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<title>
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Entry
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- #300751 - ANEMIA, SIDEROBLASTIC, 1; SIDBA1
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- OMIM
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<span class="h4">#300751</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS300751"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ANEMIA, SIDEROBLASTIC) OR (ALAS2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=999&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sideroblastic anemia </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11087&Typ=Pat" title="X-linked sideroblastic anemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked sideroblastic ane… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8535" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia" 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=300751[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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sideroblastic anemia</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75563" title="X-linked sideroblastic anemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked sideroblastic ane…</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060063" 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="http://www.informatics.jax.org/disease/300751" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 48983004<br />
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<strong>ICD10CM:</strong> D64.0<br />
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<strong>ORPHA:</strong> 1047, 75563<br />
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<strong>DO:</strong> 0060063<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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300751
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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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ANEMIA, SIDEROBLASTIC, 1; SIDBA1
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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">
|
|
<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">
|
|
ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA<br />
|
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ANEMIA, HYPOCHROMIC; ANH1<br />
|
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ANEMIA, HEREDITARY SIDEROBLASTIC<br />
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HEREDITARY IRON-LOADING ANEMIA
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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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>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/342?start=-3&limit=10&highlight=342">
|
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Xp11.21
|
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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">
|
|
Anemia, sideroblastic, 1
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300751"> 300751 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
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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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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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ALAS2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/301300"> 301300 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300751" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS300751" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300751" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300751" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
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|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypochromic, microcytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44666001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44666001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271901&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271901</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004840</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004840</a>]</span><br /> -
|
|
Sideroblastic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41841004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41841004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001924" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001924</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001924" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001924</a>]</span><br /> -
|
|
Macrocytic anemia in manifesting females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677890</a>]</span><br /> -
|
|
Pathologic perinuclear mitochondrial iron deposits in erythrocyte precursors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677891</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Low hemoglobin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165397008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165397008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age at onset, from birth to ninth decade<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Female carriers may be affected<br /> -
|
|
May or may not be responsive to pyridoxine (vitamin B6) treatment<br /> -
|
|
Systemic iron overload due to ineffective erythropoiesis<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the delta-aminolevulinate synthase 2 gene (ALAS2, <a href="/entry/301300#0001">301300.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Anemia, sideroblastic
|
|
- <a href="/phenotypicSeries/PS300751">PS300751</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/191?start=-3&limit=10&highlight=191"> 3p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205950"> Anemia, sideroblastic, 2, pyridoxine-refractory </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because sideroblastic anemia-1 (SIDBA1) is caused by mutation in the gene encoding delta-aminolevulinate synthase-2 (ALAS2; <a href="/entry/301300">301300</a>) on chromosome Xp11.</p>
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<p>The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (<a href="#18" class="mim-tip-reference" title="Fleming, M. D. <strong>The genetics of inherited sideroblastic anemias.</strong> Semin. Hemat. 39: 270-281, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12382202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12382202</a>] [<a href="https://doi.org/10.1053/shem.2002.35637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12382202">Fleming, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12382202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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><strong><em>Genetic Heterogeneity of Sideroblastic Anemia</em></strong></p><p>
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See also SIDBA2 (<a href="/entry/205950">205950</a>), caused by mutation in the SLC25A38 gene (<a href="/entry/610819">610819</a>) on chromosome 3p22; SIDBA3 (<a href="/entry/616860">616860</a>), caused by mutation in the GLRX5 gene (<a href="/entry/609588">609588</a>) on chromosome 14q32; SIDBA4 (<a href="/entry/182170">182170</a>), caused by mutation in the HSPA9 gene (<a href="/entry/600548">600548</a>) on chromosome 5q31; and SIDBA5 (<a href="/entry/619523">619523</a>), caused by mutation in the HSCB gene (<a href="/entry/608142">608142</a>) on chromosome 22q12.</p>
