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<title>
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Entry
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- #300908 - ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1; CNSHA1
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- OMIM
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<span class="h4">#300908</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS300908"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#animalModel">Animal Model</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, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC) OR (G6PD)" 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=24102&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300908[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="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/OMIA000416/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0051003" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 466026<br />
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<strong>DO:</strong> 0051003<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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300908
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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, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1; CNSHA1
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY<br />
|
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FAVISM, SUSCEPTIBILITY TO
|
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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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/870?start=-3&limit=10&highlight=870">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300908"> 300908 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</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>
|
|
<span class="mim-font">
|
|
G6PD
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305900"> 305900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300908" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS300908" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/300908" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300908" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pallor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398979000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R23.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R23.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/782.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">782.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000980</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000980</a>]</span><br /> -
|
|
Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Fever <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386661006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386661006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50177009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50177009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015967</a>, <a href="https://bioportal.bioontology.org/search?q=C0424755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424755</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hemolytic anemia, acute (drug-induced or following ingestion of fava beans) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4692645&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4692645</a>]</span><br /> -
|
|
Reticulocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46049004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46049004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span><br /> -
|
|
Heinz bodies seen on methyl violet staining <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4692646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4692646</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42222008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42222008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250236003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250236003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020082" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020082</a>]</span><br /> -
|
|
Hemighosts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228044&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228044</a>]</span><br /> -
|
|
Nucleated red cells <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84227004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84227004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29208003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29208003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014762&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014762</a>, <a href="https://bioportal.bioontology.org/search?q=C0483203&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0483203</a>]</span><br /> -
|
|
Neutrophil leukocytosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4692647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4692647</a>]</span><br /> -
|
|
Anisocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165475005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57241006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57241006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R71.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R71.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011273</a>]</span><br /> -
|
|
Poikilocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165479004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165479004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R71.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R71.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221281&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221281</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004447</a>]</span><br />
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
|
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|
|
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124134002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124134002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62403005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62403005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939465</a>]</span><br /> -
|
|
Hyperbilirubinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14783006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14783006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26165005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26165005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020433</a>, <a href="https://bioportal.bioontology.org/search?q=C0311468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311468</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>]</span><br /> -
|
|
Elevated serum unconjugated bilirubin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241024</a>]</span><br /> -
|
|
Hemoglobinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68600005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68600005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019048&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019048</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003641</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003641</a>]</span><br />
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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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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Anemia may follow ingestion of fava beans (Vicia faba) or treatment with antimalarial drugs such as primaquine<br /> -
|
|
G6PD deficiency prevalence is increased in Greece, Italy, the Middle East, and North Africa, Thailand, and China<br />
|
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|
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</span>
|
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</div>
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</div>
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|
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</div>
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<div>
|
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<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 glucose-6-phosphate dehydrogenase gene (G6PD, <a href="/entry/305900#0001">305900.0001</a>)<br />
|
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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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Anemia, congenital, nonspherocytic hemolytic
|
|
- <a href="/phenotypicSeries/PS300908">PS300908</a>
|
|
- 10 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/1/1222?start=-3&limit=10&highlight=1222"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266200"> Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient </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>
|
|
<span class="mim-font">
|
|
<a href="/entry/266200"> 266200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609712"> PKLR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609712"> 609712 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/601?start=-3&limit=10&highlight=601"> 6p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230450"> Anemia, congenital, nonspherocytic hemolytic, 7 </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>
|
|
<span class="mim-font">
|
|
<a href="/entry/230450"> 230450 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606857"> GCLC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606857"> 606857 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/178?start=-3&limit=10&highlight=178"> 7p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266120"> Anemia, congenital, nonspherocytic hemolytic, 8 </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>
|
|
<span class="mim-font">
|
|
<a href="/entry/266120"> 266120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606224"> NT5C3A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606224"> 606224 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/180?start=-3&limit=10&highlight=180"> 8p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618660"> Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient </a>
