id="Prchal1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Prchal, J. T., Adler, B., Wilson, J. B., Baysal, E., Qin, W.-B., Molchanova, T. P., Pobedimskaya, D. D., Kazanetz, E. G., Huisman, T. H. J.
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<strong>Hb Bibba or alpha(2)136(H19)leu-to-pro-beta(2) in a Caucasian family from Alabama.</strong>
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Hemoglobin 19: 151-164, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558871" 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/10.3109/03630269509036935" target="_blank">Full Text</a>]
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<strong>Nb Nikaia (alpha-20(B1)his-to-asp): a new variant of the alpha-2 gene.</strong>
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Hemoglobin 24: 305-309, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186260" 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/10.3109/03630260008993137" target="_blank">Full Text</a>]
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<strong>A new unstable alpha-2-globin gene variant: Hb Chartres (alpha-33(B14)phe-to-ser).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12779273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12779273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12779273" 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-120021544" target="_blank">Full Text</a>]
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<strong>Hb Watts (alpha-74(EF3) or alpha-75(EF4)asp-to-0): A shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha-2-globin gene.</strong>
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Hemoglobin 21: 321-330, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9255611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9255611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9255611" 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/10.3109/03630269709000665" target="_blank">Full Text</a>]
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<strong>A second case of Hb Hanamaki [alpha-2-139(HC1)lys-to-glu] in an American family with erythrocytosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7928378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7928378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7928378" 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/10.3109/03630269409043622" target="_blank">Full Text</a>]
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<strong>Four haemoglobins in one individual: a study of the genetic interaction of Hb-G and Hb-C.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13739559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13739559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13739559" 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.2.5208.1257" target="_blank">Full Text</a>]
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<strong>Haemoglobin Inkster (alpha 85 aspartic acid to valine) coexisting with beta-thalassaemia in a Caucasian family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4212045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4212045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4212045" 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.1365-2141.1974.tb00489.x" target="_blank">Full Text</a>]
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<strong>Hb Suan-Dok [alpha-109(G16)leu-to-arg; CTG-to-CGC (alpha-2)] described in a patient of African ancestry.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15481883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15481883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15481883" 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-120040309" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1138551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1138551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1138551" 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/10.1016/0002-9343(75)90321-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/03630269208993120" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.77.11.6874" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/478977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">478977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=478977" 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/10.3109/03630267908998911" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2005.05451.x" 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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[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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<strong>A rare association of alpha(O)-thalassemia (--SEA) and an initiation codon mutation (ATG-to-A-G) of the alpha-2 gene causes Hb H disease in Thailand.</strong>
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Hemoglobin 29: 235-240, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116675" 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-200066339" target="_blank">Full Text</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., Kalmes, G., Groff, P., Prome, D., Riou, J., Galacteros, F.
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<strong>Hb Melusine [alpha114 (GH2) pro-to-ser]: a new neutral hemoglobin variant.</strong>
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Hemoglobin 17: 397-405, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8294199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8294199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8294199" 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/10.3109/03630269308997494" target="_blank">Full Text</a>]
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<a id="Waye2000" class="mim-anchor"></a>
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Waye, J. S., Eng, B., Chui, D. H. K., Powers, P. J., Lafferty, J. D.
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<strong>Second report of Hb Toulon (alpha-77(EF6)pro-to-his) in a Canadian family of Italian descent.</strong>
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Hemoglobin 24: 359-360, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186269" 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/10.3109/03630260008993146" target="_blank">Full Text</a>]
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<a id="Waye1997" 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., Chui, D. H. K., Nisbet-Brown, E., Olivieri, N. F.
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<strong>Novel mutation of the alpha-2-globin gene initiation codon (ATG--A-G) in a Vietnamese girl with Hb H disease.</strong>
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Hemoglobin 21: 469-472, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9322079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9322079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9322079" 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/10.3109/03630269708993130" target="_blank">Full Text</a>]
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<a id="173" class="mim-anchor"></a>
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<a id="Waye1994" 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., Chui, D. H. K., Olivieri, N. F.
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<strong>Identification of a novel termination codon mutation (TAA-to-TAT, term-to-tyr) in the alpha-2-globin gene of a Laotian girl with hemoglobin H disease. (Letter)</strong>
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Blood 83: 3418-3420, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8193381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8193381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8193381" 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="Weatherall1962" 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., Sigler, A. T., Baglioni, C.
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<strong>Four hemoglobins in each of three brothers: genetic and biochemical significance.</strong>
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Bull. Johns Hopkins Hosp. 111: 143-156, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13999302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13999302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13999302" 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="Weiss1990" class="mim-anchor"></a>
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Weiss, I., Cash, F. E., Coleman, M. B., Pressley, A., Adams, J. G., Sanguansermsri, T., Liebhaber, S. A., Steinberg, M. H.
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<strong>Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha-2 109leu-to-arg).</strong>
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Blood 76: 2630-2636, 1990. Note: Erratum: Blood 77: 1404 only, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2265255" 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="Wen1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wen, X.-J., Liang, S., Jin, Q., Lin, W.-X.
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<strong>The nondeletional types of Hb H disease in Guangxi.</strong>
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Hemoglobin 16: 45-50, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634361" 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/10.3109/03630269209005675" target="_blank">Full Text</a>]
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<a id="177" class="mim-anchor"></a>
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<a id="Wenning2000" class="mim-anchor"></a>
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Wenning, M. R. S. C., Silva, N. M., Jorge, S. B., Kimura, E. M., Costa, F. F., Torsoni, M. A., Ogo, S. H., Sonati, M. F.
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<strong>Hb Campinas (alpha-26(B7)ala-to-val): a novel, electrophoretically silent, variant.</strong>
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Hemoglobin 24: 143-148, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10870886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10870886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10870886" 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/10.3109/03630260009003434" target="_blank">Full Text</a>]
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<a id="178" class="mim-anchor"></a>
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<a id="Whitelaw1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whitelaw, E., Proudfoot, N.
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<strong>Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3-prime end processing in the human alpha-2 globin gene.</strong>
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EMBO J. 5: 2915-2922, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3024968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3024968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3024968" 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/j.1460-2075.1986.tb04587.x" target="_blank">Full Text</a>]
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<a id="Wilson1989" class="mim-anchor"></a>
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Wilson, J. B., Webber, B. B., Kutlar, A., Reese, A. L., McKie, V. C., Lutcher, C. L., Felice, A. E., Huisman, T. H. J.
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<strong>HB Evans or alpha-2 62 (E11) val-to-met: an unstable hemoglobin causing a mild hemolytic anemia.</strong>
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Hemoglobin 13: 557-566, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2606724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2606724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2606724" 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/10.3109/03630268908993106" target="_blank">Full Text</a>]
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<a id="Wilson1990" class="mim-anchor"></a>
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Wilson, J. B., Webber, B. B., Plaseska, D., de Alarcon, P. A., McMillan, S. K., Huisman, T. H. J.
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<strong>Hb Davenport or alpha-2 78(EF7) asn-to-his.</strong>
|
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Hemoglobin 14: 599-605, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2101836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2101836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2101836" 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/10.3109/03630269009046968" target="_blank">Full Text</a>]
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<a id="Yuregir1992" class="mim-anchor"></a>
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Yuregir, G. T., Aksoy, K., Curuk, M. A., Dikmen, N., Fei, Y.-J., Baysal, E., Huisman, T. H. J.
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<strong>Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.</strong>
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Brit. J. Haemat. 80: 527-532, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1581238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1581238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1581238" 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.tb04568.x" target="_blank">Full Text</a>]
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<a id="Zhao1990" class="mim-anchor"></a>
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<div class="">
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Zhao, W., Wilson, J. B., Huisman, T. H. J.
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<strong>Low quantities of Hb Boyle Heights or alpha-2 6 (A4) asp-to-del observed in three members of a Caucasian family.</strong>
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Hemoglobin 14: 637-640, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2101838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2101838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2101838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 class="mim-text-font">
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Anne M. Stumpf - updated : 7/25/2011<br>Victor A. McKusick - updated : 9/19/2006<br>Victor A. McKusick - updated : 3/29/2006<br>Victor A. McKusick - updated : 11/1/2005<br>Victor A. McKusick - updated : 10/11/2005<br>Victor A. McKusick - updated : 8/11/2005<br>Victor A. McKusick - updated : 6/30/2005<br>Victor A. McKusick - updated : 5/11/2005<br>Victor A. McKusick - updated : 3/3/2005<br>Victor A. McKusick - updated : 12/6/2004<br>Victor A. McKusick - updated : 12/3/2004<br>Victor A. McKusick - updated : 6/2/2004<br>Victor A. McKusick - updated : 9/2/2003<br>Victor A. McKusick - updated : 5/20/2003<br>Victor A. McKusick - updated : 5/13/2003<br>Victor A. McKusick - updated : 4/17/2003<br>Victor A. McKusick - updated : 3/5/2003<br>Victor A. McKusick - updated : 3/3/2003<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 9/16/2002<br>Victor A. McKusick - updated : 2/27/2002<br>Victor A. McKusick - updated : 11/6/2001<br>Victor A. McKusick - updated : 2/14/2001<br>Victor A. McKusick - updated : 9/15/2000<br>Victor A. McKusick - updated : 1/21/2000<br>Carol A. Bocchini - updated : 12/14/1999<br>Victor A. McKusick - updated : 12/8/1999<br>Victor A. McKusick - updated : 3/25/1999<br>Victor A. McKusick - updated : 2/2/1999<br>Victor A. McKusick - updated : 9/29/1997<br>Moyra Smith - updated : 4/6/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 09/15/2023