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<p>X-linked sideroblastic anemia was first described by <a href="#11" class="mim-tip-reference" title="Cooley, T. B. <strong>A severe type of hereditary anemia with elliptocytosis: interesting sequence of splenectomy.</strong> Am. J. Med. Sci. 209: 561-568, 1945."None>Cooley (1945)</a>, a Detroit pediatrician-hematologist who also first described thalassemia in a definitive way. He pointed out possible X-linkage in a family in which 19 males in 5 generations were affected, with transmission through unaffected females.</p><p><a href="#32" class="mim-tip-reference" title="Rundles, R. W., Falls, H. F. <strong>Hereditary (sex-linked) anemia.</strong> Am. J. Med. Sci. 211: 641-658, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20992689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20992689</a>] [<a href="https://doi.org/10.1097/00000441-194606000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20992689">Rundles and Falls (1946)</a> reported 2 families, 1 of which was the same as that reported by Cooley. Somewhat enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. Pyridoxine responsiveness was demonstrated in at least 2 affected members of Rundles and Falls' family (<a href="#6" class="mim-tip-reference" title="Bishop, R. C., Bethell, F. H. <strong>Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine.</strong> New Eng. J. Med. 261: 486-489, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13801004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13801004</a>] [<a href="https://doi.org/10.1056/NEJM195909032611004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13801004">Bishop and Bethell, 1959</a>; <a href="#24" class="mim-tip-reference" title="Horrigan, D. L., Harris, J. W. <strong>Pyridoxine-responsive anemia: analysis of 62 cases.</strong> Adv. Intern. Med. 12: 103-174, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14268276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14268276</a>]" pmid="14268276">Horrigan and Harris, 1964</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13801004+14268276+20992689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#9" class="mim-tip-reference" title="Byrd, R. B., Cooper, T. <strong>Hereditary iron-loading anemia with secondary hemochromatosis.</strong> Ann. Intern. Med. 55: 103-123, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13689579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13689579</a>] [<a href="https://doi.org/10.7326/0003-4819-55-1-103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13689579">Byrd and Cooper (1961)</a> referred to the disorder as hereditary iron-loading anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13689579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#5" class="mim-tip-reference" title="Bickers, J. N., Brown, C. L., Sprague, C. C. <strong>Pyridoxine responsive anemia.</strong> Blood 19: 304-312, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13868972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13868972</a>]" pmid="13868972">Bickers et al. (1962)</a> described the disorder in a man whose mother, sister, and 5 children had hematologic involvement in various degrees. <a href="#27" class="mim-tip-reference" title="Losowsky, M. S., Hall, R. <strong>Hereditary sideroblastic anaemia.</strong> Brit. J. Haemat. 11: 70-85, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14247476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14247476</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1965.tb00086.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14247476">Losowsky and Hall (1965)</a> described a remarkably extensively affected family with a typical X-linked recessive inheritance pattern with clinical expression in some presumed heterozygous females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13868972+14247476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Associated hypolipidemia and hypocholesterolemia were pointed out by <a href="#35" class="mim-tip-reference" title="Spitzer, N., Newcomb, T. F., Noyes, W. D. <strong>Pyridoxine-responsive hypolipidemia and hypocholesterolemia in a patient with pyridoxine responsive anemia.</strong> New Eng. J. Med. 274: 772-775, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17926884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17926884</a>] [<a href="https://doi.org/10.1056/NEJM196604072741405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17926884">Spitzer et al. (1966)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17926884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#30" class="mim-tip-reference" title="Prasad, A. S., Tranchida, L., Konno, E. T., Berman, L., Albert, S., Sing, C. F., Brewer, G. J. <strong>Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family.</strong> J. Clin. Invest. 47: 1415-1424, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4871209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4871209</a>] [<a href="https://doi.org/10.1172/JCI105833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4871209">Prasad et al. (1968)</a> studied a black family segregating both sideroblastic anemia and G6PD deficiency (<a href="/entry/300908">300908</a>). In females doubly heterozygous in coupling, there was a correlation between small red cells and low G6PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4871209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#34" class="mim-tip-reference" title="Soslau, G., Brodsky, I. <strong>Hereditary sideroblastic anemia with associated platelet abnormalities.</strong> Am. J. Hemat. 32: 298-304, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2816925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2816925</a>] [<a href="https://doi.org/10.1002/ajh.2830320411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2816925">Soslau and Brodsky (1989)</a> described a 62-year-old male and his 30-year-old daughter with sideroblastic anemia. Both also had prolonged bleeding times with abnormalities of the platelets which appeared to represent a 'storage pool defect.' The sideroblastic anemia and the platelet abnormality may have been coincidentally associated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2816925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Pyridoxine deficiency is prevalent in patients undergoing dialysis (<a href="#25" class="mim-tip-reference" title="Kopple, J. D., Mercurio, K., Blumenkrantz, M. J., Jones, M. R., Tallos, J., Roberts, C., Card, B., Saltzman, R., Casciato, D. A., Swendseid, M. E. <strong>Daily requirement for pyridoxine supplements in chronic renal failure.</strong> Kidney Int. 19: 694-704, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7289398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7289398</a>] [<a href="https://doi.org/10.1038/ki.1981.69" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7289398">Kopple et al., 1981</a>). <a href="#19" class="mim-tip-reference" title="Furuyama, K., Harigae, H., Kinoshita, C., Shimada, T., Miyaoka, K., Kanda, C., Maruyama, Y., Shibahara, S., Sassa, S. <strong>Late-onset X-linked sideroblastic anemia following hemodialysis.</strong> Blood 101: 4623-4624, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12531813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12531813</a>] [<a href="https://doi.org/10.1182/blood-2002-09-2804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12531813">Furuyama et al. (2003)</a> reported an 81-year-old man who developed sideroblastic anemia while undergoing hemodialysis, The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, which were completely eliminated by treatment with oral pyridoxine. The very late onset in this case of XLSA emphasized that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway. Genetic analysis identified a mutation in the ALAS2 gene (D159N; <a href="/entry/301300#0012">301300.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7289398+12531813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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><strong><em>Heterozygous Females</em></strong></p><p>
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<a href="#28" class="mim-tip-reference" title="Peto, T. E. A., Pippard, M. J., Weatherall, D. J. <strong>Iron overload in mild sideroblastic anaemias.</strong> Lancet 321: 375-378, 1983. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6130377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6130377</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)91498-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6130377">Peto et al. (1983)</a> focused attention on iron overload in mild sideroblastic anemia after the death from cardiac iron loading of a middle-aged woman with a very mild form of familial sideroblastic anemia. Their studies demonstrated that iron overload can occur without severe anemia, most likely resulting from excessive absorption of dietary iron. Several additional patients had familial disease; mother and 2 sisters, mother and son, and 2 brothers were affected. None of the 5 patients tested showed linkage to the locus for hemochromatosis (<a href="/entry/235200">235200</a>). <a href="#28" class="mim-tip-reference" title="Peto, T. E. A., Pippard, M. J., Weatherall, D. J. <strong>Iron overload in mild sideroblastic anaemias.</strong> Lancet 321: 375-378, 1983. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6130377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6130377</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)91498-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6130377">Peto et al. (1983)</a> concluded that in heterozygous females 'even a minor population of hypochromic peripheral red cells may be important.