|
|
</span>
|
|
</td>
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<a href="/entry/301083"> Anemia, congenital, nonspherocytic hemolytic, 9 </a>
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<a href="/entry/300908"> Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient </a>
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<a href="/entry/305900"> 305900 </a>
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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 of evidence that congenital nonspherocytic hemolytic anemia-1 (CNSHA1) is caused by mutation in the G6PD gene (<a href="/entry/305900">305900</a>) on chromosome Xq28.</p>
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<p>Congenital nonspherocytic hemolytic anemia-1 (CNSHA1), caused by mutation in the G6PD gene, is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see <a href="/entry/611162">611162</a>) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by <a href="#8" class="mim-tip-reference" title="Cappellini, M. D., Fiorelli, G. <strong>Glucose-6-phosphate dehydrogenase deficiency.</strong> Lancet 371: 64-74, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18177777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18177777</a>] [<a href="https://doi.org/10.1016/S0140-6736(08)60073-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18177777">Cappellini and Fiorelli, 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18177777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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 primaquine-sensitive patients with hemolytic anemia, <a href="#9" class="mim-tip-reference" title="Carson, P. E., Flanagan, C. L., Ickes, C. E., Alving, A. S. <strong>Enzymatic deficiency in primaquine-sensitive erythrocytes.</strong> Science 124: 484-485, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13360274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13360274</a>] [<a href="https://doi.org/10.1126/science.124.3220.484-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13360274">Carson et al. (1956)</a> demonstrated an abnormality in the direct oxidation of glucose in red blood cells and deficiency of glucose-6-phosphate dehydrogenase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13360274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#11" class="mim-tip-reference" title="Cooper, M. R., Dechatelet, L. R., McCall, C. E., Lavia, M. F., Spurr, C. L., Baehner, R. L. <strong>Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity.</strong> J. Clin. Invest. 51: 769-778, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4401271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4401271</a>] [<a href="https://doi.org/10.1172/JCI106871" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4401271">Cooper et al. (1972)</a> and <a href="#15" class="mim-tip-reference" title="Gray, G. R., Stamatoyannopoulos, G., Naiman, S. C., Kliman, M. R., Klebanoff, S. J., Austin, T., Yoshida, A., Robinson, G. C. G. <strong>Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase.</strong> Lancet 302: 530-534, 1973. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4125296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4125296</a>] [<a href="https://doi.org/10.1016/s0140-6736(73)92350-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4125296">Gray et al. (1973)</a> found that complete deficiency of G6PD produces not only nonspherocytic hemolytic anemia but also chronic granulomatous disease due to neutrophil dysfunction. The patient of <a href="#11" class="mim-tip-reference" title="Cooper, M. R., Dechatelet, L. R., McCall, C. E., Lavia, M. F., Spurr, C. L., Baehner, R. L. <strong>Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity.</strong> J. Clin. Invest. 51: 769-778, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4401271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4401271</a>] [<a href="https://doi.org/10.1172/JCI106871" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4401271">Cooper et al. (1972)</a> was a woman with complete leukocyte G6PD deficiency, partial deficiency in her red cells, and no family history of G6PD deficiency. Of the various possible explanations advanced by the authors, they preferred the suggestion that X-inactivation had affected the red cell and white cell series differently and that the patient indeed had G6PD deficiency. <a href="#15" class="mim-tip-reference" title="Gray, G. R., Stamatoyannopoulos, G., Naiman, S. C., Kliman, M. R., Klebanoff, S. J., Austin, T., Yoshida, A., Robinson, G. C. G. <strong>Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase.</strong> Lancet 302: 530-534, 1973. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4125296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4125296</a>] [<a href="https://doi.org/10.1016/s0140-6736(73)92350-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4125296">Gray et al. (1973)</a> described 3 affected brothers. The mother showed an intermediate defect in leukocyte microbicidal and metabolic activity, as well as red and white blood cell mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4401271+4125296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 Saudi Arabia, <a href="#24" class="mim-tip-reference" title="Mallouh, A. A., Abu-Osba, Y. K. <strong>Bacterial infections in children with glucose-6-phosphate dehydrogenase deficiency.</strong> J. Pediat. 111: 850-852, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3681550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3681550</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80202-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3681550">Mallouh and Abu-Osba (1987)</a> reviewed the G6PD status of all children aged 1 month to 14 years who were treated for meningitis, septicemia, osteomyelitis, or typhoid fever during a 9-year period. The observed frequency of G6PD deficiency was significantly higher than expected for the entire group, for females with both catalase-positive and catalase-negative infection, and for males with catalase-positive infections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3681550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#6" class="mim-tip-reference" title="Beutler, E. <strong>G6PD deficiency.</strong> Blood 84: 3613-3636, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949118</a>]" pmid="7949118">Beutler (1994)</a> pointed out that 35 years previously, William Demeshek, the first editor of the emerging journal 'Blood,' had invited him to write a review on 'The Hemolytic Effect of Primaquine and Related Compounds' (<a href="#4" class="mim-tip-reference" title="Beutler, E. <strong>The hemolytic effect of primaquine and related compounds: a review.</strong> Blood 14: 103-139, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13618370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13618370</a>]" pmid="13618370">Beutler, 1959</a>). <a href="#6" class="mim-tip-reference" title="Beutler, E. <strong>G6PD deficiency.</strong> Blood 84: 3613-3636, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949118</a>]" pmid="7949118">Beutler (1994)</a> attempted to put into perspective what had been learned in the 35-year interval and to touch upon what still needed to be learned. He provided a comprehensive tabulation of those G6PD variants that had been characterized at the DNA level as well as information on the population distribution of common G6PD mutations. He pointed out that the most dangerous consequence of G6PD deficiency is neonatal icterus. Kernicterus has been documented repeatedly in populations in which class 2 variants are common and is an important preventable form of mental retardation. Phototherapy has been used to reduce bilirubin levels and phenobarbital has been used prophylactically with some success. Exchange transfusion is required if the bilirubin exceeds 20 mg/dL. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13618370+7949118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#27" class="mim-tip-reference" title="Ninfali, P., Baronciani, L., Bardoni, A., Bresolin, N. <strong>Muscle expression of glucose-6-phosphate dehydrogenase deficiency in different variants.</strong> Clin. Genet. 48: 232-237, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825599</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04095.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825599">Ninfali et al. (1995)</a> studied muscle expression of G6PD in normal individuals and in persons with G6PD deficiency of 3 types. They were prompted to undertake these studies because of patients with symptoms such as myalgia, cramps, and muscle weakness under conditions of stress, particularly physical exertion. All 3 variants--Mediterranean (<a href="/entry/305900#0006">305900.0006</a>), Seattle-like (<a href="/entry/305900#0010">305900.0010</a>), and G6PD A- (<a href="/entry/305900#0002">305900.0002</a>)--showed the enzyme defect in muscle. A statistically significant relationship was found in the activity of G6PD in erythrocytes and muscle of male subjects. The results suggested to the authors that, for a given variant, the extent of the enzyme defect in muscle can be determined from the G6PD activity of erythrocytes, using an equation that they derived. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#10" class="mim-tip-reference" title="Cocco, P., Todde, P., Fornera, S., Manca, M. B., Manca, P., Sias, A. R. <strong>Mortality in a cohort of men expressing the glucose-6-phosphate dehydrogenase deficiency.