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carol : 09/05/2023<br>carol : 08/30/2023<br>carol : 08/17/2023<br>carol : 08/15/2023<br>carol : 11/03/2022<br>carol : 09/12/2022<br>carol : 08/05/2021<br>carol : 06/14/2018<br>carol : 05/22/2018<br>carol : 05/21/2018<br>carol : 10/13/2016<br>alopez : 05/21/2015<br>carol : 9/12/2014<br>alopez : 7/22/2014<br>terry : 3/28/2013<br>alopez : 12/19/2012<br>terry : 12/14/2012<br>alopez : 7/25/2011<br>alopez : 5/13/2011<br>terry : 10/12/2010<br>terry : 12/16/2009<br>wwang : 5/4/2009<br>terry : 2/3/2009<br>terry : 1/15/2009<br>terry : 1/14/2009<br>alopez : 11/19/2008<br>wwang : 10/3/2006<br>terry : 9/19/2006<br>terry : 3/29/2006<br>wwang : 3/1/2006<br>carol : 11/18/2005<br>alopez : 11/8/2005<br>terry : 11/1/2005<br>carol : 10/27/2005<br>carol : 10/21/2005<br>wwang : 10/21/2005<br>terry : 10/11/2005<br>carol : 10/3/2005<br>wwang : 8/18/2005<br>terry : 8/11/2005<br>carol : 7/1/2005<br>terry : 6/30/2005<br>wwang : 6/7/2005<br>wwang : 5/13/2005<br>terry : 5/11/2005<br>tkritzer : 3/11/2005<br>terry : 3/3/2005<br>tkritzer : 1/25/2005<br>terry : 12/6/2004<br>terry : 12/3/2004<br>tkritzer : 6/8/2004<br>terry : 6/2/2004<br>tkritzer : 1/5/2004<br>cwells : 11/10/2003<br>cwells : 9/3/2003<br>terry : 9/2/2003<br>terry : 7/30/2003<br>terry : 7/28/2003<br>alopez : 6/3/2003<br>alopez : 5/23/2003<br>terry : 5/20/2003<br>terry : 5/13/2003<br>tkritzer : 5/5/2003<br>tkritzer : 4/30/2003<br>terry : 4/17/2003<br>carol : 3/11/2003<br>tkritzer : 3/7/2003<br>terry : 3/5/2003<br>terry : 3/3/2003<br>tkritzer : 10/7/2002<br>tkritzer : 10/3/2002<br>tkritzer : 10/2/2002<br>carol : 9/16/2002<br>cwells : 3/22/2002<br>cwells : 3/20/2002<br>terry : 2/27/2002<br>alopez : 11/12/2001<br>terry : 11/6/2001<br>carol : 2/19/2001<br>mcapotos : 2/19/2001<br>mcapotos : 2/16/2001<br>terry : 2/14/2001<br>mcapotos : 10/12/2000<br>mcapotos : 10/10/2000<br>carol : 9/27/2000<br>mcapotos : 9/27/2000<br>terry : 9/15/2000<br>carol : 2/8/2000<br>mcapotos : 2/7/2000<br>terry : 1/21/2000<br>mcapotos : 12/15/1999<br>carol : 12/14/1999<br>carol : 12/8/1999<br>terry : 12/8/1999<br>mgross : 8/26/1999<br>carol : 8/20/1999<br>terry : 4/30/1999<br>mgross : 4/2/1999<br>mgross : 3/30/1999<br>mgross : 3/30/1999<br>terry : 3/25/1999<br>carol : 2/15/1999<br>terry : 2/2/1999<br>dkim : 7/2/1998<br>mark : 10/3/1997<br>mark : 10/3/1997<br>jenny : 10/1/1997<br>terry : 9/29/1997<br>alopez : 8/7/1997<br>alopez : 8/1/1997<br>alopez : 7/29/1997<br>jenny : 6/23/1997<br>terry : 6/19/1997<br>mark : 6/14/1997<br>mark : 1/10/1997<br>jenny : 1/7/1997<br>terry : 12/13/1996<br>terry : 12/10/1996<br>terry : 11/18/1996<br>mark : 7/22/1996<br>mark : 4/6/1996<br>mark : 1/28/1996<br>terry : 1/23/1996<br>mark : 9/17/1995<br>carol : 7/9/1995<br>terry : 6/15/1995<br>davew : 8/5/1994<br>jason : 7/29/1994<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>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 141850
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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HEMOGLOBIN--ALPHA LOCUS 2; HBA2
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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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<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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5-PRIME ALPHA-GLOBIN GENE<br />
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ALPHA-GLOBIN LOCUS, SECOND<br />
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MAJOR 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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HBA2</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 191187006, 36467003, 68913001;
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<strong>ICD10CM:</strong> D56.0, D56.3;
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<strong>ICD9CM:</strong> 282.43;
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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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<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: 16p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:172,876-173,710 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="4">
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<span class="mim-font">
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16p13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Erythrocytosis, familial, 7
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</span>
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</td>
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<td>
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<span class="mim-font">
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617981
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Heinz body anemia
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</span>
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</td>
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<td>
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<span class="mim-font">
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140700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Hemoglobin H disease, deletional and nondeletional
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</span>
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</td>
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<td>
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<span class="mim-font">
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613978
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Thalassemia, alpha-
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</span>
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</td>
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<td>
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<span class="mim-font">
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604131
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</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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<p>The HBA1 (141800) and HBA2 genes encode identical 141-amino acid proteins (summary by Michelson and Orkin, 1983). </p><p>Since at least as early as 1970, 2 alpha loci have been known to exist in some humans (Brimhall et al., 1970): hemoglobins G (Pest) and J (Buda) showed the existence of at least 2 alpha chains in the Hungarians studied (141800.0041, 141850.0008), whereas hemoglobin J (Tongariki) indicated that in Melanesians only 1 alpha locus exists (141800.0077). The alpha locus is apparently double in Chinese (Kan, 1974), whereas in American blacks, chromosomes with single or double alpha loci are about equally frequent (Huisman, 1974). Three members of a Hungarian family had 2 alpha-chain variants (Hb J Buda and Hb G Pest), each variant accounting for 25% of hemoglobin, the rest being Hb A (Brimhall et al., 1974).</p><p>Rucknagel and Dublin (1974) estimated that a chromosome with a single alpha locus has a frequency of about 0.27 in American blacks and about 0.36 in African blacks. Rucknagel and Rising (1975) studied an American black family in which of 5 persons heterozygous for hemoglobin G (Philadelphia), an alpha-chain mutant, 3 had about 30% Hb G and 2 had 40%. They suggested that the former persons have 2 alpha hemoglobin loci and the latter persons 1 such locus. From studies of hemoglobin G (Philadelphia), Baine et al. (1976) also concluded that there is variability in the number of alpha-chain genes in the American black population. In heterozygotes the proportion of Hb G (Philadelphia) was trimodally distributed with modes at about 20%, 30%, and 40%. Baine et al. (1976) concluded that gene dosage accounts for this: 1 G gene out of 4 alpha genes leads to 20% Hb G; 1 G gene out of 3 alpha genes leads to 30% Hb G; 1 G gene out of 2 alpha genes or 2 G genes out of 4 alpha genes leads to 40% Hb G. </p><p>In Melanesians, Eng et al. (1974) observed homozygous Hb Constant Spring and Hb A. </p><p>From study of Hb J (Mexico) in an Algerian family, Trabuchet et al. (1976) also concluded that the alpha gene was duplicate in some chromosomes and single in others. </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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<h4>
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<span class="mim-font">
|
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<strong>Mapping</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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<p>Although there was no direct proof, Politis-Tsegos et al., 1976 suggested that the 2 alpha-globin genes are closely linked and that unequal crossingover may be responsible for the type of alpha-thalassemia with deleted alpha loci. </p><p>Michelson and Orkin (1983) stated that the genes encoding the alpha-like chains of human hemoglobin form a cluster on the short arm of chromosome 16 that spans approximately 30 kb. </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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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</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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<p>Michelson and Orkin (1980) determined that the HBA1 and HBA2 genes differ significantly in the 3-prime untranslated regions. </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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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</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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<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 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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</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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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</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">
|
|
<p>Two types of deletional alpha-plus-thalassemia are identified by molecular genetic studies. One, termed leftward, shows a deletion of 4.2 kb and removes the entire alpha-2 gene; the other, termed rightward, has a deletion of 3.7 kb and gives rise to a hybrid alpha-2/alpha-1 gene. The 3.7-kb rightward deletion can also remove the entire alpha-1 gene and is 'possibly the most common mutation known to produce a genetic disorder' (Bowden et al., 1987). It is prevalent in most tropical and subtropical populations that have been studied, including African and American blacks, Mediterraneans, Southeast Asians, and some Pacific Island populations. In contrast, the 4.2-kb deletion of the alpha-2 gene is very rare in African blacks and Mediterraneans. The leftward one was found only in Asian cases until the report of a case in East Sicily (Troungos et al., 1984). </p><p>El-Hazmi (1986) found several persons with the leftward deletion alpha-thalassemia in Saudi Arabia, including homozygotes and heterozygotes. Remarkably, in north coastal Papua New Guinea, the 4.2-kb deletion is found in more than 80% of the population and appears to be going to fixation (Oppenheimer et al., 1984). From comparison of the level of hemoglobin Bart (142309) at birth in homozygotes for each of the 2 deletions, Bowden et al. (1987) demonstrated that the alpha-2 gene, when alone on the chromosome, reduces more alpha-globin than does the alpha-1 gene. (Since hemoglobin Bart is a tetramer of gamma chains, the level of this hemoglobin reflects in an inverse manner the amount of alpha chains produced.) </p><p>In a case of alpha-thalassemia, Whitelaw and Proudfoot (1986) showed that the mutation in the 3-prime poly(A) site leads to transcription of the mutant alpha-2 globin gene through into the intergenic sequence past the normal termination site. They interpreted these results as demonstrating that transcriptional termination and 3-prime end processing of mRNA are coupled events for the alpha-2 globin gene. </p><p>Liebhaber et al. (1986) studied 8 separate alpha-globin mutants mapped to the alpha-1 or the alpha-2 locus and demonstrated that the alpha-2 gene encodes 2- to 3-fold more protein than the alpha-1 gene. These results suggested that the human alpha-globin cluster contains a major and a minor locus and that deletions in the alpha-2 gene are more significant in the generation of the alpha-thalassemia phenotype than are deletions in the alpha-1 gene. </p><p>N.B.: Alpha-globin variants for which it is unknown whether HBA1 or HBA2 is involved have been arbitrarily listed under HBA1 (141800).</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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<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>75 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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">
|
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<strong>.0001 HEMOGLOBIN CONSTANT SPRING</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 H DISEASE, NONDELETIONAL, 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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HBA2, TER142GLN
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<br />
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SNP: rs41464951,
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gnomAD: rs41464951,
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ClinVar: RCV000016891, RCV000022602, RCV000169546, RCV000508088, RCV004795423