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6130377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#13" class="mim-tip-reference" title="Cotter, P. D., May, A., Fitzsimons, E. J., Houston, T., Woodcock, B. E., Al-Sabah, A. I., Wong, L., Bishop, D. F. <strong>Late-onset X-linked sideroblastic anemia: missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.</strong> J. Clin. Invest. 96: 2090-2096, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7560104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7560104</a>] [<a href="https://doi.org/10.1172/JCI118258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7560104">Cotter et al. (1995)</a> described a previously unaffected 81-year-old woman in whom microcytic sideroblastic anemia developed. The initial diagnosis was myelodysplastic syndrome, but the recognition of the X-linked congenital sideroblastic anemia allowed successful treatment with pyridoxine. She was found to be heterozygous for a point mutation of the ALAS2 gene (<a href="/entry/301300#0005">301300.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7560104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>There is evidence from other sources that skewed lyonization can be an acquired pattern. In the study of peripheral blood leukocytes by <a href="#8" class="mim-tip-reference" title="Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M., Gilliland, D. G. <strong>Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.</strong> Blood 88: 59-65, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8704202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8704202</a>]" pmid="8704202">Busque et al. (1996)</a>, the incidence of skewing was 1.9% in neonates, 4.5% in women who were 28 to 32 years old, and 22.7% in women who were 60 years of age or older. <a href="#10" class="mim-tip-reference" title="Cazzola, M., Bergamaschi, G. <strong>X-linked Wiskott-Aldrich syndrome in a girl. (Letter)</strong> New Eng. J. Med. 338: 1850 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634367</a>] [<a href="https://doi.org/10.1056/NEJM199806183382515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9634367">Cazzola and Bergamaschi (1998)</a> estimated that in 30 to 40% of elderly women, hematopoietic cells (erythroid cells, granulocytic cells, monocytes, and megakaryocytes) have more than 90% expression of 1 parental X chromosome. <a href="#31" class="mim-tip-reference" title="Puck, J. M., Willard, H. F. <strong>X inactivation in females with X-linked disease.</strong> New Eng. J. Med. 338: 325-327, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445416</a>] [<a href="https://doi.org/10.1056/NEJM199801293380611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9445416">Puck and Willard (1998)</a> reviewed mechanisms for a skewed pattern of X inactivation with a diagram of 3 different mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9634367+9445416+8704202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Aivado, M., Gattermann, N., Rong, A., Giagounidis, A. A. N., Prall, W. C., Czibere, A., Hildebrandt, B., Haas, R., Bottomley, S. S. <strong>X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.</strong> Blood Cells Mol. Dis. 37: 40-45, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16735131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16735131</a>] [<a href="https://doi.org/10.1016/j.bcmd.2006.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16735131">Aivado et al. (2006)</a> reported a family in which a mother and her 2 daughters had pyridoxine-unresponsive sideroblastic anemia confirmed by genetic analysis. The disorder was variable in severity and X-chromosome inactivation studies were done. The mother developed progressive anemia in the fifth decade as she acquired an age-related nonrandom X-inactivation in hematopoietic cells. One daughter, with a mild phenotype at age 31, had moderate constitutive skewing of X-chromosome inactivation, and the other daughter, who was severely affected with clinical onset at age 16, had extreme constitutive skewing of X inactivation. There was also random X inactivation in reticulocytes of all 3 women that contrasted with a markedly skewed inactivation pattern in bone marrow erythroid cells. This discordance was attributed to apoptosis of erythroid precursors derived from progenitor cells with an active X-chromosome bearing the ALAS2 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16735131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#29" class="mim-tip-reference" title="Pinkerton, P. H. <strong>X-linked hypochromic anaemia. (Letter)</strong> Lancet 289: 1106-1107, 1967. Note: Originally Volume I."None>Pinkerton (1967)</a> observed 2 morphologically distinct populations of cells in heterozygotes. In a heterozygote, <a href="#26" class="mim-tip-reference" title="Lee, G. R., MacDiarmid, W. D., Cartwright, G. E., Wintrobe, M. M. <strong>Hereditary, X-linked, sideroachrestic anemia: the isolation of two erythrocyte populations differing in Xg(A) blood type and porphyrin content.</strong> Blood 32: 59-70, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5658391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5658391</a>]" pmid="5658391">Lee et al. (1968)</a> separated 2 populations of red cells by centrifugation in layered gum acacia solutions of different specific gravity. They found that the microcytes had a lower level of free protoporphyrin than did the normal cells, but unimpaired capacity to convert delta-aminolevulinic acid to protoporphyrin, suggesting a defect at or before the step in which delta-aminolevulinic acid is synthesized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5658391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#22" class="mim-tip-reference" title="Hines, J. D. <strong>Quantitative assessment of blood and tissue pyridoxal phosphokinase concentration in patients with vitamin B6-dependent states. (Abstract)</strong> J. Clin. Invest. 50: 45A, 1971."None>Hines (1971)</a> observed decreased levels of pyridoxal phosphokinase in red cells and livers of patients with pyridoxine-dependent refractory sideroblastic anemia.</p><p><a href="#3" class="mim-tip-reference" title="Aoki, Y., Urata, G., Takaku, F. <strong>Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.</strong> Acta Haemat. Jpn. 36: 74-77, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4738994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4738994</a>]" pmid="4738994">Aoki et al. (1973)</a> found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia, some of whom were males with congenital anemia which in some responded to treatment with B6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4738994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#2" class="mim-tip-reference" title="Aoki, Y., Muranaka, S., Nakabayashi, K., Ueda, Y. <strong>Delta-aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia: hypercatabolism caused by the increased susceptibility to the controlling protease.</strong> J. Clin. Invest. 64: 1196-1203, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/500806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">500806</a>] [<a href="https://doi.org/10.1172/JCI109573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="500806">Aoki et al. (1979)</a> found an apparent increase in proteolytic sensitivity of erythroblast ALAS in 2 patients with pyridoxine-responsive anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=500806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>Paradoxically, phlebotomy is effective treatment for this form of anemia and can be done especially when there is a satisfactory response to pyridoxine. As in genetic hemochromatosis, the main objective is to prevent the development of diabetes, cirrhosis, and heart failure from iron overload. Phlebotomy must be done with more caution than in genetic hemochromatosis. <a href="#28" class="mim-tip-reference" title="Peto, T. E. A., Pippard, M. J., Weatherall, D. J. <strong>Iron overload in mild sideroblastic anaemias.</strong> Lancet 321: 375-378, 1983. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6130377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6130377</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)91498-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6130377">Peto et al. (1983)</a> noted that measures of erythroid expansion are useful in assessing risk of iron overload, and phlebotomy or iron-chelation therapy is indicated for prophylaxis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6130377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Gonzalez, M. I., Caballero, D., Vazquez, L., Canizo, C., Hernandez, R., Lopez, C., Izarra, A., Arroyo, J. L., Gonzalez, M., Garcia, R. <strong>San Miguel, J. F.: Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia.</strong> Brit. J. Haemat. 109: 658-660, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10886220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10886220</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.02050.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10886220">Gonzalez et al. (2000)</a> reported a case of pyridoxine refractory hereditary sideroblastic anemia in a 19-year-old man who underwent peripheral blood stem cell transplantation from his HLA-identical brother. By using short tandem repeat polymorphism, 100% donor cells were observed in peripheral blood on day +21; bone marrow showed mixed chimerism from day +21 to day +221, when 100% cells of donor origin were observed. The patient developed extensive chronic graft-versus-host disease (GVHD; see <a href="/entry/614395">614395</a>) with favorable response to treatment. When the hemoglobin range was normal, a program of phlebotomies reduced serum ferritin levels. Three years after transplantation, the patient had completely normal hemoglobin values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10886220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>In a male with a pyridoxine-responsive form of X-linked sideroblastic anemia, <a href="#12" class="mim-tip-reference" title="Cotter, P. D., Baumann, M., Bishop, D. F. <strong>Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.</strong> Proc. Nat. Acad. Sci. 89: 4028-4032, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570328</a>] [<a href="https://doi.org/10.1073/pnas.89.9.4028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1570328">Cotter et al. (1992)</a> identified a causative mutation in the ALAS2 gene (<a href="/entry/301300#0001">301300.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 affected members of the original family with X-linked sideroblastic anemia described by <a href="#11" class="mim-tip-reference" title="Cooley, T. B. <strong>A severe type of hereditary anemia with elliptocytosis: interesting sequence of splenectomy.</strong> Am. J. Med. Sci. 209: 561-568, 1945."None>Cooley (1945)</a>, <a href="#15" class="mim-tip-reference" title="Cotter, P. D., Rucknagel, D. L., Bishop, D. F. <strong>X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.</strong> Blood 84: 3915-3924, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949148</a>]" pmid="7949148">Cotter et al. (1994)</a> identified a missense mutation in the ALAS2 gene (<a href="/entry/301300#0003">301300.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7949148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 each of 4 unrelated males with X-linked sideroblastic anemia, <a href="#14" class="mim-tip-reference" title="Cotter, P. D., May, A., Li, L., Al-Sabah, A. I., Fitzsimons, E. J., Cazzola, M., Bishop, D. F. <strong>Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.</strong> Blood 93: 1757-1769, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029606</a>]" pmid="10029606">Cotter et al. (1999)</a> identified mutations in the ALAS2 gene (see, e.g., <a href="/entry/301300#0008">301300.0008</a>). All probands were clinically pyridoxine-responsive. One mutation was found to be the first de novo XLSA mutation, having occurred in a gamete of the proband's maternal grandfather. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>In 18 unrelated XLSA hemizygotes, <a href="#14" class="mim-tip-reference" title="Cotter, P. D., May, A., Li, L., Al-Sabah, A. I., Fitzsimons, E. J., Cazzola, M., Bishop, D. F. <strong>Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.</strong> Blood 93: 1757-1769, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029606</a>]" pmid="10029606">Cotter et al. (1999)</a> found a significantly higher frequency of coinheritance of the hereditary hemochromatosis HFE mutant allele C282Y (<a href="/entry/613609#0001">613609.0001</a>) than found in the normal population. One proband with the Y199H mutation (<a href="/entry/301300#0017">301300.0017</a>) with severe and early iron loading was homozygous for C282Y. The clinical and hematologic histories of 2 XLSA probands suggested that iron overload suppresses pyridoxine responsiveness. Reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation (<a href="/entry/301300#0018">301300.0018</a>) was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicated the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>The zebrafish mutant 'sauternes' (sau) has a microcytic, hypochromic anemia. During embryogenesis, sau mutants have delayed erythroid maturation and abnormal globin gene expression. Using positional cloning techniques, <a href="#7" class="mim-tip-reference" title="Brownlie, A., Donovan, A., Pratt, S. J., Paw, B. H., Oates, A. C., Brugnara, C., Witkowska, H. E., Sassa, S., Zon, L. I. <strong>Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia.</strong> Nature Genet. 20: 244-250, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806542</a>] [<a href="https://doi.org/10.1038/3049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806542">Brownlie et al. (1998)</a> showed that sau encodes the erythroid-specific isoform of delta-aminolevulinate synthase, the enzyme required for the first step in heme biosynthesis. As mutations in ALAS2 cause congenital sideroblastic anemia in humans, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#36" class="mim-tip-reference" title="Weatherall, D. J., Pembrey, M. E., Hall, E. G., Sanger, R., Tippett, P., Gavin, J. <strong>Familial sideroblastic anaemia: problem of Xg and X chromosomes inactivation.</strong> Lancet 296: 744-748, 1970. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4195979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4195979</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)90221-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4195979">Weatherall et al. (1970)</a> were unable to demonstrate lyonization of the Xg locus (<a href="/entry/314700">314700</a>) by observing 2 populations of cells in females heterozygous for familial sideroblastic anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4195979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Several reports (see <a href="#33" class="mim-tip-reference" title="Sessarego, M., Bianchi Scarra, G., Giuntini, P., Ajmar, F. <strong>On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia.</strong> Acta Haemat. 70: 134-136, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6408876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6408876</a>] [<a href="https://doi.org/10.1159/000206707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6408876">Sessarego et al., 1983</a>) suggested a connection between chromosomal rearrangement involving a breakpoint at Xp13 and the development of idiopathic acquired sideroblastic anemia progressing to acute nonlymphocytic leukemia. <a href="#23" class="mim-tip-reference" title="Holmes, J., May, A., Geddes, D., Jacobs, A. <strong>A family study of congenital X linked sideroblastic anaemia.</strong> J. Med. Genet. 27: 26-28, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2308152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2308152</a>] [<a href="https://doi.org/10.1136/jmg.27.1.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2308152">Holmes et al. (1990)</a> found no consistent cytogenetic abnormalities in X-linked sideroblastic anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6408876+2308152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Benoff1978" class="mim-tip-reference" title="Benoff, S., Bruce, S. A., Skoultchi, A. I. <strong>Negative control of hemoglobin production in somatic cell hybrids due to heme deficiency.</strong> Proc. Nat. Acad. Sci. 75: 4354-4358, 1978.">Benoff et al. (1978)</a>; <a href="#Dewald1982" class="mim-tip-reference" title="Dewald, G. W., Pierre, R. V., Phyliky, R. L. <strong>Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia.</strong> Blood 59: 100-105, 1982.">Dewald et al. (1982)</a>; <a href="#Elves1966" class="mim-tip-reference" title="Elves, M. W., Bourne, M. S., Israels, M. C. G. <strong>Pyridoxine-responsive anaemia determined by an X-linked gene.</strong> J. Med. Genet. 3: 1-4, 1966.">Elves et al. (1966)</a>; <a href="#Harris1964" class="mim-tip-reference" title="Harris, J. W., Horrigan, D. L. <strong>Pyridoxine-responsive anemia-prototype and variations of the theme.</strong> Vitam. Horm 22: 721-753, 1964.">Harris and Horrigan (1964)</a>
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Aivado, M., Gattermann, N., Rong, A., Giagounidis, A. A. N., Prall, W. C., Czibere, A., Hildebrandt, B., Haas, R., Bottomley, S. S.