</strong> Blood 91: 706-709, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9427729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9427729</a>]" pmid="9427729">Cocco et al. (1998)</a> reported a mortality study of a cohort of 1,756 men with G6PD deficiency identified during a 1981 population screening in Sardinia and followed during the period January 1, 1982 through December 31, 1992. Outcome measures were cause-specific standardized mortality ratios (SMRs), which were computed as 100 times the observed/expected ratio, with the general Sardinian male population as the reference. Deaths from all causes were significantly less than expected due to decreased SMRs for ischemic heart disease, cerebrovascular disease, and liver cirrhosis, which explained 95.6% of the deficit in total mortality. All cancer mortality was close to the expectation, with a significant increase in the SMR for non-Hodgkin lymphoma. Increased mortality from non-Hodgkin lymphoma and decrease in mortality from liver cirrhosis were new observations. Decrease in mortality from cardiovascular disease may have been based on selection bias because the population screening was not random but was based on volunteers, who may have been more concerned than the average about their health. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9427729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 comparison with normal neonates, G6PD-deficient neonates experience a 2-fold increase in the prevalence of significant hyperbilirubinemia requiring phototherapy. <a href="#16" class="mim-tip-reference" title="Kappas, A., Drummond, G. S., Valaes, T. <strong>A single dose of Sn-mesoporphyrin prevents development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns.</strong> Pediatrics 108: 25-30, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11433050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11433050</a>] [<a href="https://doi.org/10.1542/peds.108.1.25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11433050">Kappas et al. (2001)</a> tested the efficacy of a single dose of intramuscular SN-mesoporphyrin, a potent inhibitor of heme oxygenase activity, in ameliorating jaundice in G6PD-deficient newborns in Greece. When compared with an untreated control group and a group of G6PD-normal newborns, a single dose of SN-mesoporphyrin shifted the peak plasma bilirubin concentration distribution to lower values, even in relation to normal neonates, and entirely eliminated the need for phototherapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11433050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Susceptibility to Favism</em></strong></p><p>
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The most common trigger for acute hemolytic anemia in G6PD-deficient individuals is favism, caused by ingestion of fava beans (Vicia faba). V. faba contains high concentrations of 2 beta-glucosides: vicine and convicine. On ingestion of fava beans, these glucosides undergo hydrolysis by glucosidases present both in the beans and in the gastrointestinal tract, releasing the respective aglycones divicine and isouramil, which are capable of triggering a favism attack. Favism occurs commonly only where the frequency of G6PD deficiency is relatively high and where fava beans are a popular food item, i.e., in southern Europe, the Middle East, and Southeast Asia. Favism may be life-threatening, especially in children (summary by <a href="#19" class="mim-tip-reference" title="Luzzatto, L., Arese, P. <strong>Favism and glucose-6-phosphate dehydrogenase deficiency.</strong> New Eng. J. Med. 378: 60-71, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29298156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29298156</a>] [<a href="https://doi.org/10.1056/nejmra1708111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29298156">Luzzatto and Arese, 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29298156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Resistance to Malaria</em></strong></p><p>
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That resistance to severe malaria (see <a href="/entry/611162">611162</a>) is the basis of the high frequency of G6PD deficiency and that both hemizygotes and heterozygotes enjoy an advantage was established by <a href="#32" class="mim-tip-reference" title="Ruwende, C., Khoo, S. C., Snow, R. W., Yates, S. N. R., Kwiatkoweld, D., Gupta, S., Warn, P., Alisopp, G. E. M., Gilbert, S. C., Peschu, N., Newbold, C. I., Greenwood, S. M., Marsh, K., Hill, A. V. S. <strong>Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria.</strong> Nature 376: 246-249, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7617034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7617034</a>] [<a href="https://doi.org/10.1038/376246a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7617034">Ruwende et al. (1995)</a> in 2 large case-control studies of more than 2,000 African children. They found that the common African form of G6PD deficiency (G6PD A-; <a href="/entry/305900#0002">305900.0002</a>) was associated with a 46 to 58% reduction in risk of severe malaria for both female heterozygotes and male hemizygotes. A mathematical model incorporating the measured selective advantage against malaria suggested that a counterbalancing selective disadvantage, associated with this enzyme deficiency, has retarded its rise in frequency in malaria-endemic regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7617034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>G6PD deficiency is an X-linked dominant disorder (<a href="#19" class="mim-tip-reference" title="Luzzatto, L., Arese, P. <strong>Favism and glucose-6-phosphate dehydrogenase deficiency.</strong> New Eng. J. Med. 378: 60-71, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29298156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29298156</a>] [<a href="https://doi.org/10.1056/nejmra1708111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29298156">Luzzatto and Arese, 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29298156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>X-chromosome Inactivation</em></strong></p><p>
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<a href="#30" 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 the mechanism for a skewed pattern of X-chromosome inactivation in females heterozygous for X-linked traits. Their Figure 1 diagrammed 3 different mechanisms for an extremely unbalanced pattern of somatic cell mosaicism in women after X inactivation. <a href="#20" class="mim-tip-reference" title="Luzzatto, L., Martini, G. <strong>X-Linked Wiskott-Aldrich syndrome in a girl. (Letter)</strong> New Eng. J. Med. 338: 1850-1851, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634368</a>]" pmid="9634368">Luzzatto and Martini (1998)</a> noted that at least one possible example of each of the 3 mechanisms at work in different women with G6PD deficiency can be pointed to. The first mechanism (the extreme end of a normal distribution curve after random X inactivation) was deemed the simplest explanation for the G6PD values in the fully deficient range reported by <a href="#31" class="mim-tip-reference" title="Rinaldi, A., Filippi, G., Siniscalco, M. <strong>Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.</strong> Am. J. Hum. Genet. 28: 496-505, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/984045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">984045</a>]" pmid="984045">Rinaldi et al. (1976)</a> in about 1% of genetically confirmed heterozygotes for the Mediterranean variant of G6PD deficiency (<a href="/entry/305900#0006">305900.0006</a>). The second mechanism could be called 'somatic selection after X inactivation.' <a href="#20" class="mim-tip-reference" title="Luzzatto, L., Martini, G. <strong>X-Linked Wiskott-Aldrich syndrome in a girl. (Letter)</strong> New Eng. J. Med. 338: 1850-1851, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634368</a>]" pmid="9634368">Luzzatto and Martini (1998)</a> preferred this term to 'nonrandom X inactivation' because, in fact, X inactivation itself is still random. This mechanism has been well characterized (<a href="#14" class="mim-tip-reference" title="Filosa, S., Giacometti, N., Wangwei, C., De Mattia, D., Pagnini, D., Alfinito, F., Schettini, F., Luzzatto, L., Martini, G. <strong>Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.</strong> Am. J. Hum. Genet. 59: 887-895, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808605</a>]" pmid="8808605">Filosa et al., 1996</a>) in many heterozygous mothers of patients with chronic nonspherocytic hemolytic anemia due to G6PD deficiency. Here, the selection affects hematopoietic cells in a way that is analogous to what happens to lymphoid cells in immunodeficiency syndromes. As for the third mechanism, G6PD Ilesha (<a href="/entry/305900#0004">305900.0004</a>) was observed by <a href="#22" class="mim-tip-reference" title="Luzzatto, L., Usanga, E. A., Bienzle, U., Esan, G. F. J., Fusuan, F. A. <strong>Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells.</strong> Science 205: 1418-1420, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/472761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">472761</a>] [<a href="https://doi.org/10.1126/science.472761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="472761">Luzzatto et al. (1979)</a> in a family in which every heterozygous woman had an extremely unbalanced X-inactivation pattern, which could not have resulted from selection against the cells with G6PD Ilesha, because in some members of the family, the imbalance favored the X chromosome with a normal G6PD allele, whereas in other members, it favored the X chromosome with the G6PD Ilesha allele. Although at the time of report the explanation favored was selection for cells expressing a selectable allele of some other X-linked gene, there may have been a defect in the X-inactivation process in this family. Since the X-inactivation-specific transcript (XIST; <a href="/entry/314670">314670</a>) gene maps to Xq13 and G6PD maps to Xq28, one would predict an even chance of recombination, in keeping with what was observed in the family with the G6PD Ilesha mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=472761+8808605+9445416+9634368+984045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#26" class="mim-tip-reference" title="Miwa, S., Fujii, H. <strong>Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.</strong> Am. J. Hemat. 