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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 this variant hemoglobin, named for the community in Jamaica where it was first discovered (Clegg et al., 1971), alpha chains have 172 amino acids rather than the normal 141. Clegg et al. (1971) suggested that this may reflect a chain termination mutation. Hb Constant Spring represents 1 to 2% of the hemoglobin of heterozygotes. When combined with an alpha-thalassemia mutation, Hb H disease (613978) results. It is the alpha-2 or 5-prime alpha-globin gene that is mutant in hemoglobin Constant Spring. Hemoglobin Tak (141900.0279) is a termination defect of the beta chain. </p><p>Hunt and Dayhoff (1972) searched 518 known protein sequences for a 31-amino acid sequence with the largest number of identities to that of the extra piece on hemoglobin Constant Spring. The sequence that had the greatest identity (9 amino acids) was the region 68-98 of the normal alpha chain. See hemoglobin Wayne (141850.0004) for further discussion. </p><p>By use of allele-specific oligonucleotide probes, Kosasih et al. (1988) demonstrated that Hb Constant Spring in a Batak Indonesian family was due to replacement of T by C in the TAA terminal codon of the alpha-2-globin gene, changing it to CAA, the codon for glutamine. This resulted in read-through of the untranslated sequence of the mRNA. </p><p>Hsia et al. (1989) described a sensitive and specific DNA-based screening test for improved detection of the Constant Spring variant using polymerase chain reaction (PCR) and allele-specific oligonucleotide slot-blot hybridization. Since the Constant Spring protein is difficult to detect by electrophoresis, Hsia et al. (1989) suspected that the true incidence of the Constant Spring variant may be greater than previously suspected on the basis of protein electrophoresis. </p><p>Laig et al. (1990) found Hb CS gene frequencies between 0.05 and 0.06 in northeastern Thailand. The Lao-speaking populations of the Mekong River basin were found to have the highest frequencies of the gene in Southeast Asia. </p><p>To identify nondeletion types of Hb H disease in Guangxi, China, Wen et al. (1992) designed 3 primers: one specific for HBA1 DNA, another specific for HBA2 DNA, and a third that was common to the 2. In 27 of 59 Hb H cases (45.8%), it was possible to confirm the disorder as nondeletional in type. Of these, 22 (81.5%) had the Hb Constant Spring mutation and one had the Hb Quong Sze mutation (141850.0005). The nondeletion Hb H disease in Guangxi seemed to be more severe than the deletion types. </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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<h4>
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<span class="mim-font">
|
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<strong>.0002 HEMOGLOBIN ICARIA</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 H DISEASE, NONDELETIONAL, 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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HBA2, TER142LYS
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<br />
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SNP: rs41464951,
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gnomAD: rs41464951,
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ClinVar: RCV000016893, RCV000022603, RCV000985726, RCV002250461, RCV004017255
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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>Abnormally long alpha chain. Lysine is the 142nd amino acid. Glutamine is the corresponding amino acid in the abnormally long alpha chain of Hb Constant Spring (141850.0001), which like Hb Icaria is the result of a terminator mutation (Clegg et al., 1974). The mutation is a TAA-to-AAA change in codon 142 of the alpha-2 chain, converting it from 'stop' to lysine. In a Yugoslavian teenager with moderate anemia with severe microcytosis and hypochromia and 16% Hb H, Efremov et al. (1990) identified the TAA-to-AAA mutation at codon 142 of the alpha-2 globin gene. The patient also had an alpha-thalassemia-1 deletion of about 20.5 kb, common in Mediterranean populations. The one remaining alpha-1 globin gene was apparently able to compensate sufficiently for the loss of the 3 alpha-globin genes to maintain a hemoglobin level of 8-9 g/dl. </p><p>The interaction of Hb Icaria with the Mediterranean type of alpha thalassemia resulted in severe Hb H disease (613978); splenectomy resulted in marked amelioration of clinical features (Kanavakis et al., 1996). </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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<h4>
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<span class="mim-font">
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<strong>.0003 HEMOGLOBIN KOYA DORA</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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HBA2, TER142SER
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<br />
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SNP: rs41321345,
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gnomAD: rs41321345,
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ClinVar: RCV000016894, RCV000759055, RCV004546413, RCV005007856
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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>Excessive length of alpha-like chain (with at least 156 amino acids rather than 141). De Jong et al. (1975) found that about 10% of members of the Koya Dora tribe in Andhra Pradesh, India, carry this variant hemoglobin. They found 2 persons with 2 alpha chain variants, Hb Rampa and Hb Koya Dora, plus normal Hb A. This indicates that this population carries 2 alpha chain loci. Hb Koya Dora resembles Hb Constant Spring (141850.0001) in many respects including its alpha-thalassemia-like expression. Serine is substituted at position 142 of the alpha-2 chain (glutamine in Hb Constant Spring and lysine in Hb Icaria). </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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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HEMOGLOBIN WAYNE</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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HBA2, LYS139ASN
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<br />
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SNP: rs63750520,
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ClinVar: RCV000016896, RCV000507225, RCV001831574
|
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|
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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>Two hemoglobins, Hb W1 and Hb W2, with anomalous alpha chains were observed in several members of a family. The alpha T-14 peptide was replaced by a new peptide which was different in the 2. The sequence in Hb A which was missing was thr-ser-lys-tyr-arg-COOH. In W1 it was replaced by thr-ser-asn-thr-val-lys-leu-glu-pro-arg-COOH. Hb W2 had the same peptide except that aspartic acid had been substituted for asparagine in the third position. This was believed to represent the result of enzymatic deamidation of Hb W1. This was the first reported frameshift mutation in man. Deletion of a single nucleotide yields the sequence observed in Hb W1. If the usual nucleotide sequence in the alpha chain gene is ACX.UCX.AAA(G).UAC.CGU.UAA signifying thr-ser-lys-tyr-arg-terminator, then hemoglobin Wayne has had a deletion of the third nucleotide of codon 139 resulting in frameshift to ACX.UCX.AAU.ACC.GUU.AAG.CUG.GAG etc., which reads thr-ser-asn-thr-val-lys-leu-glu-etc. This interpretation agrees with that for hemoglobin Constant Spring (141850.0001), which appears to be a change in the first nucleotide of the terminator codon so that the above sequence becomes ACX.UCX.AAA.UAC.CGU.CAA.GCU.GGA etc., which is read as thr-ser-lys-tyr-arg-gln-ala-gly-etc. The mutation in Hb Wayne is in the alpha-2 gene. See Seid-Akhavan et al. (1976) and Stamatoyannopoulos et al. (1980). In a Canadian family of Scandinavian descent, Salkie et al. (1992) described Hb Wayne in a mother and all of her 4 children. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HEMOGLOBIN QUONG SZE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
HBA2, LEU125PRO
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|
<br />
|
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|
|
SNP: rs41397847,
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|
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|
|
|
gnomAD: rs41397847,
|
|
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|
|
|
ClinVar: RCV000016897, RCV000417220, RCV001811168, RCV002476982
|
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|
|
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Goossens et al. (1982) described another nondeletion mechanism: mutation in the 125th codon of the alpha-2 gene resulted in substitution of proline for leucine in a region of the H helix of the alpha-globin chain, which is critical for alpha-beta contact, resulting in impediment to alpha-beta dimer formation, the initial step in hemoglobin tetramer assembly. Thus, the alpha-thalassemia phenotype results from a novel posttranslational mechanism. Goossens et al. (1982) named the mutant Quong Sze, after the province in China where the mother of their proband was born. Liang et al. (1991) reported a second example of this mutation in a Chinese family in Guangxi (Quong Sze). Hb Quong Sze is a highly unstable alpha-chain variant; because the abnormal alpha chains are rapidly catabolized, the abnormal hemoglobin is difficult to detect in reticulocytes. Identification was made through gene analysis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HEMOGLOBIN EVANS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, VAL62MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41515649,
|
|
|
|
|
|
|
|
ClinVar: RCV000016898
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the alpha-2 chain of hemoglobin from a Caucasian female with mild hemolytic anemia, Wilson et al. (1989) demonstrated substitution of methionine for valine at position 62. Dot-blot analysis of amplified DNA using synthetic oligonucleotide probes confirmed the suspected G-to-A mutation in the first position of codon 62; GTG was changed to ATG. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HEMOGLOBIN SUAN-DOK</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU109ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41479844,
|
|
|
|
|
|
|
|
ClinVar: RCV000016899, RCV001078246
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Sanguansermsri et al. (1979). Hb Suan-Dok has an alpha-thalassemia-like effect due to low production and instability of the altered alpha-globin chain. Since the mutation (CTG to CGG) creates a new SmaI restriction site, Hundrieser et al. (1990) diagnosed the mutation by restriction analysis. Furthermore, they confirmed location of the mutation in the HBA2 gene. The hemoglobin was identified in a family from the province of Lampang in Northern Thailand. Weiss et al. (1990) concluded that the thalassemia associated with the Suan-Dok mutation results from instability of the mutant alpha-globin. </p><p>Regtuijt et al. (2004) described Hb Suan-Dok in a 58-year-old black female from Curacao (West Indies) with persistent microcytic hypochromic anemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HEMOGLOBIN J (BUDA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LYS61ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033598, rs33985574,
|
|
|
|
|
|
|
|
ClinVar: RCV000016900, RCV000641281
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb J (Buda) and Hb G (Pest) (141800.0041), both alpha-chain mutants, occurred together in a Hungarian male with erythrocytosis (ECYT7; 617981). The occurrence of some normal Hb A in this man showed the existence of at least 2 alpha loci. See Hollan et al. (1972) and Brimhall et al. (1974). By selectively amplifying the alpha-1 and alpha-2-globin cDNAs and hybridizing them to allele-specific oligonucleotides, Mamalaki et al. (1990) demonstrated that the J-Buda variant has a change in the alpha-2 gene, namely, a change from AAG to AAC in codon 61. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HEMOGLOBIN SPANISH TOWN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, GLU27VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864823, rs33964507,
|
|
|
|
|
|
|
|
ClinVar: RCV000016892
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Ahern et al. (1976). Cash et al. (1989) demonstrated that the Spanish Town mutation is located in the HBA2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 HEMOGLOBIN J (OXFORD)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN I (INTERLAKEN)<br />
|
|
HEMOGLOBIN N (COSENZA)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, GLY15ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34956202,
|
|
|
|
|
|
|
|
ClinVar: RCV000016902, RCV000016903, RCV000016904
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Liddell et al. (1964), Marti et al. (1964), Silvestroni et al. (1967), and Harano et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 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">
|
|
|
|
HBA2, LYS16GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281865555, rs41407250,
|
|
|
|
|
|
gnomAD: rs41407250,
|
|
|
|
|
|
ClinVar: RCV000016905, RCV000016906, RCV000016907, RCV000016908, RCV000016909, RCV000985727
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>The hemoglobin I mutation is curious in that it is encoded at both the HBA1 locus (see 141800.0055) and at the HBA2 locus (Liebhaber et al., 1984). This is presumably an example of gene conversion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 HEMOGLOBIN L (FERRARA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN HASHARON<br />
|
|
HEMOGLOBIN SINAI<br />
|
|
HEMOGLOBIN SEALY
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASP47HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864834, rs34269448,
|
|
|
|
|
|
gnomAD: rs281864834,
|
|
|
|
|
|
ClinVar: RCV000016910, RCV000016911, RCV000016912, RCV000016913, RCV001275680, RCV001544589, RCV005016273
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Silvestroni et al. (1960, 1960), Bianco et al. (1963), Halbrecht et al. (1967), Ostertag and Smith (1968), Charache et al. (1969), Nagel et al. (1969), Lehmann and Vella (1974), Tentori (1977), and Pich et al. (1978). The family in which hemoglobin Sealy was found was Ashkenazi (Schneider et al., 1968). (Hemoglobin Beilinson was also found in an Ashkenazi Jewish family and has a substitution of glycine for aspartic acid at alpha 47.) See Benesch et al. (1982). This is a mutation of the HBA2 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 HEMOGLOBIN MONTGOMERY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN BIRMINGHAM (USA)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU48ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41392146,
|
|
|
|
|
|
|
|
ClinVar: RCV000016914, RCV000016915, RCV000759782, RCV001826471, RCV004689421
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Brimhall et al. (1975), Huisman et al. (1980), and Mrad et al. (1988). The designation of this hemoglobin was changed to Hb Montgomery when it was discovered that Hb Birmingham had already been used for an alpha variant hemoglobin from Birmingham, England (Hb J Birmingham) (Schneider, 1974). This is a mutation of the HBA2 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 HEMOGLOBIN G (BRISTOL)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN D (BALTIMORE)<br />
|
|
HEMOGLOBIN D (ST. LOUIS)<br />
|
|
HEMOGLOBIN D (WASHINGTON)<br />
|
|
HEMOGLOBIN G (AZAKUOLI)<br />
|
|
HEMOGLOBIN G (KNOXVILLE)<br />
|
|
HEMOGLOBIN G (PHILADELPHIA)<br />
|
|
HEMOGLOBIN KNOXVILLE-1<br />
|
|
HEMOGLOBIN STANLEYVILLE-I
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASN68LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033601,
|
|
|
|
|
|
|
|
ClinVar: RCV000016916, RCV000016917, RCV000016918, RCV000016919, RCV000016920, RCV000016921, RCV000016922, RCV000016923, RCV000016924
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 HEMOGLOBIN INKSTER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASP85VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41331747,
|
|
|
|
|
|
|
|
ClinVar: RCV000016925, RCV000641307, RCV001284143