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<strong>X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.</strong>
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Blood Cells Mol. Dis. 37: 40-45, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16735131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16735131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16735131" target="_blank" onclick="gtag('event', '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/j.bcmd.2006.04.003" target="_blank">Full Text</a>]
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Aoki, Y., Muranaka, S., Nakabayashi, K., Ueda, Y.
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<strong>Delta-aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia: hypercatabolism caused by the increased susceptibility to the controlling protease.</strong>
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J. Clin. Invest. 64: 1196-1203, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/500806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">500806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=500806" target="_blank" onclick="gtag('event', '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/JCI109573" target="_blank">Full Text</a>]
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Aoki, Y., Urata, G., Takaku, F.
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<strong>Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.</strong>
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Acta Haemat. Jpn. 36: 74-77, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4738994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4738994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4738994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Benoff, S., Bruce, S. A., Skoultchi, A. I.
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<strong>Negative control of hemoglobin production in somatic cell hybrids due to heme deficiency.</strong>
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Proc. Nat. Acad. Sci. 75: 4354-4358, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/279921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">279921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=279921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.75.9.4354" target="_blank">Full Text</a>]
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Bickers, J. N., Brown, C. L., Sprague, C. C.
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<strong>Pyridoxine responsive anemia.</strong>
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Blood 19: 304-312, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13868972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13868972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13868972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bishop, R. C., Bethell, F. H.
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<strong>Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine.</strong>
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New Eng. J. Med. 261: 486-489, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13801004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13801004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13801004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM195909032611004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199806183382515" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.89.9.4028" target="_blank">Full Text</a>]
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Lee1968" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Lee, G. R., MacDiarmid, W. D., Cartwright, G. E., Wintrobe, M. M.
|
|
<strong>Hereditary, X-linked, sideroachrestic anemia: the isolation of two erythrocyte populations differing in Xg(A) blood type and porphyrin content.</strong>
|
|
Blood 32: 59-70, 1968.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5658391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5658391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5658391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Losowsky1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Losowsky, M. S., Hall, R.
|
|
<strong>Hereditary sideroblastic anaemia.</strong>
|
|
Brit. J. Haemat. 11: 70-85, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14247476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14247476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14247476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1965.tb00086.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Peto1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Peto, T. E. A., Pippard, M. J., Weatherall, D. J.
|
|
<strong>Iron overload in mild sideroblastic anaemias.</strong>
|
|
Lancet 321: 375-378, 1983. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6130377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6130377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6130377" target="_blank" onclick="gtag('event', '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(83)91498-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Pinkerton1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pinkerton, P. H.
|
|
<strong>X-linked hypochromic anaemia. (Letter)</strong>
|
|
Lancet 289: 1106-1107, 1967. Note: Originally Volume I.
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Prasad1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Prasad, A. S., Tranchida, L., Konno, E. T., Berman, L., Albert, S., Sing, C. F., Brewer, G. J.
|
|
<strong>Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family.</strong>
|
|
J. Clin. Invest. 47: 1415-1424, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4871209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4871209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4871209" target="_blank" onclick="gtag('event', '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/JCI105833" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
|
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<a id="Puck1998" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Puck, J. M., Willard, H. F.
|
|
<strong>X inactivation in females with X-linked disease.</strong>
|
|
New Eng. J. Med. 338: 325-327, 1998.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9445416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199801293380611" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
|
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<a id="Rundles1946" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Rundles, R. W., Falls, H. F.
|
|
<strong>Hereditary (sex-linked) anemia.</strong>
|
|
Am. J. Med. Sci. 211: 641-658, 1946.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20992689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20992689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20992689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1097/00000441-194606000-00001" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Sessarego1983" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Sessarego, M., Bianchi Scarra, G., Giuntini, P., Ajmar, F.
|
|
<strong>On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia.</strong>
|
|
Acta Haemat. 70: 134-136, 1983.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6408876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6408876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6408876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000206707" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Soslau1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Soslau, G., Brodsky, I.
|
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<strong>Hereditary sideroblastic anemia with associated platelet abnormalities.</strong>
|
|
Am. J. Hemat. 32: 298-304, 1989.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2816925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2816925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2816925" target="_blank" onclick="gtag('event', '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.2830320411" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Spitzer1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spitzer, N., Newcomb, T. F., Noyes, W. D.
|
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<strong>Pyridoxine-responsive hypolipidemia and hypocholesterolemia in a patient with pyridoxine responsive anemia.</strong>
|
|
New Eng. J. Med. 274: 772-775, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17926884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17926884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17926884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM196604072741405" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Weatherall1970" 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., Pembrey, M. E., Hall, E. G., Sanger, R., Tippett, P., Gavin, J.