51: 122-132, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8579052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8579052</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8652(199602)51:2<122::AID-AJH5>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8579052">Miwa and Fujii (1996)</a> stated that an estimated 400 million people worldwide have G6PD deficiency associated with chronic hemolytic anemia and/or drug- or infection-induced acute hemolytic attacks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8579052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The highest prevalence of G6PD deficiency is found in Africa, southern Europe, the Middle East, Southeast Asia, and the central and southern Pacific islands (summary by <a href="#8" class="mim-tip-reference" title="Cappellini, M. D., Fiorelli, G. <strong>Glucose-6-phosphate dehydrogenase deficiency.</strong> Lancet 371: 64-74, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18177777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18177777</a>] [<a href="https://doi.org/10.1016/S0140-6736(08)60073-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18177777">Cappellini and Fiorelli, 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18177777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#19" class="mim-tip-reference" title="Luzzatto, L., Arese, P. <strong>Favism and glucose-6-phosphate dehydrogenase deficiency.</strong> New Eng. J. Med. 378: 60-71, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29298156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29298156</a>] [<a href="https://doi.org/10.1056/nejmra1708111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29298156">Luzzatto and Arese (2018)</a> stated that favism had been reported in 35 countries and that more than 3,000 cases, mostly involving children, had been reported between 1988 and 2018. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29298156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>All G6PD mutations known, except G6PD A (<a href="/entry/305900#0001">305900.0001</a>), are associated with more or less severe enzyme deficiency but never with complete loss of activity; complete loss would be lethal (summary by <a href="#21" class="mim-tip-reference" title="Luzzatto, L., Nannelli, C., Notaro, R. <strong>Glucose-6-phosphate dehydrogenase deficiency.</strong> Hemat. Oncol. Clin. North Am. 30: 373-393, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27040960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27040960</a>] [<a href="https://doi.org/10.1016/j.hoc.2015.11.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27040960">Luzzatto et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27040960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Variants of G6PD deficiency have been divided into 5 classes according to the level of enzyme activity: class 1--severe enzyme deficiency associated with chronic nonspherocytic hemolytic anemia; class 2--severe enzyme deficiency (less than 10%) associated with acute hemolytic anemia; class 3--moderate to mild enzyme deficiency (10-60%); class 4--very mild or no enzyme deficiency (60%); class 5--increased enzyme activity. Mutations causing nonspherocytic hemolytic anemia are clustered near the carboxy end of the enzyme, in the region between amino acids 362 and 446, whereas most of the clinically mild mutations are located at the amino terminal end of the molecule. As the intragenic defects have been identified, many variants that were thought to be unique have been found to be identical on sequence analysis (<a href="#2" class="mim-tip-reference" title="Beutler, E., Kuhl, W., Gelbart, T., Forman, L. <strong>DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants.</strong> J. Biol. Chem. 266: 4145-4150, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999409</a>]" pmid="1999409">Beutler et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 patients with nonspherocytic hemolytic anemia, <a href="#3" class="mim-tip-reference" title="Beutler, E., Westwood, B., Prchal, J. T., Vaca, G., Bartsocas, C. S., Baronciani, L. <strong>New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.</strong> Blood 80: 255-256, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1611091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1611091</a>]" pmid="1611091">Beutler et al. (1992)</a> identified missense mutations in the G6PD gene (see, e.g., <a href="/entry/305900#0034">305900.0034</a>; <a href="/entry/305900#0037">305900.0037</a>-<a href="/entry/305900#0040">305900.0040</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1611091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#14" class="mim-tip-reference" title="Filosa, S., Giacometti, N., Wangwei, C., De Mattia, D., Pagnini, D., Alfinito, F., Schettini, F., Luzzatto, L., Martini, G. <strong>Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.</strong> Am. J. Hum. Genet. 59: 887-895, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808605</a>]" pmid="8808605">Filosa et al. (1996)</a> analyzed fractionated blood cells in 4 heterozygotes for the class 1 G6PD mutations G6PD Portici (<a href="/entry/305900#0008">305900.0008</a>) and G6PD Bari (1187G-T). In erythroid, myeloid, and lymphoid cell lineages there was a significant excess of G6PD-normal cells, suggesting that a selective mechanism operates at the level of pluripotent blood stem cells. They concluded that their studies provided evidence that severe G6PD deficiency adversely affects the proliferation or survival of nucleated blood cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#35" class="mim-tip-reference" title="Vulliamy, T. J., Kaeda, J. S., Ait-Chafa, D., Mangerini, R., Roper, D., Barbot, J., Mehta, A. B., Athanassiou-Metaxa, M., Luzzatto, L., Mason, P. J. <strong>Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia.</strong> Brit. J. Haemat. 101: 670-675, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674740</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00763.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9674740">Vulliamy et al. (1998)</a> determined the causative mutation in 12 cases of G6PD deficiency associated with chronic nonspherocytic hemolytic anemia. In 11 cases, the mutation they found had previously been reported in unrelated individuals. These mutations comprised 7 different missense mutations and a 24-bp deletion, G6PD Nara (<a href="/entry/305900#0052">305900.0052</a>), previously found in a Japanese boy. Repeated findings of the same mutations suggest that a limited number of amino acid changes can produce the chronic nonspherocytic hemolytic anemia phenotype and be compatible with normal development. They found 1 new mutation, G6PD Serres (<a href="/entry/305900#0051">305900.0051</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9674740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#26" class="mim-tip-reference" title="Miwa, S., Fujii, H. <strong>Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.</strong> Am. J. Hemat. 51: 122-132, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8579052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8579052</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8652(199602)51:2<122::AID-AJH5>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8579052">Miwa and Fujii (1996)</a> listed the mutations responsible for about 78 G6PD variants. Molecular studies disclosed that most of the class 1 G6PD variants associated with chronic hemolysis have the mutations surrounding either the substrate- or NADP-binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8579052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#12" class="mim-tip-reference" title="Costa, E., Cabeda, J. M., Vieira, E., Pinto, R., Pereira, S. A., Ferraz, L., Santos, R., Barbot, J. <strong>Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia.</strong> Blood 95: 1499-1501, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10666231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10666231</a>]" pmid="10666231">Costa et al. (2000)</a> pointed out that G6PD mutants causing class 1 variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. They identified a class 1 variant (G6PD Aveiro) mapping to exon 8 (<a href="/entry/305900#0053">305900.0053</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10666231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#1" class="mim-tip-reference" title="Beaconsfield, P., Rainsbury, R., Kalton, G. <strong>Glucose-6-phosphate dehydrogenase deficiency and the incidence of cancer.</strong> Oncologia 19: 11-19, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14285010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14285010</a>] [<a href="https://doi.org/10.1159/000224280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14285010">Beaconsfield et al. (1965)</a> advanced the hypothesis that the incidence of cancer is inversely related to the frequency of G6PD deficiency in blacks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14285010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Vicia faba apparently produces a substance that induces hemolysis of enzyme-deficient red cells (<a href="#23" class="mim-tip-reference" title="Mager, J., Glaser, G., Razin, A., Izak, G., Bien, S., Noam, M. <strong>Metabolic effects of pyrimidines derived from fava bean glycosides on human erythrocytes deficient in glucose-6-phosphate dehydrogenase.</strong> Biochem. Biophys. Res. Commun. 20: 235-240, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5850686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5850686</a>] [<a href="https://doi.org/10.1016/0006-291x(65)90352-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5850686">Mager et al., 1965</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5850686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#33" class="mim-tip-reference" title="Stamatoyannopoulos, G., Fraser, G. R., Motulsky, A. G., Fessas, P., Akrivakis, A., Papayannopoulou, T. <strong>On the familial predisposition to favism.</strong> Am. J. Hum. Genet. 