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Reed et al. (1974). This is a mutation of the HBA2 gene (Cash et al., 1989). </p><p>Aguinaga et al. (2000) found the same hemoglobin variant in a nonsmoking 49-year-old Caucasian male who presented with polycythemia (ECYT7; 617981). The authors stated that this was the first report of Hb Inkster associated with polycythemia in a patient with an otherwise unexplained erythrocytosis. </p><p>(Polycythemia, erythrocytosis, and erythremia are synonyms meaning increased red blood cell mass. Authors use the terms interchangeably, although erythremia is now almost obsolete.)</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 HEMOGLOBIN COLUMBIA MISSOURI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ALA88VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33983416,
|
|
|
|
|
|
|
|
ClinVar: RCV000016895, RCV000641309
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-year-old white man who was undergoing assessment for erythrocytosis (ECYT7; 617981), Perry et al. (1991) found a hemoglobin variant resulting from substitution of valine for alanine-88 in the alpha-2 chain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 HEMOGLOBIN SUN PRAIRIE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ALA130PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41529844,
|
|
|
|
|
|
gnomAD: rs41529844,
|
|
|
|
|
|
ClinVar: RCV000016926, RCV000759053, RCV003234911, RCV005007857
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Harkness et al. (1990) and Plaseska et al. (1990) identified this variant hemoglobin in an Asiatic Indian child and an Asiatic Indian adult, respectively. The child was apparently homozygous for a G-to-C mutation in codon 130 of the alpha-2-globin gene resulting in marked microcytosis and hypochromia. The patient reported by Plaseska et al. (1990) was heterozygous. The change at codon 130 was GCT-to-CCT. </p><p>Ho et al. (1996) found Hb Sun Prairie in an Asian-Indian family in which 2 daughters were homozygous for this unstable alpha-2-globin variant. They showed chronic hemolysis, whereas the heterozygous parents were asymptomatic with a thalassemia carrier phenotype, distinct from the chronic hemolytic state previously described in a heterozygote. Unlike the earlier cases in which family studies were not available, this family clearly exhibited autosomal recessive inheritance, unusual among variants within the same region of helix H. Globin chain biosynthesis ratios initially suggested a beta-thalassemic hemoglobinopathy; this was excluded by normal sequence analysis of both beta-globin genes. </p><p>Sarkar et al. (2005) studied the effects of coinheritance of the Hb Sun Prairie mutation with a point mutation in the 5-prime UTR on the same HBA2 chromosome in both heterozygous and homozygous states in the eastern Indian population. Depression of translation because of the second mutation of a conserved base in the 5-prime UTR was thought to account for clinical severity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 HEMOGLOBIN BOYLE HEIGHTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASP6DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34623271,
|
|
|
|
|
|
|
|
ClinVar: RCV000016927
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Johnson et al. (1981, 1983). Hb Boyle Heights was originally observed in an adult Mexican male. Zhao et al. (1990) observed it in a Caucasian family living in South Carolina. They demonstrated that the mutation is in the major alpha-globin gene, Hb A(2). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 HEMOGLOBIN DAVENPORT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASN78HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033602, rs33964623,
|
|
|
|
|
|
|
|
ClinVar: RCV000016928
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wilson et al. (1990) found a new, stable alpha-chain variant in 2 members of a Caucasian family living in Iowa. Hematologic data were within normal limits. The hemoglobin moved between Hb A and Hb F in isoelectric focusing (IEF) and eluted slightly faster than Hb A2 in cation exchange HPLC. The family was of German descent. Replacement of asparagine by histidine at position 78 was identified. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 ALPHA-THALASSEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, MET1THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033603,
|
|
|
|
|
|
|
|
ClinVar: RCV000016929, RCV003654177
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Pirastu et al. (1984) demonstrated that a nondeletion form of alpha-thalassemia was due to an initiation codon mutation (AUG to ACG) changing methionine to threonine. </p><p>Ayala et al. (1996) studied 10 Spanish families with nondeletional alpha-thalassemia. In 9, they identified a 5-bp deletion at the donor site of IVS1; in 1 case, they identified the ATG-to-ACG transition in the initiation codon. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 ALPHA-THALASSEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, GLU116TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33987053,
|
|
|
|
|
|
gnomAD: rs33987053,
|
|
|
|
|
|
ClinVar: RCV000016930
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an American black woman with alpha-thalassemia, Liebhaber et al. (1987) demonstrated a premature termination mutation at codon 116 (GAG to UAG) changing a glu residue to 'stop.' </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 HEMOGLOBIN H DISEASE, NONDELETIONAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, MET1VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909803, rs34220980,
|
|
|
|
|
|
gnomAD: rs34220980,
|
|
|
|
|
|
ClinVar: RCV000016931, RCV001078242, RCV001284141, RCV005016274
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family ascertained on the basis of hemoglobin H disease (613978), Olivieri et al. (1987) found a new nondeletion form of alpha-thalassemia mutation, an A-to-G substitution in the initiation codon of the HBA2 gene that changed methionine to valine. This mutation abolished an NcoI restriction site and was therefore detectable in genomic DNA by Southern blot analysis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 HEMOGLOBIN HANAMAKI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ERYTHROCYTOSIS 7, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LYS139GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41361546,
|
|
|
|
|
|
gnomAD: rs41361546,
|
|
|
|
|
|
ClinVar: RCV000016932, RCV000641316
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 56-year-old Japanese female who by HPLC appeared to have an abnormally high level of Hb A(1c), Orisaka et al. (1992) found a lys139-to-glu mutation. The mother and 1 of 3 brothers also had the abnormal hemoglobin. The mutation in Hb Tokoname (141800.0149) resides in the same codon. The oxygen affinity properties of the 2 hemoglobins are similar. A second case of Hb Hanamaki was described by Rahbar et al. (1994) in an American family with erythrocytosis (ECYT7; 617981). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 ALPHA-THALASSEMIA-2, NONDELETIONAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, 3-UNT, A-G, +4
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750067,
|
|
|
|
|
|
gnomAD: rs63750067,
|
|
|
|
|
|
ClinVar: RCV000016933, RCV000022604, RCV000507591, RCV001831575, RCV002476983, RCV003989291, RCV004017256
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large family from southern Turkey, Yuregir et al. (1992) observed nondeletional alpha-thalassemia-2 resulting from an A-to-G mutation at nucleotide 4 in the polyadenylation signal of the HBA2 gene: AATAAA to AATGAA. The same A-to-G replacement was present in the alpha-1 pseudogene. The mutation must cause a considerable alpha-chain deficiency as evidenced by the hematologic data in 5 members of a family with Hb H disease (613978) due to compound heterozygosity for alpha-thalassemia-1 and the newly discovered poly(A) mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 HEMOGLOBIN KURDISTAN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASP47TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864834, rs34269448,
|
|
|
|
|
|
gnomAD: rs281864834,
|
|
|
|
|
|
ClinVar: RCV000016934
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Giordano et al. (1994) reported a new alpha chain variant (Hb Kurdistan) in a 15-year-old Kurdish refugee girl and her family from Amdea, Iraq. Amplification and DNA analysis of both alpha genes indicated an asp-to-tyr substitution (GAC-to-TAC) at position 47 of the HBA2 gene. Replacement with the larger aromatic side chain of tyrosine at this position does not induce any significant instability in the hemoglobin molecule. In the proband's brother, this variant was associated with a beta-thalassemia nonsense mutation at codon 39. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 HEMOGLOBIN AGRINIO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU29PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41341344,
|
|
|
|
|
|
|
|
ClinVar: RCV000016937, RCV000022605, RCV000759059, RCV004700242
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Agrinio was discovered by Hall et al. (1993) in 3 individuals of Greek origin with an atypical form of Hb H disease (613978) characterized by a severe hypochromic, microcytic anemia. Hall et al. (1993) indicated that the mutation consisted of a T-to-C transition in codon 29 of the HBA2 gene causing a leucine-to-proline transition. Although each affected individual was a compound heterozygote for Hb Agrinio and a previously described mutation affecting the poly(A) addition signal of the HBB gene (141900.0383), simple heterozygotes for the leu29-to-pro mutation have the phenotype of the alpha-thalassemia trait.</p><p>Traeger-Synodinos et al. (1998) reported the first case of homozygosity for Hb Agrinio. The leu29-to-pro amino acid substitution in alpha-2-globin was caused by a CTG-to-CCG transition. The 12-month-old Greek proband presented with marked hypochromic microcytic anemia, a very low level of Hb H, rare Hb H inclusions, and a balanced alpha/non-alpha biosynthesis ratio. At the age of 13 years, the proband had a clinical phenotype compatible with mild thalassemia intermedia with moderate anemia (Hb = 7-8 g/dL), normal growth and development, slight splenomegaly, and minimal bone changes, while Hb H and inclusion bodies were not detected. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 HEMOGLOBIN PAKSE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, TER142TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41412046,
|
|
|
|
|
|
gnomAD: rs41412046,
|
|
|
|
|
|
ClinVar: RCV000016938, RCV000508511, RCV001831576
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Laotian girl with hemoglobin H disease (613978), Waye et al. (1994) found a TAA-to-TAT mutation converting the termination codon to a tyrosine residue. The mutation gave rise to an elongated mRNA that would code for an alpha-globin chain of 172 amino acid residues instead of the normal 141 residues. The proband's father also carried the mutation. The proband was a compound heterozygote for the Southeast Asian alpha-thalassemia-1 deletion and the novel termination codon mutation. Four previous mutations involving the termination codon of the alpha-2-globin gene had been reported: Hb Constant Spring (141850.0001); Hb Icaria (141850.0002); Hb Koya Dora (141850.0003); and Hb Seal Rock (141850.0028). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 HEMOGLOBIN SEAL ROCK</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, TER142GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41464951,
|
|
|
|
|
|
gnomAD: rs41464951,
|
|
|
|
|
|
ClinVar: RCV000016939, RCV000759054, RCV001275682
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hemoglobin Seal Rock carries a TAA-to-GAA mutation that converts the termination codon of the HBA2 gene to glu (Bradley et al., 1975; Bunn and Forget, 1986). Like 4 other mutations in the termination codon of the HBA2 gene, the mutant allele codes for an alpha-chain variant of 172 amino acid residues that result in unstable elongated mRNA molecules.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 HEMOGLOBIN ANAMOSA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ALA111VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928889, rs41457351,
|
|
|
|
|
|
gnomAD: rs41457351,
|
|
|
|
|
|
ClinVar: RCV000016940
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>So-called 'silent' hemoglobin variants are characterized by the replacement of an amino acid with one having a similar charge. These are usually detected by separations in isoelectric focusing or HPLC because of differences in hydrophobicity. The substitution occasionally may affect the function of physicochemical properties of the variant to determine the clinical or hematologic condition of its carrier. Kazanetz et al. (1995) identified an ala111-to-val substitution in the core peptide of HBA2 due to a change from GCC to GTC. The variant was discovered in a Caucasian baby born in the Anamosa Community Hospital in Anamosa, Iowa, and in his father. Stability tests on all red cell lysates gave negative results, indicating stability of the variant hemoglobin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 HEMOGLOBIN BIBBA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEINZ BODY ANEMIA, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU136PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41469945,
|
|
|
|
|
|
|
|
ClinVar: RCV000203221, RCV000626695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large Caucasian family, Prchal et al. (1995) found that members with congenital Heinz body hemolytic anemia (140700) were carriers of Hb Bibba. Instability of the variant complicated isolation of the protein from shipped blood samples. The mutation at codon 136 of the alpha-2 gene resulted in a change from CTG to CCG and a leu136-to-pro substitution. The first Hb Bibba heterozygote, characterized in 1968 by Kleihauer et al. (1968), was believed to be a member of this family. The clinical expression of the disease was surprisingly variable in severity. Affected persons in 4 generations of the Alabama family had been observed. (Note that the mutation here is located in the HBA2 gene rather than in the HBA1 gene, as previously indicated in 141800.0011.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 HEMOGLOBIN SALLANCHES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, CYS104TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41417548,
|
|
|
|
|
|
gnomAD: rs41417548,
|
|
|
|
|
|
ClinVar: RCV000016942, RCV000022606, RCV001811170, RCV002051787, RCV004595884, RCV005007858