|
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<strong>Familial sideroblastic anaemia: problem of Xg and X chromosomes inactivation.</strong>
|
|
Lancet 296: 744-748, 1970. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4195979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4195979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4195979" target="_blank" onclick="gtag('event', '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(70)90221-7" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/2/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Carol A. Bocchini : 11/3/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/01/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/17/2021<br>ckniffin : 09/16/2021<br>carol : 03/22/2016<br>carol : 3/18/2016<br>carol : 3/17/2016<br>ckniffin : 3/16/2016<br>carol : 5/29/2015<br>carol : 10/24/2013<br>mgross : 12/16/2011<br>terry : 4/28/2011<br>carol : 10/21/2010<br>terry : 4/13/2009<br>terry : 3/27/2009<br>carol : 12/8/2008<br>ckniffin : 12/2/2008<br>carol : 11/4/2008<br>carol : 11/4/2008
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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> 300751
|
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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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ANEMIA, SIDEROBLASTIC, 1; SIDBA1
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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">
|
|
ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA<br />
|
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ANEMIA, HYPOCHROMIC; ANH1<br />
|
|
ANEMIA, HEREDITARY SIDEROBLASTIC<br />
|
|
HEREDITARY IRON-LOADING ANEMIA
|
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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>SNOMEDCT:</strong> 48983004;
|
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|
|
<strong>ICD10CM:</strong> D64.0;
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<strong>ORPHA:</strong> 1047, 75563;
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<strong>DO:</strong> 0060063;
|
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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>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Xp11.21
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Anemia, sideroblastic, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300751
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ALAS2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
301300
|
|
</span>
|
|
</td>
|
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</tr>
|
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|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because sideroblastic anemia-1 (SIDBA1) is caused by mutation in the gene encoding delta-aminolevulinate synthase-2 (ALAS2; 301300) on chromosome Xp11.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (Fleming, 2002). </p><p><strong><em>Genetic Heterogeneity of Sideroblastic Anemia</em></strong></p><p>
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See also SIDBA2 (205950), caused by mutation in the SLC25A38 gene (610819) on chromosome 3p22; SIDBA3 (616860), caused by mutation in the GLRX5 gene (609588) on chromosome 14q32; SIDBA4 (182170), caused by mutation in the HSPA9 gene (600548) on chromosome 5q31; and SIDBA5 (619523), caused by mutation in the HSCB gene (608142) on chromosome 22q12.</p>
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<strong>Clinical Features</strong>
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<p>X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician-hematologist who also first described thalassemia in a definitive way. He pointed out possible X-linkage in a family in which 19 males in 5 generations were affected, with transmission through unaffected females.</p><p>Rundles and Falls (1946) reported 2 families, 1 of which was the same as that reported by Cooley. Somewhat enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. Pyridoxine responsiveness was demonstrated in at least 2 affected members of Rundles and Falls' family (Bishop and Bethell, 1959; Horrigan and Harris, 1964). </p><p>Byrd and Cooper (1961) referred to the disorder as hereditary iron-loading anemia. </p><p>Bickers et al. (1962) described the disorder in a man whose mother, sister, and 5 children had hematologic involvement in various degrees. Losowsky and Hall (1965) described a remarkably extensively affected family with a typical X-linked recessive inheritance pattern with clinical expression in some presumed heterozygous females. </p><p>Associated hypolipidemia and hypocholesterolemia were pointed out by Spitzer et al. (1966). </p><p>Prasad et al. (1968) studied a black family segregating both sideroblastic anemia and G6PD deficiency (300908). In females doubly heterozygous in coupling, there was a correlation between small red cells and low G6PD. </p><p>Soslau and Brodsky (1989) described a 62-year-old male and his 30-year-old daughter with sideroblastic anemia. Both also had prolonged bleeding times with abnormalities of the platelets which appeared to represent a 'storage pool defect.' The sideroblastic anemia and the platelet abnormality may have been coincidentally associated. </p><p>Pyridoxine deficiency is prevalent in patients undergoing dialysis (Kopple et al., 1981). Furuyama et al. (2003) reported an 81-year-old man who developed sideroblastic anemia while undergoing hemodialysis, The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, which were completely eliminated by treatment with oral pyridoxine. The very late onset in this case of XLSA emphasized that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway. Genetic analysis identified a mutation in the ALAS2 gene (D159N; 301300.0012). </p><p><strong><em>Heterozygous Females</em></strong></p><p>
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Peto et al. (1983) focused attention on iron overload in mild sideroblastic anemia after the death from cardiac iron loading of a middle-aged woman with a very mild form of familial sideroblastic anemia. Their studies demonstrated that iron overload can occur without severe anemia, most likely resulting from excessive absorption of dietary iron. Several additional patients had familial disease; mother and 2 sisters, mother and son, and 2 brothers were affected. None of the 5 patients tested showed linkage to the locus for hemochromatosis (235200). Peto et al. (1983) concluded that in heterozygous females 'even a minor population of hypochromic peripheral red cells may be important.' </p><p>Cotter et al. (1995) described a previously unaffected 81-year-old woman in whom microcytic sideroblastic anemia developed. The initial diagnosis was myelodysplastic syndrome, but the recognition of the X-linked congenital sideroblastic anemia allowed successful treatment with pyridoxine. She was found to be heterozygous for a point mutation of the ALAS2 gene (301300.0005). </p><p>There is evidence from other sources that skewed lyonization can be an acquired pattern. In the study of peripheral blood leukocytes by Busque et al. (1996), the incidence of skewing was 1.9% in neonates, 4.5% in women who were 28 to 32 years old, and 22.7% in women who were 60 years of age or older. Cazzola and Bergamaschi (1998) estimated that in 30 to 40% of elderly women, hematopoietic cells (erythroid cells, granulocytic cells, monocytes, and megakaryocytes) have more than 90% expression of 1 parental X chromosome. Puck and Willard (1998) reviewed mechanisms for a skewed pattern of X inactivation with a diagram of 3 different mechanisms. </p><p>Aivado et al. (2006) reported a family in which a mother and her 2 daughters had pyridoxine-unresponsive sideroblastic anemia confirmed by genetic analysis. The disorder was variable in severity and X-chromosome inactivation studies were done. The mother developed progressive anemia in the fifth decade as she acquired an age-related nonrandom X-inactivation in hematopoietic cells. One daughter, with a mild phenotype at age 31, had moderate constitutive skewing of X-chromosome inactivation, and the other daughter, who was severely affected with clinical onset at age 16, had extreme constitutive skewing of X inactivation. There was also random X inactivation in reticulocytes of all 3 women that contrasted with a markedly skewed inactivation pattern in bone marrow erythroid cells. This discordance was attributed to apoptosis of erythroid precursors derived from progenitor cells with an active X-chromosome bearing the ALAS2 mutation. </p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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<span class="mim-text-font">