18: 253-263, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5944419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5944419</a>]" pmid="5944419">Stamatoyannopoulos et al. (1966)</a> stated that hemolytic anemia following ingestion of the bean of Vicia faba is conditioned primarily by a deficiency of erythrocyte glucose-6-phosphate dehydrogenase. They noted that in areas where G6PD deficiency is frequent, favism shows familial aggregation probably not accounted for by the familial occurrence of the enzyme deficiency alone. They interpreted studies in Greece as indicating the presence of an autosomal gene that in heterozygous state enhances the susceptibility to favism of G6PD-deficient persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5944419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Beutler, E. <strong>L-DOPA and favism. (Editorial)</strong> Blood 36: 523-525, 1970."None>Beutler (1970)</a> suggested that DOPA-quinone is the active hemolytic principal in fava beans. (Fava beans are the main commercial source of L-DOPA.) Differences in susceptibility to favism by G6PD-deficient persons may be related to differences in the enzymatic system that converts L-DOPA to DOPA-quinone.</p><p>A genetic mechanism for susceptibility to favism on the part of G6PD-deficient persons was suggested by the finding of <a href="#7" class="mim-tip-reference" title="Bottini, E., Lucarelli, P., Agostino, R., Palmarino, R., Businco, L., Antognoni, G. <strong>Favism: association with erythrocyte acid phosphatase phenotype.</strong> Science 171: 409-411, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5538937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5538937</a>] [<a href="https://doi.org/10.1126/science.171.3969.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5538937">Bottini et al. (1971)</a> that persons with favism are more often of a particular red cell acid phosphatase type than would be expected on the basis of population frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5538937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Since the metabolism of xylitol remains intact in G6PD-deficient red cells, <a href="#36" class="mim-tip-reference" title="Wang, Y. M., Patterson, J. H., Van Eys, J. <strong>The potential use of xylitol in glucose-6-phosphate dehydrogenase deficiency anemia.</strong> J. Clin. Invest. 50: 1421-1428, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4397414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4397414</a>] [<a href="https://doi.org/10.1172/JCI106625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4397414">Wang et al. (1971)</a> suggested use of xylitol in the treatment of hemolytic crisis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4397414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#37" class="mim-tip-reference" title="Zinkham, W. H. <strong>A deficiency of glucose-6-phosphate dehydrogenase activity in lens from individuals with primaquine-sensitive erythrocytes.</strong> Bull. Johns Hopkins Hosp. 109: 206-216, 1961."None>Zinkham (1961)</a> found that individuals with primaquine-sensitive erythrocytes had deficiency of G6PD activity in the lens. <a href="#28" class="mim-tip-reference" title="Orzalesi, N., Sorcinelli, R., Guiso, G. <strong>Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase.</strong> Arch. Ophthal. 99: 69-70, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7458742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7458742</a>] [<a href="https://doi.org/10.1001/archopht.1981.03930010071004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7458742">Orzalesi et al. (1981)</a> found that G6PD deficiency was significantly more frequent among 210 male cataract patients in Sardinia than in 672 control subjects. This was particularly the case with presenile cataracts. Also in Sardinia, however, <a href="#25" class="mim-tip-reference" title="Meloni, T., Carta, F., Forteleoni, G., Carta, A., Ena, F., Meloni, G. F. <strong>Glucose 6-phosphate dehydrogenase deficiency and cataract of patients in northern Sardinia.</strong> Am. J. Ophthal. 110: 661-664, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2248331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2248331</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)77064-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2248331">Meloni et al. (1990)</a> found that patients with cataract had frequencies of G6PD deficiency no different from those in the general population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7458742+2248331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Ferraris, A. M., Broccia, G., Meloni, T., Forteleoni, G., Gaetani, G. F. <strong>Glucose-6-phosphate dehydrogenase deficiency and incidence of hematologic malignancy.</strong> Am. J. Hum. Genet. 42: 516-520, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3348216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3348216</a>]" pmid="3348216">Ferraris et al. (1988)</a> examined the hypothesis that there is a negative correlation between G6PD deficiency and hematologic malignancy. The frequency of G6PD deficiency in 481 Sardinian males with hematologic malignancies was not significantly different from that in a group of 16,219 controls. Similarly, no differences were found in the frequency of expression of the Gd(B) gene in women with clonal hematologic disorders and healthy heterozygotes. There was no evidence that G6PD provides a protective effect against the development of hematologic malignancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3348216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#17" class="mim-tip-reference" title="Lee, K. T., Thomas, W. A., Janakidevi, K., Kroms, M., Reiner, J. M., Borg, K. Y. <strong>Mosaicism in female hybrid hares heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD). I. General properties of a hybrid hare model with special reference to atherogenesis.</strong> Exp. Molec. Path. 34: 191-201, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7202686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7202686</a>] [<a href="https://doi.org/10.1016/0014-4800(81)90075-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7202686">Lee et al. (1981)</a> observed G6PD heterozygosity in female hares. <a href="#29" class="mim-tip-reference" title="Pretsch, W., Charles, D. J., Merkle, S. <strong>X-linked glucose-6-phosphate-dehydrogenase deficiency in Mus musculus.</strong> Biochem. Genet. 26: 89-103, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377761</a>] [<a href="https://doi.org/10.1007/BF00555491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3377761">Pretsch et al. (1988)</a> recovered a mouse with X-linked G6PD deficiency from the offspring of 1-ethyl-1-nitrosourea-treated male mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7202686+3377761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Stockham, S. L., Harvey, J. W., Kinden, D. A. <strong>Equine glucose-6-phosphate dehydrogenase deficiency.</strong> Vet. Path. 31: 518-527, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7801429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7801429</a>] [<a href="https://doi.org/10.1177/030098589403100503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7801429">Stockham et al. (1994)</a> observed G6PD deficiency causing persistent hemolytic anemia and hyperbilirubinemia in a male American Saddlebred horse. The dam had abnormalities consistent with heterozygosity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7801429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#18" class="mim-tip-reference" title="Longo, L., Vanegas, O. C., Patel, M., Rosti, V., Li, H., Waka, J., Merghoub, T., Pandolfi, P. P., Notaro, R., Manova, K., Luzzatto, L. <strong>Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal.</strong> EMBO J. 21: 4229-4239, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12169625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12169625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12169625[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/cdf426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12169625">Longo et al. (2002)</a> crossed mouse chimeras from embryonic stem cells in which the G6pd gene had been targeted with normal females. First-generation G6pd heterozygotes born from this cross were essentially normal; their tissues demonstrated strong selection for cells with the targeted G6pd allele on the inactive X chromosome. When these first-generation heterozygous females were bred to normal males, only normal G6pd mice were born. There were 3 reasons for this: hemizygous G6pd male embryos' development was arrested from embryonic day 7.5, the time of onset of blood circulation, and they died by embryonic day 10.5; heterozygous G6pd females showed abnormalities from embryonic day 8.5, and died by embryonic day 11.5; and severe pathologic changes were present in the placenta of both G6pd hemizygous and heterozygous embryos. Thus, G6PD is not indispensable for early embryonic development; however, severe G6PD deficiency in the extraembryonic tissues (consequent on selective inactivation of the normal paternal G6PD allele) impairs the development of the placenta and causes death of the embryo. Most importantly, G6PD is indispensable for survival when the embryo is exposed to oxygen through its blood supply. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12169625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1126/science.124.3220.484-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI106871" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3348216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3348216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3348216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase.</strong>
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Lancet 302: 530-534, 1973. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(73)92350-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1542/peds.108.1.25" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-4800(81)90075-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.472761" target="_blank">Full Text</a>]
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Stamatoyannopoulos, G., Fraser, G. R., Motulsky, A. G., Fessas, P., Akrivakis, A., Papayannopoulou, T.