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Morle et al. (1995) found homozygosity for a mutation in the HBA2 gene resulting in hemolytic anemia associated with a low level of hemoglobin H. The mutation was a TGC-to-TAC transition involving codon 104 and resulting in replacement of a cysteine by tyrosine. In vitro and in vivo biosynthetic studies suggested that the mechanism leading to Hb H disease (613978) in this homozygous patient was related mostly to a significant instability of the dimers between normal beta chains and variant alpha chains. </p><p>Khan et al. (2000) identified Hb Sallanches in a Pakistani family having 3 homozygous patients with transfusion-dependent Hb H disease. The 2 previous reports had been of a French patient and a West Indian patient. The Pakistani cases were thought to have originated as an independent mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 ALPHA-THALASSEMIA TRAIT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, 9-BP DEL/8-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776826,
|
|
|
|
|
|
|
|
ClinVar: RCV000016943
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Efstratiadis et al. (1980) suggested that slipped strand mispairing (SSM) is enhanced by short (2 to 8) direct repeats, which may induce short deletions in mammalian DNA. SSM was later suggested to play an important in the expansion of trinucleotide repeats, causing neurodegenerative disorders such as spinocerebellar ataxia and Huntington disease. In addition, the size variation of microsatellite repeats, such as polymorphic markers, is also thought to result from SSM. SSM probably also leads to the variability in microsatellite repeats seen in tumor cells, reflecting the high degree of genomic instability in those tissues. Thus, SSM appears to be occur both in germline and in somatic cells. Slippage of the replication fork is not in itself sufficient to explain the more complex mutations in which small deletions are combined with insertions. Oron-Karni et al. (1997) described a deletion/duplication mutation in the HBA2 gene that allowed them to formulate a novel mechanism accounting for the generation of this mutation, as well as a number of other human mutations. They found a deletion of 9 bp (codons 39 to 41), which was replaced by a nucleotide insertion, duplicating the adjacent downstream sequence. They proposed that the mutation arose by SSM, creating a single-stranded loop, followed by DNA elongation, strand breathing, and the formation of a mismatch bubble. They found in the literature 6 additional deletion/insertion mutations in humans in which the inserted nucleotides came from the same DNA strand. Their model explained all 6 mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon. The patients in whom they made their initial observations were 2 unrelated individuals of Yemenite-Jewish origin, referred for evaluation of unexplained mild microcytic anemia. The hematologic data were compatible with alpha-thalassemia trait. Because of the rarity of the mutation and the fact that it had been found only in the 2 individuals of Yemenite-Jewish origin, The subjects may have had a common ancestor. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 HEMOGLOBIN NATAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, TYR140TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41507451,
|
|
|
|
|
|
|
|
ClinVar: RCV000016944
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Jogessar et al. (1988). This variant resulted from a TAC (tyr)-to-TAA (stop) transversion in codon 140 of the alpha-globin gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 HEMOGLOBIN WATTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, 3-BP DEL, ASP74DEL OR ASP75DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750943,
|
|
|
|
|
|
|
|
ClinVar: RCV000016945
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Rahbar et al. (1997) described the first example of a trinucleotide deletion in the HBA2 gene. In a Mexican-American family, they found that a slightly unstable alpha-chain hemoglobin variant was due to deletion of an aspartic acid residue through the deletion of GAC at codon 74 or codon 75 of the HBA2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 HEMOGLOBIN CONAKRY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU80VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41466346,
|
|
|
|
|
|
|
|
ClinVar: RCV000016946
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Cohen-Solal et al. (1998) studied a Guinean woman who was heterozygous for hemoglobin S and had episodes of marked anemia, repeated typical metaphyseal painful crises, and hemosiderosis. Her sickling syndrome resulted from the association of Hb S trait with a severe pyruvate kinase (PK) deficiency (266200) leading to a 2,3-diphosphoglycerate (DPG) concentration of twice normal. Sequencing of the PKLR gene revealed a previously undescribed mutation within exon 5: a 2670C-A transversion, leading to a ser130-to-tyr amino acid substitution (609712.0010), which the authors referred to as 'PK Conakry.' In addition, the patient carried a new hemoglobin variant, leu80 to val, referred to as 'Hb Conakry,' which seemed to have a mild effect. The high intraerythrocytic 2,3-DPG concentration induced by the PK deficiency resulted in a decreased oxygen affinity which favored sickling to a level almost similar to that of S/C compound heterozygous patients. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 HEMOGLOBIN J (SARDEGNA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, HIS50ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41461652,
|
|
|
|
|
|
|
|
ClinVar: RCV000016947, RCV001811171
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Tangheroni et al. (1968) and Manca and Masala (1989). </p><p>Paleari et al. (1999) provided molecular characterization of hemoglobin J (Sardegna), which is particularly widespread in northern Sardinia. They characterized the variant at the DNA level as a change of codon 50 of the HBA2 gene from CAC to AAC, predicting a his-to-asn substitution. Protein analysis, however, showed a his-to-asp substitution in the same position. A possible explanation for these findings is that a C-to-A mutation caused the substitution of his for asn, and that the new asn residue subsequently underwent a posttranslational partial deamidation to asp. Indeed, Paleari et al. (1999) identified both the asp and the asn forms of Hb J (Sardegna). </p><p>In addition to J (Sardegna), 6 other rare Hb variants had been reported in which deamidation of an asn residue to an asp occurred as a spontaneous posttranslational modification: Hb J (Singapore) (141800.0075), Hb La Roche-sur-Yon (141900.0482), Hb Osler (141900.0211), Hb Providence (141900.0227), Hb Redondo (141900.0404), and Hb Wayne (141850.0004).</p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
</div>
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|
|
|
|
|
<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 HEMOGLOBIN TARRANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASP126ASN
|
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|
|
<br />
|
|
|
|
SNP: rs33933481, rs63750950,
|
|
|
|
|
|
gnomAD: rs33933481,
|
|
|
|
|
|
ClinVar: RCV000016948, RCV001284150, RCV004689422, RCV005016275
|
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|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Perea et al. (1999) provided the molecular characterization of a hemoglobin variant in a Mexican family. Located in the HBA2 gene, an asp126-to-asn amino acid substitution resulted in a variant with high oxygen affinity. Previously described in 4 families with Mexican ancestors, the variant was known as Hb Tarrant (Moo-Penn et al., 1977). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
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|
|
<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 HEMOGLOBIN ANTANANARIVO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
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|
|
|
HBA2, VAL1GLY
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|
<br />
|
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|
|
SNP: rs33981821,
|
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|
|
|
|
ClinVar: RCV000016949
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>During a systematic hematologic study, Kister et al. (1999) identified a val1-to-gly mutation in the HBA2 gene in a 24-year-old woman who came from Madagascar. The mutation is a clinically silent variant in which the structural modification disturbs the oxygen-linked chloride binding. </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>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 HEMOGLOBIN BOGHE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, HIS58GLN
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs41378349,
|
|
|
|
|
|
gnomAD: rs41378349,
|
|
|
|
|
|
ClinVar: RCV000016950
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Lacan et al. (1999) found Hb Boghe in a 12-month-old girl who was treated for malignant histiocytosis at 9 months of age and received a bone marrow transplant from her sister. Hb Boghe was undetectable by isoelectrofocusing and high performance liquid chromatography of hemoglobins. It was only revealed by polyacrylamide gel electrophoresis of globin chains in the presence of urea-Triton X-100 and accounted for 10% of the total hemoglobin. The amino acid change resulted from a CAC-to-CAA mutation in codon 58. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 HEMOGLOBIN TOULON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, PRO77HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864861, rs34019158,
|
|
|
|
|
|
|
|
ClinVar: RCV000016951
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 apparently unrelated diabetic women living in different parts of France, Badens et al. (1999) found a hemoglobin variant during chromatographic measurement of glycated Hb. Codon 77 of the HBA2 gene was found to be changed from CCC (pro) to CAC (his). </p><p>Waye et al. (2000) reported a second instance of Hb Toulon in a Canadian family of Italian descent. </p><p>Caruso et al. (2002) described what they referred to as the first Italian case of Hb Toulon. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 HEMOGLOBIN CAMPINAS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ALA26VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864822, rs35477770,
|
|
|
|
|
|
gnomAD: rs281864822, rs35477770,
|
|
|
|
|
|
ClinVar: RCV000016952
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wenning et al. (2000) identified an electrophoretically silent hemoglobin variant in a healthy 9-year-old Caucasian Brazilian boy and his mother. The variant, which the authors called Hb Campinas, was a single base substitution at codon 26 of the alpha-2 globin gene: GCG (ala) to GTG (val). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 HEMOGLOBIN NIKAIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, HIS20ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864814, rs34708054,
|
|
|
|
|
|
|
|
ClinVar: RCV000016953
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Prehu et al. (2000) identified Hb Nikaia, a CAC-to-GAC change in the HBA2 gene resulting in a his20-to-asp substitution, in a 50-year-old French Caucasian man during measurement of glycated hemoglobin. The name of the variant was derived from the ancient Greek name of the city of Nice. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 HEMOGLOBIN CLINICO-MADRID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LYS90ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864873, rs33911106,
|
|
|
|
|
|
gnomAD: rs281864873,
|
|
|
|
|
|
ClinVar: RCV000016935
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a newborn in Madrid, Spain, Villegas et al. (2000) found an A-to-G transition in exon 2 of the HBA2 gene, changing codon 90 from AAG (lys) to AGG (arg). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0044 HEMOGLOBIN CLINICO-MADRID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, IVS2AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776827,
|
|
|
|
|
|
|
|
ClinVar: RCV000016954, RCV000022607, RCV001078244, RCV002496386
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Argentinian patient with Hb H disease (613978) and her daughter, Noguera et al. (2001) found a splice acceptor consensus point mutation changing AG to AA in intron 2. Their patient was of Arab and Italian ancestry. The phenotypic expression observed in the heterozygote, namely microcytic erythrocytes, slightly hypochromic, was rather more severe than in individuals with a deleted gene. This observation was thought to be in accord with the fact that the mutation affects HBA2, whose level of expression is 3 times higher than that of the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0045 HEMOGLOBIN DARTMOUTH</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU66PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41323248,
|
|
|
|
|
|
|
|
ClinVar: RCV000016955, RCV004767010
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>McBride et al. (2001) reported a mutation in monozygotic twins and designated it Hb Dartmouth, after the medical center at which the patients were cared for. The mother, of Khmer ancestry, was heterozygous for alpha-thalassemia-1 due to deletion of both HBA1 and HBA2, common in Southeast Asians. The father, of Scottish-Irish ancestry, was a silent carrier of a leu66-to-pro mutation of the HBA2 gene. The twins had severe neonatal anemia requiring transfusion and were compound heterozygotes for the 2 mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0046 HEMOGLOBIN GERLAND</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, VAL55ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63749934,
|
|
|
|
|
|
|
|
ClinVar: RCV000016956
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In studies of a 6-year-old boy with mild microcytic anemia, Lacan et al. (2001) found a neutral alpha-chain variant involving the HBA2 gene and designated it Hb Gerland. A GTT-to-GCT mutation of codon 55 was predicted to result in a substitution of alanine for valine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 HEMOGLOBIN MANITOBA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, SER102ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34098449, rs41344646,
|
|
|
|
|
|
gnomAD: rs34098449,
|
|
|
|
|
|
ClinVar: RCV000016957, RCV001811172
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Manitoba (ser102 to arg) was discovered in a Canadian family by Crookston et al. (1970) and was subsequently found in an Italian patient by Sciarratta et al. (1984). Chang et al. (2001) observed the same variant for the first time in an Asian family in Taiwan. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0048 HEMOGLOBIN PARK RIDGE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASN9LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033604, rs28928885,
|
|
|
|
|
|
|
|
ClinVar: RCV000016936, RCV001811169, RCV001826472
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an apparently well, 6-month-old Caucasian child, Hoyer et al. (2002) found an AAC-to-AAG transversion in codon 9 of the HBA2 gene resulting in an asn9-to-lys (N9K) change. Hb Delfzicht (141800.0208) has the same mutation in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0049 HEMOGLOBIN NORTON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, HIS72ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864855, rs36104787,
|
|
|
|
|
|
|
|
ClinVar: RCV000016958