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<p>Pinkerton (1967) observed 2 morphologically distinct populations of cells in heterozygotes. In a heterozygote, Lee et al. (1968) separated 2 populations of red cells by centrifugation in layered gum acacia solutions of different specific gravity. They found that the microcytes had a lower level of free protoporphyrin than did the normal cells, but unimpaired capacity to convert delta-aminolevulinic acid to protoporphyrin, suggesting a defect at or before the step in which delta-aminolevulinic acid is synthesized. </p><p>Hines (1971) observed decreased levels of pyridoxal phosphokinase in red cells and livers of patients with pyridoxine-dependent refractory sideroblastic anemia.</p><p>Aoki et al. (1973) found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia, some of whom were males with congenital anemia which in some responded to treatment with B6. </p><p>Aoki et al. (1979) found an apparent increase in proteolytic sensitivity of erythroblast ALAS in 2 patients with pyridoxine-responsive anemia. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<p>Paradoxically, phlebotomy is effective treatment for this form of anemia and can be done especially when there is a satisfactory response to pyridoxine. As in genetic hemochromatosis, the main objective is to prevent the development of diabetes, cirrhosis, and heart failure from iron overload. Phlebotomy must be done with more caution than in genetic hemochromatosis. Peto et al. (1983) noted that measures of erythroid expansion are useful in assessing risk of iron overload, and phlebotomy or iron-chelation therapy is indicated for prophylaxis. </p><p>Gonzalez et al. (2000) reported a case of pyridoxine refractory hereditary sideroblastic anemia in a 19-year-old man who underwent peripheral blood stem cell transplantation from his HLA-identical brother. By using short tandem repeat polymorphism, 100% donor cells were observed in peripheral blood on day +21; bone marrow showed mixed chimerism from day +21 to day +221, when 100% cells of donor origin were observed. The patient developed extensive chronic graft-versus-host disease (GVHD; see 614395) with favorable response to treatment. When the hemoglobin range was normal, a program of phlebotomies reduced serum ferritin levels. Three years after transplantation, the patient had completely normal hemoglobin values. </p>
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</span>
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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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</h4>
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<span class="mim-text-font">
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<p>In a male with a pyridoxine-responsive form of X-linked sideroblastic anemia, Cotter et al. (1992) identified a causative mutation in the ALAS2 gene (301300.0001). </p><p>In affected members of the original family with X-linked sideroblastic anemia described by Cooley (1945), Cotter et al. (1994) identified a missense mutation in the ALAS2 gene (301300.0003). </p><p>In each of 4 unrelated males with X-linked sideroblastic anemia, Cotter et al. (1999) identified mutations in the ALAS2 gene (see, e.g., 301300.0008). All probands were clinically pyridoxine-responsive. One mutation was found to be the first de novo XLSA mutation, having occurred in a gamete of the proband's maternal grandfather. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</h4>
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<span class="mim-text-font">
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<p>In 18 unrelated XLSA hemizygotes, Cotter et al. (1999) found a significantly higher frequency of coinheritance of the hereditary hemochromatosis HFE mutant allele C282Y (613609.0001) than found in the normal population. One proband with the Y199H mutation (301300.0017) with severe and early iron loading was homozygous for C282Y. The clinical and hematologic histories of 2 XLSA probands suggested that iron overload suppresses pyridoxine responsiveness. Reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation (301300.0018) was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicated the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The zebrafish mutant 'sauternes' (sau) has a microcytic, hypochromic anemia. During embryogenesis, sau mutants have delayed erythroid maturation and abnormal globin gene expression. Using positional cloning techniques, Brownlie et al. (1998) showed that sau encodes the erythroid-specific isoform of delta-aminolevulinate synthase, the enzyme required for the first step in heme biosynthesis. As mutations in ALAS2 cause congenital sideroblastic anemia in humans, </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>Weatherall et al. (1970) were unable to demonstrate lyonization of the Xg locus (314700) by observing 2 populations of cells in females heterozygous for familial sideroblastic anemia. </p><p>Several reports (see Sessarego et al., 1983) suggested a connection between chromosomal rearrangement involving a breakpoint at Xp13 and the development of idiopathic acquired sideroblastic anemia progressing to acute nonlymphocytic leukemia. Holmes et al. (1990) found no consistent cytogenetic abnormalities in X-linked sideroblastic anemia. </p>
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</span>
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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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Benoff et al. (1978); Dewald et al. (1982); Elves et al. (1966);
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Harris and Horrigan (1964)
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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>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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<li>
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<p class="mim-text-font">
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Aivado, M., Gattermann, N., Rong, A., Giagounidis, A. A. N., Prall, W. C., Czibere, A., Hildebrandt, B., Haas, R., Bottomley, S. S.
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<strong>X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.</strong>
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Blood Cells Mol. Dis. 37: 40-45, 2006.
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[PubMed: 16735131]
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[Full Text: https://doi.org/10.1016/j.bcmd.2006.04.003]
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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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Aoki, Y., Muranaka, S., Nakabayashi, K., Ueda, Y.