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<strong>On the familial predisposition to favism.</strong>
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Am. J. Hum. Genet. 18: 253-263, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5944419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5944419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5944419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Stockham, S. L., Harvey, J. W., Kinden, D. A.
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<strong>Equine glucose-6-phosphate dehydrogenase deficiency.</strong>
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Vet. Path. 31: 518-527, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7801429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7801429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7801429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/030098589403100503" target="_blank">Full Text</a>]
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Vulliamy, T. J., Kaeda, J. S., Ait-Chafa, D., Mangerini, R., Roper, D., Barbot, J., Mehta, A. B., Athanassiou-Metaxa, M., Luzzatto, L., Mason, P. J.
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<strong>Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia.</strong>
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Brit. J. Haemat. 101: 670-675, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9674740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.1998.00763.x" target="_blank">Full Text</a>]
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Wang, Y. M., Patterson, J. H., Van Eys, J.
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<strong>The potential use of xylitol in glucose-6-phosphate dehydrogenase deficiency anemia.</strong>
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J. Clin. Invest. 50: 1421-1428, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4397414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4397414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4397414" target="_blank" onclick="gtag('event', '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/JCI106625" target="_blank">Full Text</a>]
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Zinkham, W. H.
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<strong>A deficiency of glucose-6-phosphate dehydrogenase activity in lens from individuals with primaquine-sensitive erythrocytes.</strong>
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Bull. Johns Hopkins Hosp. 109: 206-216, 1961.
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Carol A. Bocchini : 10/23/2013
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carol : 10/15/2024
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carol : 10/14/2024<br>carol : 10/11/2024<br>ckniffin : 10/02/2024<br>carol : 02/14/2018<br>carol : 01/11/2018<br>carol : 01/09/2018<br>carol : 09/01/2015<br>carol : 10/28/2013<br>carol : 10/24/2013<br>carol : 10/24/2013
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ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1; CNSHA1
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ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY<br />
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FAVISM, SUSCEPTIBILITY TO
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<strong>ORPHA:</strong> 466026;
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<strong>DO:</strong> 0051003;
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Phenotype
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Xq28
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Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient
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300908
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X-linked
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3
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G6PD
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305900
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<p>A number sign (#) is used with this entry because of evidence that congenital nonspherocytic hemolytic anemia-1 (CNSHA1) is caused by mutation in the G6PD gene (305900) on chromosome Xq28.</p>
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<p>Congenital nonspherocytic hemolytic anemia-1 (CNSHA1), caused by mutation in the G6PD gene, is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). </p>
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<strong>Clinical Features</strong>
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<p>In primaquine-sensitive patients with hemolytic anemia, Carson et al. (1956) demonstrated an abnormality in the direct oxidation of glucose in red blood cells and deficiency of glucose-6-phosphate dehydrogenase. </p><p>Cooper et al. (1972) and Gray et al. (1973) found that complete deficiency of G6PD produces not only nonspherocytic hemolytic anemia but also chronic granulomatous disease due to neutrophil dysfunction. The patient of Cooper et al. (1972) was a woman with complete leukocyte G6PD deficiency, partial deficiency in her red cells, and no family history of G6PD deficiency. Of the various possible explanations advanced by the authors, they preferred the suggestion that X-inactivation had affected the red cell and white cell series differently and that the patient indeed had G6PD deficiency. Gray et al. (1973) described 3 affected brothers. The mother showed an intermediate defect in leukocyte microbicidal and metabolic activity, as well as red and white blood cell mosaicism. </p><p>In Saudi Arabia, Mallouh and Abu-Osba (1987) reviewed the G6PD status of all children aged 1 month to 14 years who were treated for meningitis, septicemia, osteomyelitis, or typhoid fever during a 9-year period. The observed frequency of G6PD deficiency was significantly higher than expected for the entire group, for females with both catalase-positive and catalase-negative infection, and for males with catalase-positive infections. </p><p>Beutler (1994) pointed out that 35 years previously, William Demeshek, the first editor of the emerging journal 'Blood,' had invited him to write a review on 'The Hemolytic Effect of Primaquine and Related Compounds' (Beutler, 1959). Beutler (1994) attempted to put into perspective what had been learned in the 35-year interval and to touch upon what still needed to be learned. He provided a comprehensive tabulation of those G6PD variants that had been characterized at the DNA level as well as information on the population distribution of common G6PD mutations. He pointed out that the most dangerous consequence of G6PD deficiency is neonatal icterus. Kernicterus has been documented repeatedly in populations in which class 2 variants are common and is an important preventable form of mental retardation. Phototherapy has been used to reduce bilirubin levels and phenobarbital has been used prophylactically with some success. Exchange transfusion is required if the bilirubin exceeds 20 mg/dL. </p><p>Ninfali et al. (1995) studied muscle expression of G6PD in normal individuals and in persons with G6PD deficiency of 3 types. They were prompted to undertake these studies because of patients with symptoms such as myalgia, cramps, and muscle weakness under conditions of stress, particularly physical exertion. All 3 variants--Mediterranean (305900.0006), Seattle-like (305900.0010), and G6PD A- (305900.0002)--showed the enzyme defect in muscle. A statistically significant relationship was found in the activity of G6PD in erythrocytes and muscle of male subjects. The results suggested to the authors that, for a given variant, the extent of the enzyme defect in muscle can be determined from the G6PD activity of erythrocytes, using an equation that they derived. </p><p>Cocco et al. (1998) reported a mortality study of a cohort of 1,756 men with G6PD deficiency identified during a 1981 population screening in Sardinia and followed during the period January 1, 1982 through December 31, 1992. Outcome measures were cause-specific standardized mortality ratios (SMRs), which were computed as 100 times the observed/expected ratio, with the general Sardinian male population as the reference. Deaths from all causes were significantly less than expected due to decreased SMRs for ischemic heart disease, cerebrovascular disease, and liver cirrhosis, which explained 95.6% of the deficit in total mortality. All cancer mortality was close to the expectation, with a significant increase in the SMR for non-Hodgkin lymphoma. Increased mortality from non-Hodgkin lymphoma and decrease in mortality from liver cirrhosis were new observations. Decrease in mortality from cardiovascular disease may have been based on selection bias because the population screening was not random but was based on volunteers, who may have been more concerned than the average about their health. </p><p>In comparison with normal neonates, G6PD-deficient neonates experience a 2-fold increase in the prevalence of significant hyperbilirubinemia requiring phototherapy. Kappas et al. (2001) tested the efficacy of a single dose of intramuscular SN-mesoporphyrin, a potent inhibitor of heme oxygenase activity, in ameliorating jaundice in G6PD-deficient newborns in Greece. When compared with an untreated control group and a group of G6PD-normal newborns, a single dose of SN-mesoporphyrin shifted the peak plasma bilirubin concentration distribution to lower values, even in relation to normal neonates, and entirely eliminated the need for phototherapy. </p><p><strong><em>Susceptibility to Favism</em></strong></p><p>