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-month-old Caucasian child who was apparently well and hematologically normal, Hoyer et al. (2002) found a his72-to-asp mutation in the alpha-2 chain. Three other alpha-chain variants had been reported at this site with no apparent abnormality: Hb Gouda (141800.0198), Hb Fuchu-I (141800.0196), and Hb Daneshgah-Tehran (141800.0026). Hoyer et al. (2002) stated that 4 previously reported beta chain variants with substitution of his77 in the beta-globin chain likewise appeared to be without hematologic effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0050 HEMOGLOBIN LOMBARD</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, HIS103TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750073,
|
|
|
|
|
|
|
|
ClinVar: RCV000016959, RCV004767011
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|
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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 34-year-old male of Italian (Calabrian) ancestry who was clinically well and without hematologic abnormality, Hoyer et al. (2002) described a CAC-to-TAC transition in codon 103 of the HBA2 gene, resulting in a his103-to-tyr substitution. The same mutation had been reported in the HBA1 gene as Hb Charolles (141800.0203) in a person of Sardinian origin, who also had microcytosis that may have been due to mutation of the 3-prime polyadenylation site of the HBA2 gene. </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>.0051 HEMOGLOBIN SAN ANTONIO</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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HBA2, LEU113ARG
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<br />
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SNP: rs281860618, rs35654345,
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|
|
gnomAD: rs281860618, rs35654345,
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ClinVar: RCV000016960
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 1-year-old Caucasian male who was asymptomatic and hematologically normal, Hoyer et al. (2002) found a CTC-to-CGC transversion in codon 113 of the HBA2 gene resulting in a leu113-to-arg (L113R) change. </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>
|
|
<span class="mim-font">
|
|
<strong>.0052 HEMOGLOBIN RAMPA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
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|
|
|
HBA2, PRO95SER
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<br />
|
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|
|
SNP: rs281864881, rs33984621,
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|
|
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|
|
ClinVar: RCV000016961
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Hb Rampa, a pro95-to-ser (P95S) change in the HBA2 gene, was first described in a few members of the Koya Dora tribe of Andhra Pradesh, India (De Jong et al., 1971). Additional cases were reported in a person of north European origin (Smith et al., 1972) and a French-Canadian family (Huisman et al., 1978). Hoyer et al. (2002) described Hb Rampa in a 53-year-old asymptomatic male of German ancestry living in the United States. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
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|
<br />
|
|
</div>
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|
</div>
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|
<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0053 HEMOGLOBIN MANAWATU</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, PRO37LEU
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|
<br />
|
|
|
|
SNP: rs281864826, rs35776155,
|
|
|
|
|
|
gnomAD: rs281864826,
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|
|
|
|
|
ClinVar: RCV000016962
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Brennan et al. (2002) described Hb Manawatu, a pro37-to-leu (P37L) variant of the HBA2 gene, in a 28-year-old female of British descent living in New Zealand who was heterozygous for a CCC-to-CTC transition. The authors stated that the only other recorded mutation at position alpha-37(C2) was Hb Bourmedes, a pro37-to-arg (P37R; 141800.0012) change in the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0054 HEMOGLOBIN G (HONOLULU)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN G (HONG KONG)<br />
|
|
HEMOGLOBIN G (SINGAPORE)<br />
|
|
HEMOGLOBIN G (CHINESE)
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, GLU30GLN
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs111033605, rs33993166,
|
|
|
|
|
|
gnomAD: rs111033605, rs33993166,
|
|
|
|
|
|
ClinVar: RCV000016963, RCV000016964, RCV000016965, RCV000016966
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See Schneider and Jim (1961), Lehmann (1962), Swenson et al. (1962), and Lie-Injo et al. (1979). The original Hb G (Chinese) variant was thought to have a beta-chain substitution (Gammack et al., 1961). </p><p>Chang et al. (2002) observed this variant in a Taiwanese family and found that it was caused by a G-to-C substitution at the first base of codon 30 (GAG-to-CAG) of the HBA2 gene, resulting in the substitution of a glutamic acid residue by glutamine (E30Q). The mutation created a PstI restriction site and abolished an authentic BstNI site. </p><p>Shih et al. (2003) identified Hb G (Chinese) with alpha-thalassemia-1 of the Thai type in a Taiwanese family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0055 HEMOGLOBIN PRATO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ARG31SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033606,
|
|
|
|
|
|
|
|
ClinVar: RCV000016967
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Marinucci et al. (1979) described this hemoglobin variant in a family of Sicilian origin living in Prato (near Florence in northern Italy). De Marco et al. (1992) found Hb Prato in a Calabrian family. The replacement of the arginine residue by serine occurs at position 31 (arg31 to ser; R31S) of the alpha-2-globin chain. Shih et al. (2003) observed this variant in a Taiwanese individual who was a compound heterozygote for Hb Prato and alpha-thalassemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0056 ALPHA-THALASSEMIA, DUTCH TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, IVS1, A-G, -116
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41457746,
|
|
|
|
|
|
gnomAD: rs41457746,
|
|
|
|
|
|
ClinVar: RCV000016968, RCV001572897, RCV002482879
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Harteveld et al. (1996) described an IVS1-116A-G acceptor splice site mutation in the HBA2 gene, causing a very mild alpha(+)-thalassemia phenotype, in 2 Dutch families. </p><p>Harteveld et al. (2003) reported a third independent case of this alpha-thalassemia point mutation in a healthy 23-year-old Dutch woman; this was the first case defining the phenotype in combination with a frequent alpha(+)-thalassemia deletion defect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0057 ALPHA-THALASSEMIA, ZF TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, METHYLATION SILENCING DUE TO ANTISENSE TRANSCRIPT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000016969
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Barbour et al. (2000) reported an individual (called ZF) with alpha-thalassemia due to a unique deletion (called alpha(-)-ZF) that removed the HBA1 gene (141800) and the HBQ1 gene (142240) and juxtaposed a region that normally lies approximately 18 kb downstream of the alpha-globin cluster to a site next to the structurally normal HBA2 gene. The alpha(-)-ZF deletion did not remove any positive cis-acting sequences, but expression of the structurally intact alpha-globin gene was stably silenced and, during development, its CpG island became densely methylated and insensitive to endonucleases over a region of approximately 2 kb. Tufarelli et al. (2003) showed that the deletion had truncated the widely expressed gene LUC7L (607782), which is transcribed from the opposite DNA strand. They showed that in the affected individual, in a transgenic model, and in differentiating embryonic stem cells, transcription of antisense RNA mediated silencing and methylation of the associated CpG island. This was identified as a novel mechanism underlying human genetic disease. </p><p>In a review of epimutation mechanisms in metabolic disorders including ZF-type alpha-thalassemia, Gueant et al. (2022) discussed that, in a mouse stem cell model, promotor methylation was triggered by antisense LUC7L transcription, which occurred during cell differentiation (as opposed to the epimutation being present in germ cells). Thus, the epimutation was not considered to be constitutional. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0058 HEMOGLOBIN CHARTRES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, PHE33SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41430445,
|
|
|
|
|
|
|
|
ClinVar: RCV000016970
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Prehu et al. (2003) found a new phe33-to-ser (F33S) variant (designated Hb Chartres) in the HBA2 gene in a 31-year-old female of French origin presenting with mild microcytic hypochromic anemia. No family studies could be performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0059 HEMOGLOBIN FUKUI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LYS139ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41393644,
|
|
|
|
|
|
|
|
ClinVar: RCV000016971
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Harano et al. (2003) found a lys139-to-asn (K139N) missense mutation, resulting from an AAA-to-AAC transversion, in a 52-year-old Japanese male. The change was in the same position 139 of the alpha-2 chain as hemoglobin Tokoname (K139T; 141800.0149) and Hb Hanamaki (K139E; 141850.0023), 2 variants found in Japanese, both of which show high oxygen affinity. Harano et al. (2003) found that the nucleotide sequence of Hb Tokoname was ACA instead of AAA at codon 139 of the alpha-2-globin gene. In the case of Hb Hanamaki, 9 of 12 Japanese families found Honshu, the main island of Japan, were investigated, and the nucleotide sequence GAA instead of AAA was identified at codon 139 of the alpha-1-globin gene. However, in 1 family found in Kyushu, the western most main island, the mutation was identified in the alpha-2-globin gene. Thus, 3 different types of mutation at the same codon of the alpha-globin gene were discovered in the same population and, moreover, in the case of Hb Hanamaki, the nucleotide mutation was observed in both the alpha-1- and the alpha-2-globin genes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0060 HEMOGLOBIN PART-DIEU</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ALA65THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs41510746,
|
|
|
|
|
|
|
|
ClinVar: RCV000016972
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 58-year-old man of French Caucasian origin living in Lyon, France, Lacan et al. (2004) identified an ala65-to-thr (A65T) mutation in the HBA2 gene. The patient suffered from type II diabetes (125853) and had hepatomegaly, splenomegaly, microlithiasis, hypercholesterolemia, and hypertriglyceridemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0061 HEMOGLOBIN DECINES-CHARPIEU</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ALA69THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63749997,
|
|
|
|
|
|
|
|
ClinVar: RCV000016973
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old man of French Caucasian origin living in the city of Decines-Charpieu in the south of France, Lacan et al. (2004) identified an ala69-to-thr (A69T) mutation in the HBA2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0062 HEMOGLOBIN VAL DE MARNE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HEMOGLOBIN FOOTSCRAY
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, SER133ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs33960790, rs41514946, rs55948437, rs56308100,
|
|
|
|
|
|
gnomAD: rs41514946, rs56308100,
|
|
|
|
|
|
ClinVar: RCV000016974
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Two different research teams, Wajcman et al. (1993) and Owen and Hendy (1994), independently reported this hemoglobin variant, a ser133-to-arg (S133R) substitution. Wajcman et al. (1993) discovered the mutation (named Hb Val de Marne) in 2 French newborns who were first cousins. Owen and Hendy (1994) found the hemoglobin variant (named Hb Footscray) in a 27-year-old male of Polish-Hungarian descent. Position 133 is an internal residue located near the heme pocket and the C-terminal end of the alpha subunit. The mutation from serine to arginine at this position may facilitate the access of oxygen, or water, to the heme iron. When compared to adult hemoglobin (Hb A), the variant hemoglobin's oxygen affinity is increased 1.7-fold and the autooxidation rate is slightly increased. </p><p>Ma et al. (2004) demonstrated that the S133R mutation, caused by an AGC-to-AGA transversion, is due to mutation in the HBA2 gene and not in the HBA1 gene. They found the variant in a 15-year-old Chinese girl and her father. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0063 ALPHA-THALASSEMIA</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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HBA2, GLU23TER
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|
<br />
|
|
|
|
SNP: rs281864819, rs33939620,
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|
|
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|
|
|
ClinVar: RCV000016976, RCV000985729
|
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|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Siala et al. (2004) described a 3-year-old Tunisian girl who had Hb Bart (gamma-4) at birth, later on presenting with moderate anemia, microcytosis, and hypochromia; she had a normal HBA2 level and no abnormal hemoglobin fraction. After excluding most of the common Mediterranean mutations, sequencing of the HBA2 gene identified a heterozygous change of codon 23 from GAG (glu) to TAG (ter) (glu23 to ter). The E23X mutation was also found in the mother in heterozygous state. </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">
|
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<strong>.0064 ALPHA-PLUS-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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HBA2, GLY22GLY
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<br />
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SNP: rs63751457,
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gnomAD: rs63751457,
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ClinVar: RCV000016977, RCV000759057, RCV001002048, RCV001275678
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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 79-year-old woman of Surinamese-Hindustani origin with moderate microcytic hypochromic anemia, Harteveld et al. (2004) identified a silent mutation at codon 22 of the HBA2 gene, GGC (gly) to GGT (gly) (gly22 to gly), resulting in a splice donor site consensus sequence between codons 22 and 23. The abnormally spliced mRNA led to a premature termination between codons 48 and 49. The presence of a downstream intron was thought to induce the intracellular degradation of the affected mRNA, through the pathway of nonsense-mediated decay (NMD), thus explaining the alpha(+)-thalassemia phenotype of the patient. The C-to-T transition was said to be the first reported mutation creating a splice donor site in 1 of the alpha-globin genes. </p>