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<strong>Delta-aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia: hypercatabolism caused by the increased susceptibility to the controlling protease.</strong>
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J. Clin. Invest. 64: 1196-1203, 1979.
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[PubMed: 500806]
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[Full Text: https://doi.org/10.1172/JCI109573]
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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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Aoki, Y., Urata, G., Takaku, F.
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<strong>Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.</strong>
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Acta Haemat. Jpn. 36: 74-77, 1973.
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[PubMed: 4738994]
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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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Benoff, S., Bruce, S. A., Skoultchi, A. I.
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<strong>Negative control of hemoglobin production in somatic cell hybrids due to heme deficiency.</strong>
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Proc. Nat. Acad. Sci. 75: 4354-4358, 1978.
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[PubMed: 279921]
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[Full Text: https://doi.org/10.1073/pnas.75.9.4354]
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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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Bickers, J. N., Brown, C. L., Sprague, C. C.
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<strong>Pyridoxine responsive anemia.</strong>
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Blood 19: 304-312, 1962.
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[PubMed: 13868972]
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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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Bishop, R. C., Bethell, F. H.
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<strong>Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine.</strong>
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New Eng. J. Med. 261: 486-489, 1959.
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[PubMed: 13801004]
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[Full Text: https://doi.org/10.1056/NEJM195909032611004]
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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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Brownlie, A., Donovan, A., Pratt, S. J., Paw, B. H., Oates, A. C., Brugnara, C., Witkowska, H. E., Sassa, S., Zon, L. I.
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<strong>Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia.</strong>
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Nature Genet. 20: 244-250, 1998.
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[PubMed: 9806542]
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[Full Text: https://doi.org/10.1038/3049]
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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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Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M., Gilliland, D. G.
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<strong>Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.</strong>
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Blood 88: 59-65, 1996.
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[PubMed: 8704202]
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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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Byrd, R. B., Cooper, T.
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<strong>Hereditary iron-loading anemia with secondary hemochromatosis.</strong>
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Ann. Intern. Med. 55: 103-123, 1961.
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[PubMed: 13689579]
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[Full Text: https://doi.org/10.7326/0003-4819-55-1-103]
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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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Cazzola, M., Bergamaschi, G.
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<strong>X-linked Wiskott-Aldrich syndrome in a girl. (Letter)</strong>
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New Eng. J. Med. 338: 1850 only, 1998.
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[PubMed: 9634367]
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[Full Text: https://doi.org/10.1056/NEJM199806183382515]
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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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Cooley, T. B.
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<strong>A severe type of hereditary anemia with elliptocytosis: interesting sequence of splenectomy.</strong>
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Am. J. Med. Sci. 209: 561-568, 1945.
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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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Cotter, P. D., Baumann, M., Bishop, D. F.
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<strong>Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.</strong>
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Proc. Nat. Acad. Sci. 89: 4028-4032, 1992.
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[PubMed: 1570328]
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[Full Text: https://doi.org/10.1073/pnas.89.9.4028]
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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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Cotter, P. D., May, A., Fitzsimons, E. J., Houston, T., Woodcock, B. E., Al-Sabah, A. I., Wong, L., Bishop, D. F.
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<strong>Late-onset X-linked sideroblastic anemia: missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.</strong>
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J. Clin. Invest. 96: 2090-2096, 1995.
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[PubMed: 7560104]
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[Full Text: https://doi.org/10.1172/JCI118258]
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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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Cotter, P. D., May, A., Li, L., Al-Sabah, A. I., Fitzsimons, E. J., Cazzola, M., Bishop, D. F.
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<strong>Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.</strong>
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Blood 93: 1757-1769, 1999.
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[PubMed: 10029606]
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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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Cotter, P. D., Rucknagel, D. L., Bishop, D. F.
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Kopple, J. D., Mercurio, K., Blumenkrantz, M. J., Jones, M. R., Tallos, J., Roberts, C., Card, B., Saltzman, R., Casciato, D. A., Swendseid, M. E.
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Lee, G. R., MacDiarmid, W. D., Cartwright, G. E., Wintrobe, M. M.
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<strong>Hereditary, X-linked, sideroachrestic anemia: the isolation of two erythrocyte populations differing in Xg(A) blood type and porphyrin content.</strong>
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Blood 32: 59-70, 1968.
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Losowsky, M. S., Hall, R.
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Peto, T. E. A., Pippard, M. J., Weatherall, D. J.
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<strong>Iron overload in mild sideroblastic anaemias.</strong>
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Lancet 321: 375-378, 1983. Note: Originally Volume I.
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Pinkerton, P. H.
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<strong>X-linked hypochromic anaemia. (Letter)</strong>
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Lancet 289: 1106-1107, 1967. Note: Originally Volume I.
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Prasad, A. S., Tranchida, L., Konno, E. T., Berman, L., Albert, S., Sing, C. F., Brewer, G. J.
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<strong>Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family.</strong>
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J. Clin. Invest. 47: 1415-1424, 1968.
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Rundles, R. W., Falls, H. F.
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<strong>Hereditary (sex-linked) anemia.</strong>
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Sessarego, M., Bianchi Scarra, G., Giuntini, P., Ajmar, F.
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<strong>On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia.</strong>
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<strong>Hereditary sideroblastic anemia with associated platelet abnormalities.</strong>
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Spitzer, N., Newcomb, T. F., Noyes, W. D.
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<strong>Pyridoxine-responsive hypolipidemia and hypocholesterolemia in a patient with pyridoxine responsive anemia.</strong>
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New Eng. J. Med. 274: 772-775, 1966.
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[PubMed: 17926884]
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Weatherall, D. J., Pembrey, M. E., Hall, E. G., Sanger, R., Tippett, P., Gavin, J.
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<strong>Familial sideroblastic anaemia: problem of Xg and X chromosomes inactivation.</strong>
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Lancet 296: 744-748, 1970. Note: Originally Volume 2.
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[PubMed: 4195979]
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