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The most common trigger for acute hemolytic anemia in G6PD-deficient individuals is favism, caused by ingestion of fava beans (Vicia faba). V. faba contains high concentrations of 2 beta-glucosides: vicine and convicine. On ingestion of fava beans, these glucosides undergo hydrolysis by glucosidases present both in the beans and in the gastrointestinal tract, releasing the respective aglycones divicine and isouramil, which are capable of triggering a favism attack. Favism occurs commonly only where the frequency of G6PD deficiency is relatively high and where fava beans are a popular food item, i.e., in southern Europe, the Middle East, and Southeast Asia. Favism may be life-threatening, especially in children (summary by Luzzatto and Arese, 2018). </p><p><strong><em>Resistance to Malaria</em></strong></p><p>
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That resistance to severe malaria (see 611162) is the basis of the high frequency of G6PD deficiency and that both hemizygotes and heterozygotes enjoy an advantage was established by Ruwende et al. (1995) in 2 large case-control studies of more than 2,000 African children. They found that the common African form of G6PD deficiency (G6PD A-; 305900.0002) was associated with a 46 to 58% reduction in risk of severe malaria for both female heterozygotes and male hemizygotes. A mathematical model incorporating the measured selective advantage against malaria suggested that a counterbalancing selective disadvantage, associated with this enzyme deficiency, has retarded its rise in frequency in malaria-endemic regions. </p>
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<p>G6PD deficiency is an X-linked dominant disorder (Luzzatto and Arese, 2018). </p><p><strong><em>X-chromosome Inactivation</em></strong></p><p>
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Puck and Willard (1998) reviewed the mechanism for a skewed pattern of X-chromosome inactivation in females heterozygous for X-linked traits. Their Figure 1 diagrammed 3 different mechanisms for an extremely unbalanced pattern of somatic cell mosaicism in women after X inactivation. Luzzatto and Martini (1998) noted that at least one possible example of each of the 3 mechanisms at work in different women with G6PD deficiency can be pointed to. The first mechanism (the extreme end of a normal distribution curve after random X inactivation) was deemed the simplest explanation for the G6PD values in the fully deficient range reported by Rinaldi et al. (1976) in about 1% of genetically confirmed heterozygotes for the Mediterranean variant of G6PD deficiency (305900.0006). The second mechanism could be called 'somatic selection after X inactivation.' Luzzatto and Martini (1998) preferred this term to 'nonrandom X inactivation' because, in fact, X inactivation itself is still random. This mechanism has been well characterized (Filosa et al., 1996) in many heterozygous mothers of patients with chronic nonspherocytic hemolytic anemia due to G6PD deficiency. Here, the selection affects hematopoietic cells in a way that is analogous to what happens to lymphoid cells in immunodeficiency syndromes. As for the third mechanism, G6PD Ilesha (305900.0004) was observed by Luzzatto et al. (1979) in a family in which every heterozygous woman had an extremely unbalanced X-inactivation pattern, which could not have resulted from selection against the cells with G6PD Ilesha, because in some members of the family, the imbalance favored the X chromosome with a normal G6PD allele, whereas in other members, it favored the X chromosome with the G6PD Ilesha allele. Although at the time of report the explanation favored was selection for cells expressing a selectable allele of some other X-linked gene, there may have been a defect in the X-inactivation process in this family. Since the X-inactivation-specific transcript (XIST; 314670) gene maps to Xq13 and G6PD maps to Xq28, one would predict an even chance of recombination, in keeping with what was observed in the family with the G6PD Ilesha mutation. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miwa and Fujii (1996) stated that an estimated 400 million people worldwide have G6PD deficiency associated with chronic hemolytic anemia and/or drug- or infection-induced acute hemolytic attacks. </p><p>The highest prevalence of G6PD deficiency is found in Africa, southern Europe, the Middle East, Southeast Asia, and the central and southern Pacific islands (summary by Cappellini and Fiorelli, 2008). </p><p>Luzzatto and Arese (2018) stated that favism had been reported in 35 countries and that more than 3,000 cases, mostly involving children, had been reported between 1988 and 2018. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>All G6PD mutations known, except G6PD A (305900.0001), are associated with more or less severe enzyme deficiency but never with complete loss of activity; complete loss would be lethal (summary by Luzzatto et al., 2016). </p><p>Variants of G6PD deficiency have been divided into 5 classes according to the level of enzyme activity: class 1--severe enzyme deficiency associated with chronic nonspherocytic hemolytic anemia; class 2--severe enzyme deficiency (less than 10%) associated with acute hemolytic anemia; class 3--moderate to mild enzyme deficiency (10-60%); class 4--very mild or no enzyme deficiency (60%); class 5--increased enzyme activity. Mutations causing nonspherocytic hemolytic anemia are clustered near the carboxy end of the enzyme, in the region between amino acids 362 and 446, whereas most of the clinically mild mutations are located at the amino terminal end of the molecule. As the intragenic defects have been identified, many variants that were thought to be unique have been found to be identical on sequence analysis (Beutler et al., 1991). </p><p>In patients with nonspherocytic hemolytic anemia, Beutler et al. (1992) identified missense mutations in the G6PD gene (see, e.g., 305900.0034; 305900.0037-305900.0040). </p><p>Filosa et al. (1996) analyzed fractionated blood cells in 4 heterozygotes for the class 1 G6PD mutations G6PD Portici (305900.0008) and G6PD Bari (1187G-T). In erythroid, myeloid, and lymphoid cell lineages there was a significant excess of G6PD-normal cells, suggesting that a selective mechanism operates at the level of pluripotent blood stem cells. They concluded that their studies provided evidence that severe G6PD deficiency adversely affects the proliferation or survival of nucleated blood cells. </p><p>Vulliamy et al. (1998) determined the causative mutation in 12 cases of G6PD deficiency associated with chronic nonspherocytic hemolytic anemia. In 11 cases, the mutation they found had previously been reported in unrelated individuals. These mutations comprised 7 different missense mutations and a 24-bp deletion, G6PD Nara (305900.0052), previously found in a Japanese boy. Repeated findings of the same mutations suggest that a limited number of amino acid changes can produce the chronic nonspherocytic hemolytic anemia phenotype and be compatible with normal development. They found 1 new mutation, G6PD Serres (305900.0051). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Miwa and Fujii (1996) listed the mutations responsible for about 78 G6PD variants. Molecular studies disclosed that most of the class 1 G6PD variants associated with chronic hemolysis have the mutations surrounding either the substrate- or NADP-binding site. </p><p>Costa et al. (2000) pointed out that G6PD mutants causing class 1 variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. They identified a class 1 variant (G6PD Aveiro) mapping to exon 8 (305900.0053). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Beaconsfield et al. (1965) advanced the hypothesis that the incidence of cancer is inversely related to the frequency of G6PD deficiency in blacks. </p><p>Vicia faba apparently produces a substance that induces hemolysis of enzyme-deficient red cells (Mager et al., 1965). </p><p>Stamatoyannopoulos et al. (1966) stated that hemolytic anemia following ingestion of the bean of Vicia faba is conditioned primarily by a deficiency of erythrocyte glucose-6-phosphate dehydrogenase. They noted that in areas where G6PD deficiency is frequent, favism shows familial aggregation probably not accounted for by the familial occurrence of the enzyme deficiency alone. They interpreted studies in Greece as indicating the presence of an autosomal gene that in heterozygous state enhances the susceptibility to favism of G6PD-deficient persons. </p><p>Beutler (1970) suggested that DOPA-quinone is the active hemolytic principal in fava beans. (Fava beans are the main commercial source of L-DOPA.) Differences in susceptibility to favism by G6PD-deficient persons may be related to differences in the enzymatic system that converts L-DOPA to DOPA-quinone.</p><p>A genetic mechanism for susceptibility to favism on the part of G6PD-deficient persons was suggested by the finding of Bottini et al. (1971) that persons with favism are more often of a particular red cell acid phosphatase type than would be expected on the basis of population frequencies. </p><p>Since the metabolism of xylitol remains intact in G6PD-deficient red cells, Wang et al. (1971) suggested use of xylitol in the treatment of hemolytic crisis. </p><p>Zinkham (1961) found that individuals with primaquine-sensitive erythrocytes had deficiency of G6PD activity in the lens. Orzalesi et al. (1981) found that G6PD deficiency was significantly more frequent among 210 male cataract patients in Sardinia than in 672 control subjects. This was particularly the case with presenile cataracts. Also in Sardinia, however, Meloni et al. (1990) found that patients with cataract had frequencies of G6PD deficiency no different from those in the general population. </p><p>Ferraris et al. (1988) examined the hypothesis that there is a negative correlation between G6PD deficiency and hematologic malignancy. The frequency of G6PD deficiency in 481 Sardinian males with hematologic malignancies was not significantly different from that in a group of 16,219 controls. Similarly, no differences were found in the frequency of expression of the Gd(B) gene in women with clonal hematologic disorders and healthy heterozygotes. There was no evidence that G6PD provides a protective effect against the development of hematologic malignancy. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Lee et al. (1981) observed G6PD heterozygosity in female hares. Pretsch et al. (1988) recovered a mouse with X-linked G6PD deficiency from the offspring of 1-ethyl-1-nitrosourea-treated male mice. </p><p>Stockham et al. (1994) observed G6PD deficiency causing persistent hemolytic anemia and hyperbilirubinemia in a male American Saddlebred horse. The dam had abnormalities consistent with heterozygosity. </p><p>Longo et al. (2002) crossed mouse chimeras from embryonic stem cells in which the G6pd gene had been targeted with normal females. First-generation G6pd heterozygotes born from this cross were essentially normal; their tissues demonstrated strong selection for cells with the targeted G6pd allele on the inactive X chromosome. When these first-generation heterozygous females were bred to normal males, only normal G6pd mice were born. There were 3 reasons for this: hemizygous G6pd male embryos' development was arrested from embryonic day 7.5, the time of onset of blood circulation, and they died by embryonic day 10.5; heterozygous G6pd females showed abnormalities from embryonic day 8.5, and died by embryonic day 11.5; and severe pathologic changes were present in the placenta of both G6pd hemizygous and heterozygous embryos. Thus, G6PD is not indispensable for early embryonic development; however, severe G6PD deficiency in the extraembryonic tissues (consequent on selective inactivation of the normal paternal G6PD allele) impairs the development of the placenta and causes death of the embryo. Most importantly, G6PD is indispensable for survival when the embryo is exposed to oxygen through its blood supply. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Cappellini, M. D., Fiorelli, G.
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J. Clin. Invest. 51: 769-778, 1972.
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<strong>Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.</strong>
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Gray, G. R., Stamatoyannopoulos, G., Naiman, S. C., Kliman, M. R., Klebanoff, S. J., Austin, T., Yoshida, A., Robinson, G. C. G.
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<strong>Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase.</strong>
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Lancet 302: 530-534, 1973. Note: Originally Volume II.
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<p class="mim-text-font">
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Kappas, A., Drummond, G. S., Valaes, T.
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<strong>A single dose of Sn-mesoporphyrin prevents development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns.</strong>
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<p class="mim-text-font">
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Lee, K. T., Thomas, W. A., Janakidevi, K., Kroms, M., Reiner, J. M., Borg, K. Y.
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<strong>Mosaicism in female hybrid hares heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD). I. General properties of a hybrid hare model with special reference to atherogenesis.</strong>
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<p class="mim-text-font">
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Longo, L., Vanegas, O. C., Patel, M., Rosti, V., Li, H., Waka, J., Merghoub, T., Pandolfi, P. P., Notaro, R., Manova, K., Luzzatto, L.
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<strong>Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal.</strong>
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<p class="mim-text-font">
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Luzzatto, L., Arese, P.
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<strong>Favism and glucose-6-phosphate dehydrogenase deficiency.</strong>
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New Eng. J. Med. 378: 60-71, 2018.
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Luzzatto, L., Martini, G.
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<p class="mim-text-font">
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Luzzatto, L., Nannelli, C., Notaro, R.
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<strong>Glucose-6-phosphate dehydrogenase deficiency.</strong>
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Hemat. Oncol. Clin. North Am. 30: 373-393, 2016.
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[PubMed: 27040960]
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<li>
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<p class="mim-text-font">
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Luzzatto, L., Usanga, E. A., Bienzle, U., Esan, G. F. J., Fusuan, F. A.
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<strong>Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells.</strong>
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Science 205: 1418-1420, 1979.
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[PubMed: 472761]
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