|
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</span>
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|
</div>
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<div>
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|
<br />
|
|
</div>
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</div>
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|
<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0065 HEMOGLOBIN ZURICH ALBISRIEDEN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
ALPHA-PLUS-THALASSEMIA, INCLUDED
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, GLY59ARG
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|
<br />
|
|
|
|
SNP: rs41328049,
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|
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|
|
|
gnomAD: rs41328049,
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|
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ClinVar: RCV000016978, RCV000016979, RCV002051788, RCV003736541
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient presenting with persistent hypochromic microcytosis and erythrocytosis, Dutly et al. (2004) identified a G-to-C transversion in the HBA2 gene, resulting in a gly59-to-arg (G59R) substitution. The defect, designated Hb Zurich Albisrieden, was not detected at the protein level and led to alpha-plus-thalassemia. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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|
</div>
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</div>
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|
|
<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0066 HEMOGLOBIN PASSY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, SER81PRO
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|
<br />
|
|
|
|
SNP: rs41484451,
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|
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|
|
|
|
ClinVar: RCV000016980
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-month-old Turkish boy investigated for anemia with hypochromia and microcytosis, Lacan et al. (2005) identified a TCC-to-CCC transition in codon 81 of the HBA2 gene, resulting in substitution of proline for serine (S81P). </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0067 HEMOGLOBIN PLASENCIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LEU125ARG
|
|
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|
|
<br />
|
|
|
|
SNP: rs41397847,
|
|
|
|
|
|
gnomAD: rs41397847,
|
|
|
|
|
|
ClinVar: RCV000016981, RCV000985724, RCV001826473, RCV005007859
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish family residing in Plasencia with moderate microcytosis and hypochromia, Martin et al. (2005) identified heterozygosity for a CTG-to-CGG transversion at codon 125 of the HBA2 gene, resulting in a leu125-to-arg substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0068 HEMOGLOBIN KUROSAKI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, LYS7GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34817956,
|
|
|
|
|
|
|
|
ClinVar: RCV000016982, RCV003114197
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the course of assaying glycosylated hemoglobin in a diabetic patient, Harano et al. (1995) found a new alpha-chain variant, which they named Hb Kurosaki after the city where the patient lived. Structural analysis demonstrated substitution of glutamic acid for lysine at position 7. From studies of a 30-year-old Thai male with normal hematologic profile at the steady state, Ngiwsara et al. (2005) found the same hemoglobin variant and demonstrated that the mutation was localized to the HBA2 gene and was caused by heterozygosity for an AAG-to-GAG transition in codon 7. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0069 HEMOGLOBIN H DISEASE, NONDELETIONAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, 1-BP DEL, 2T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750678,
|
|
|
|
|
|
|
|
ClinVar: RCV000016983, RCV000985719, RCV001831577, RCV005007860
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Viprakasit et al. (2005) stated that in Thailand at least 7,000 new cases of Hb H disease (613978) are expected each year, because nearly 25% of the population is heterozygous for either deletional or nondeletional alpha-thalassemia determinants. The clinical phenotypes of affected individuals with Hb H disease are highly variable, ranging from stillbirths in Hb Bart hydrops fetalis to very mild clinical symptoms. Viprakasit et al. (2005) described a rare initiation codon mutation of the HBA2 gene, a 1-bp deletion of thymine at the second nucleotide of the ATG initiation codon, in compound heterozygous state with alpha-0-thalassemia. Other reported changes in the initiation codon of HBA2 are met1 to thr (141850.0020) and met1 to val (141850.0022). </p><p>This mutation was described for the first time by Waye et al. (1997) in an 8-year-old Canadian girl of Vietnamese descent. Pallor had been evident since birth, and hypochromic microcytic anemia was first documented at age 20 months. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0070 HEMOGLOBIN AL-HAMMADI RIYADH</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASP75VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864859, rs33991223,
|
|
|
|
|
|
|
|
ClinVar: RCV000016984
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>During a routine hemoglobin analysis for anemia in a 16-month-old boy who lived in Riyadh, Saudi Arabia, Burnichon et al. (2006) identified heterozygosity for an A-T transversion in exon 2 of the HBA2 gene, resulting in an asp75-to-val (D75V) substitution. The child had no hepatomegaly or splenomegaly. This was the sixth hemoglobin variant described at position 75 of the alpha-globin chain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0071 ALPHA-THALASSEMIA, HMONG TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, 1-BP DEL, 1A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776828,
|
|
|
|
|
|
|
|
ClinVar: RCV000016985, RCV001811173, RCV001826474
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Eng et al. (2006) studied a newborn male of Hmong descent who had an elevated level of Hb Bart (more than 25%) indicative of Hb H disease. Deletion-specific PCR demonstrated that he was heterozygous for the Southeast Asian alpha-0-thal deletion. PCR amplification and direct nucleotide sequence analysis of the intact alpha-globin gene cluster revealed a 1-bp deletion of adenine from the translation initiation codon (ATG) of the HBA2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0072 HEMOGLOBIN H HYDROPS FETALIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, 3-BP DEL, GLU30
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864560,
|
|
|
|
|
|
|
|
ClinVar: RCV000506938, RCV002275044
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with hemoglobin H hydrops fetalis (see 236750), Chan et al. (1997) detected a deletion of codon 30 (deltaGAG, glu) in the hemoglobin alpha-2 gene on one chromosome The other chromosome carried a large deletion that removed both alpha-globin genes and the zeta-globin (142310) gene. The mutant protein was apparently highly unstable since there was no detectable radioactive or protein peak upon in vitro globin chain synthesis. HbH was 2.5%, Hb Bart 31%, HbF 28%, and HbA 38.5%. In a review of the literature, Lorey et al. (2001) noted that this patient died minutes after birth at 39 weeks' gestation, with ascites, hepatomegaly, and placentomegaly present. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0073 HEMOGLOBIN H HYDROPS FETALIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, GLY59ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281864846,
|
|
|
|
|
|
|
|
ClinVar: RCV000507118, RCV001376060, RCV001678588, RCV003323574
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with hemoglobin H hydrops fetalis (see 236750), Chan et al. (1997) detected a gly59-to-asp (G59D) substitution on one allele of the HBA2 gene, resulting from a G-to-A transition. Both alpha-globin genes on the other chromosome were removed by the Southeast Asian deletion (Lorey et al., 2001). Fetal blood sampling at 28 weeks' gestation revealed Hb Bart of 39%, HbF 39%, and HbA 9%. An intrauterine transfusion was given at 29 weeks, and the patient was delivered by cesarean section at 34 weeks. The baby survived a turbulent neonatal period and was discharged at 3 months of age. He required monthly transfusions and at age 2 years had passed normal developmental milestones. Chan et al. (1997) noted that this same mutation had been reported in the HBA1 gene (Hb Adana; 141800.0174) and had been coinherited with an alpha-thalassemia-1 deletion on the other allele, resulting in hemoglobin H disease. Chan et al. (1997) suggested that the more severe phenotype in their patient had resulted from the missense mutation's occurrence in the HBA2 gene, which transcribes up to twice as much mRNA as the HBA1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0074 HEMOGLOBIN H HYDROPS FETALIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, SER35PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63750776,
|
|
|
|
|
|
|
|
ClinVar: RCV001284140, RCV001678591
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Filipino ancestry with hemoglobin H hydrops fetalis syndrome (see 236750), Lorey et al. (2001) detected a ser35-to-pro (S35P) substitution in the paternal allele of the HBA2 gene that had resulted from a T-to-C transition. The maternal chromosome carried the Filipino deletion removing the alpha-1 (141800), alpha-2, and zeta-globin (142310) genes. Clinical manifestations at birth by cesarean section at 34 weeks included pericardial effusion, fetal distress, jaundice, hepatosplenomegaly, ambiguous genitalia with fourth-degree hypospadias, and bilateral inguinal testes. He required 6 transfusions in the first 4 months of life; thereafter, hemoglobin levels stabilized. At 13 months of age developmental milestones were consistent with an estimated chronologic age of 10 months. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0075 HEMOGLOBIN DALLAS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HBA2, ASN97LYS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV001801079
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hemoglobin Dallas was first described by Dysert et al. (1982) as an asn97-to-lys (N97K) alpha-2 globin variant with high oxygen affinity. The variant was identified in a 22-year-old woman who, except for a mild erythrocytosis, was asymptomatic. Her mother and several other relatives were found to be affected.</p><p>Lendaro et al. (1992) showed that Hb Dallas has increased oxygen affinity, diminished cooperativity, and reduced Bohr effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Carver and Kutlar (1995); Derry et al. (1984); Higgs et al. (1983);
|
|
Lie-Injo et al. (1974); Liebhaber and Cash (1985); Milner et al.
|
|
(1971); Orkin et al. (1981); Patrinos et al. (2004)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
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|
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Aguinaga, M. P., Kutlar, F., Turner, E. A., Park, D.
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<strong>Hb Inkster (alpha-85(F6)asp-to-val) found in a Caucasian male with polycythemia.</strong>
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Hemoglobin 24: 333-339, 2000.
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Ahern, E., Ahern, V., Holder, W., Palomino, E., Serjeant, G. R., Serjeant, B. E., Forbes, M., Brimhall, B., Jones, R. T.
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<strong>Haemoglobin Spanish Town: alpha 27 glu-to-val (B8).</strong>
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Biochim. Biophys. Acta 427: 530-535, 1976.
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Atwater, J., Schwartz, I. R., Tocantins, L. M.
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<strong>A variety of human hemoglobin with four distinct electrophoretic components.</strong>
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<strong>Hb Toulon (alpha-77(EF6)pro-to-his): a new variant due to a mutation in the alpha-2 gene found during measurement of glycated hemoglobin.</strong>
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<strong>Trimodality in the proportion of hemoglobin G Philadelphia in heterozygotes: evidence for heterogeneity in the number of human alpha chain loci.</strong>
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<strong>The effects of alpha chain mutations cis and trans to the beta-6 mutation on the polymerization of sickle cell haemoglobin.</strong>
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<strong>Alteration in the alpha-chain of haemoglobin L Ferrara.</strong>
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Nature 198: 395-396, 1963.
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Bowden, D. K., Hill, A. V. S., Higgs, D. R., Oppenheimer, S. J., Weatherall, D. J., Clegg, J. B.
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<strong>Different hematologic phenotypes are associated with the leftward (minus-alpha-4.2) and rightward (minus-alpha-3.7) alpha-plus-thalassemia deletions.</strong>
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Bradley, T. B., Wehl, R. C., Smith, G. J.
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<strong>Elongation of the alpha globin chain in a black family: interaction with Hb G Philadelphia. (Abstract)</strong>
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Clin. Res. 23: 131A, 1975.
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<p class="mim-text-font">
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Brennan, S. O., Sheen, C., Johnson, S.
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<strong>Hb Manawatu (alpha-37(C2)pro-to-leu): a new mildly unstable mutation at an invariant proline residue.</strong>
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Hemoglobin 26: 389-392, 2002.
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[PubMed: 12484634]
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<strong>Structural characterizations of hemoglobins J-Buda (alpha 61 (E10) lys-to-asn) and G-Pest (alpha 74 (EF3) asp-to-asn).</strong>
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Brimhall, B., Hollan, S., Jones, R. T., Koler, R. D., Stocklen, Z., Szelenyi, J. G.
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<strong>Multiple alpha-chain loci for human hemoglobin. (Abstract)</strong>
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Brimhall, B., Jones, R. T., Schneider, R. G., Hosty, T. S., Tomlin, G., Atkins, R.
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<strong>Two new hemoglobins: hemoglobin Alabama beta 39 (C5) gln-to-lys and hemoglobin Montgomery alpha 48 (CD6) leu-to-arg.</strong>
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Biochim. Biophys. Acta 379: 28-32, 1975.
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[PubMed: 1115799]
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<strong>The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome.</strong>
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[PubMed: 6198906]
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<strong>Hemoglobin: Molecular, Genetic and Clinical Aspects.</strong>
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Philadelphia: W. B. Saunders (pub.) 1986. P. 408.
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Burnichon, N., Lacan, P., Becchi, M., Zanella-Cleon, I., Aubry, M., Mowafy, M., Couprie, N., Francina, A.
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<strong>A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha-75(EF4) asp-to-val (alpha-2)].</strong>
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Hemoglobin 30: 155-164, 2006.
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[PubMed: 16798639]
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<strong>A hemoglobin variant found during glycohemoglobin measurement, identified as Hb Toulon [alpha-77(EF6)pro-to-his] by tandem mass spectrometry.</strong>
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Hemoglobin 26: 197-199, 2002.
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[PubMed: 12144065]
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<strong>Hb Manitoba in a Taiwanese family: a C-to-A substitution at codon 102 of the alpha-2-globin gene.</strong>
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<strong>Hb G-Chinese: A G-to-C substitution at codon 30 of the alpha-2-globin gene creates a PstI cutting site.</strong>
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[PubMed: 11939521]
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[Full Text: https://doi.org/10.1081/hem-120002948]
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<p class="mim-text-font">
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<strong>Hemoglobin Hasharon (alpha-2 47 his(CD5)beta-2): a hemoglobin found in low concentration.</strong>
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[PubMed: 5780195]
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<p class="mim-text-font">
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<strong>The amino acid composition of hemoglobin. VI. Separation of the tryptic peptides of hemoglobin Knoxville no. 1 on Dowex-1 and Sephadex.</strong>
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[PubMed: 14289041]
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[Full Text: https://doi.org/10.1016/0304-4165(65)90268-0]
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<p class="mim-text-font">
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Clegg, J. B., Weatherall, D. J., Contopou-Griva, I., Caroutsos, K., Poungouras, P., Tsevrenis, H.
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<strong>Haemoglobin Icaria, a new chain-termination mutant which causes alpha-thalassaemia.</strong>
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Nature 251: 245-247, 1974.
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[PubMed: 4422784]
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[Full Text: https://doi.org/10.1038/251245a0]
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<p class="mim-text-font">
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Clegg, J. B., Weatherall, D. J., Milner, P. F.
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Nature 234: 337-340, 1971.
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[PubMed: 9886305]
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<strong>Hemoglobin Manitoba: alpha-102(G9)serine replaced by arginine.</strong>
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Dance, N., Huehns, E. R., Shooter, E. M.
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<strong>The chemical investigation of haemoglobins G Bristol and G Bristol-C.</strong>
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Biochim. Biophys. Acta 86: 144-148, 1964.
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[PubMed: 14166851]
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De Jong, W. W., Meera Khan, P., Bernini, L. F.
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<strong>Hemoglobin Koya Dora: high frequency of a chain termination mutant.</strong>
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De Jong, W. W. W., Bernini, L. F., Khan, P. M.
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<strong>Haemoglobin Rampa: alpha-95 pro-to-ser (BBA 35815).</strong>
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De Marco, E. V., Crescibene, L., Pasqua, A., Brancati, C., Bria, M., Qualtieri, A.
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<strong>Hb Prato [alpha31 (B12) arg-to-ser] in a Calabrian family.</strong>
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Hemoglobin 16: 275-279, 1992.
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<strong>Hb Natal or alpha(minus tyr-arg), a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC-to-TAA (tyr terminating codon) mutation in codon alpha 140.</strong>
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Biochim. Biophys. Acta 951: 36-41, 1988.
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[PubMed: 3191134]
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[Full Text: https://doi.org/10.1016/0167-4781(88)90022-x]
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<strong>Hemoglobin Boyle Heights: the first example of a deletion in the alpha chain. (Abstract)</strong>
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<strong>The first example of a deletion in the human alpha chain: hemoglobin Boyle Heights or alpha(2)6(A4) asp-to-0.</strong>
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Hemoglobin 7: 125-140, 1983.
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[PubMed: 6671902]
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[Full Text: https://doi.org/10.3109/03630268309048642]
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<strong>The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.</strong>
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<strong>Hb Anamosa or alpha(2)-111(G18)ala--val-beta(2) (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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<strong>Hb Sallanches [alpha-104(G11)cys-tyr]: a rare alpha-2-globin chain variant found in the homozygous state in three members of a Pakistani family.</strong>
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Hemoglobin 24: 31-35, 2000.
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[PubMed: 10722113]
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<strong>Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)val-to-gly] and Hb Barbizon [beta144(HC1)lys-to-met].</strong>
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Hemoglobin 23: 21-32, 1999.
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[PubMed: 10081983]
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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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<strong>Hemoglobin Constant Spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta121--gln) in a Batak Indonesian family.</strong>
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<strong>Hb Gerland (alpha-55(E4)val-to-ala (alpha-2)): a new neutral alpha-chain variant involving the alpha-2 gene.</strong>
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Hemoglobin 25: 417-420, 2001.
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[PubMed: 11791875]
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<strong>Two new alpha chain variants: Hb Part-Dieu [alpha-65(E14)ala-to-thr (alpha-2)] and Hb Decines-Charpieu [alpha-69(E18)ala-to-thr (alpha-2)].</strong>
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Hemoglobin 28: 51-57, 2004.
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[PubMed: 15008265]
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Lacan, P., Francina, A., Souillet, G., Aubry, M., Couprie, N., Dementhon, L., Becchi, M.
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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>Two new hemoglobin variants: Hb Brem-sur-Mer (beta-9(A6)ser-to-tyr) and Hb Passy (alpha-81(F2)ser-to-pro (alpha-2)).</strong>
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Hemoglobin 29: 69-75, 2005.
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[PubMed: 15768558]
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<strong>Hemoglobin Dallas (alpha 97(G4)Asn-Lys): functional characterization of a high oxygen affinity natural mutant.</strong>
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<strong>Detection of the Hb Quong Sze mutation in a Chinese family by selective amplification of the alpha-2-globin gene and restriction map analysis with Msp I.</strong>
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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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<strong>Homozygous state for Hb Constant Spring (slow moving Hb X components).</strong>
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<strong>A new abnormal human hemoglobin: Hb Prato (alpha31 arg-to-ser).</strong>
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<strong>A novel mutation of the alpha-2-globin causing alpha(+)-thalassemia: Hb Plasencia (alpha-125(H8)leu-to-arg (alpha-2)).</strong>
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Hemoglobin 25: 375-382, 2001.
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<strong>A new alpha chain variant, Hb Hanamaki or alpha(2)139(HC1)lys-to-glu-beta(2), found in a Japanese family.</strong>
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<strong>The Hb Tarrant (alpha-126(H9)asp-to-asn) mutation is localized in the alpha-2-globin gene.</strong>
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<strong>Hb Bibba or alpha(2)136(H19)leu-to-pro-beta(2) in a Caucasian family from Alabama.</strong>
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<strong>Nb Nikaia (alpha-20(B1)his-to-asp): a new variant of the alpha-2 gene.</strong>
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<strong>Hb Watts (alpha-74(EF3) or alpha-75(EF4)asp-to-0): A shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha-2-globin gene.</strong>
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<strong>Haemoglobin Inkster (alpha 85 aspartic acid to valine) coexisting with beta-thalassaemia in a Caucasian family.</strong>
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<strong>Hb Suan-Dok [alpha-109(G16)leu-to-arg; CTG-to-CGC (alpha-2)] described in a patient of African ancestry.</strong>
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Hemoglobin 16: 45-50, 1992.
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[PubMed: 1634361]
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[Full Text: https://doi.org/10.3109/03630269209005675]
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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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Wenning, M. R. S. C., Silva, N. M., Jorge, S. B., Kimura, E. M., Costa, F. F., Torsoni, M. A., Ogo, S. H., Sonati, M. F.
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<strong>Hb Campinas (alpha-26(B7)ala-to-val): a novel, electrophoretically silent, variant.</strong>
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Hemoglobin 24: 143-148, 2000.
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[PubMed: 10870886]
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[Full Text: https://doi.org/10.3109/03630260009003434]
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</p>
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</li>
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<p class="mim-text-font">
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Whitelaw, E., Proudfoot, N.
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<strong>Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3-prime end processing in the human alpha-2 globin gene.</strong>
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EMBO J. 5: 2915-2922, 1986.
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[PubMed: 3024968]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1986.tb04587.x]
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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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Wilson, J. B., Webber, B. B., Kutlar, A., Reese, A. L., McKie, V. C., Lutcher, C. L., Felice, A. E., Huisman, T. H. J.
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<strong>HB Evans or alpha-2 62 (E11) val-to-met: an unstable hemoglobin causing a mild hemolytic anemia.</strong>
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Hemoglobin 13: 557-566, 1989.
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[PubMed: 2606724]
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[Full Text: https://doi.org/10.3109/03630268908993106]
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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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Wilson, J. B., Webber, B. B., Plaseska, D., de Alarcon, P. A., McMillan, S. K., Huisman, T. H. J.
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<strong>Hb Davenport or alpha-2 78(EF7) asn-to-his.</strong>
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Hemoglobin 14: 599-605, 1990.
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[PubMed: 2101836]
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[Full Text: https://doi.org/10.3109/03630269009046968]
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</p>
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</li>
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<p class="mim-text-font">
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Yuregir, G. T., Aksoy, K., Curuk, M. A., Dikmen, N., Fei, Y.-J., Baysal, E., Huisman, T. H. J.
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<strong>Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.</strong>
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Brit. J. Haemat. 80: 527-532, 1992.
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[PubMed: 1581238]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1992.tb04568.x]
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</p>
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<li>
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<p class="mim-text-font">
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Zhao, W., Wilson, J. B., Huisman, T. H. J.
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<strong>Low quantities of Hb Boyle Heights or alpha-2 6 (A4) asp-to-del observed in three members of a Caucasian family.</strong>
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Hemoglobin 14: 637-640, 1990.
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[PubMed: 2101838]
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Contributors:
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</span>
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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<br>Anne M. Stumpf - updated : 7/25/2011<br>Victor A. McKusick - updated : 9/19/2006<br>Victor A. McKusick - updated : 3/29/2006<br>Victor A. McKusick - updated : 11/1/2005<br>Victor A. McKusick - updated : 10/11/2005<br>Victor A. McKusick - updated : 8/11/2005<br>Victor A. McKusick - updated : 6/30/2005<br>Victor A. McKusick - updated : 5/11/2005<br>Victor A. McKusick - updated : 3/3/2005<br>Victor A. McKusick - updated : 12/6/2004<br>Victor A. McKusick - updated : 12/3/2004<br>Victor A. McKusick - updated : 6/2/2004<br>Victor A. McKusick - updated : 9/2/2003<br>Victor A. McKusick - updated : 5/20/2003<br>Victor A. McKusick - updated : 5/13/2003<br>Victor A. McKusick - updated : 4/17/2003<br>Victor A. McKusick - updated : 3/5/2003<br>Victor A. McKusick - updated : 3/3/2003<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 9/16/2002<br>Victor A. McKusick - updated : 2/27/2002<br>Victor A. McKusick - updated : 11/6/2001<br>Victor A. McKusick - updated : 2/14/2001<br>Victor A. McKusick - updated : 9/15/2000<br>Victor A. McKusick - updated : 1/21/2000<br>Carol A. Bocchini - updated : 12/14/1999<br>Victor A. McKusick - updated : 12/8/1999<br>Victor A. McKusick - updated : 3/25/1999<br>Victor A. McKusick - updated : 2/2/1999<br>Victor A. McKusick - updated : 9/29/1997<br>Moyra Smith - updated : 4/6/1996
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</span>
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Victor A. McKusick : 6/4/1986
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