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Entry
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- #617980 - ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
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- OMIM
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<p>
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<span class="h4">#617980</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/617980"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS133100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</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="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(ERYTHROCYTOSIS, FAMILIAL) OR (HBB)" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=617980[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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111632" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/617980" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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</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 class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>DO:</strong> 0111632<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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617980
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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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ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ERYTHROCYTOSIS, BETA-GLOBIN TYPE<br />
|
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POLYCYTHEMIA, BETA-GLOBIN TYPE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/11/110?start=-3&limit=10&highlight=110">
|
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11p15.4
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Erythrocytosis, familial, 6
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/617980"> 617980 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
|
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HBB
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/141900"> 141900 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/617980" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS133100" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/617980" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/617980" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</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> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Erythrocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127062003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127062003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1527405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527405</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001901</a>]</span><br /> -
|
|
Increased hemoglobin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131141003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131141003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549448</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001900</a>]</span><br /> -
|
|
Increased hematocrit <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165413005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165413005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001899</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001899</a>]</span><br /> -
|
|
Increased red blood cell count <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165424007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165424007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020059</a>]</span><br />
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|
|
</span>
|
|
</div>
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</div>
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Abnormal hemoglobin isoelectrofocusing (IEF) gel electrophoresis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436403</a>]</span><br /> -
|
|
Left-shifted hemoglobin-O2 affinity assay plot <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436404</a>]</span><br /> -
|
|
Low p50 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436405</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High oxygen affinity of hemoglobin<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the hemoglobin beta gene (HBB, <a href="/entry/141900#0006">141900.0006</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Erythrocytosis, familial
|
|
- <a href="/phenotypicSeries/PS133100">PS133100</a>
|
|
- 11 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/1/1801?start=-3&limit=10&highlight=1801"> 1q42.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609820"> Erythrocytosis, familial, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/609820"> 609820 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606425"> EGLN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606425"> 606425 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/228?start=-3&limit=10&highlight=228"> 2p21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611783"> Erythrocytosis, familial, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/611783"> 611783 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603349"> EPAS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603349"> 603349 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/52?start=-3&limit=10&highlight=52"> 3p25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/263400"> Erythrocytosis, familial, 2 </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/263400"> 263400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608537"> VHL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608537"> 608537 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/515?start=-3&limit=10&highlight=515"> 7q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617907"> Erythrocytosis, familial, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/617907"> 617907 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133170"> EPO </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133170"> 133170 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/702?start=-3&limit=10&highlight=702"> 7q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/222800"> Erythrocytosis, familial, 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/222800"> 222800 </a>
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<a href="/entry/613896"> BPGM </a>
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<a href="/entry/613896"> 613896 </a>
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<a href="/geneMap/9/27?start=-3&limit=10&highlight=27"> 9p24.1 </a>
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<span class="mim-font">
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<a href="/entry/133100"> Erythrocytosis, somatic </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/133100"> 133100 </a>
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<a href="/entry/147796"> JAK2 </a>
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<a href="/entry/147796"> 147796 </a>
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<a href="/geneMap/11/110?start=-3&limit=10&highlight=110"> 11p15.4 </a>
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<span class="mim-font">
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<a href="/entry/617980"> Erythrocytosis, familial, 6 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/617980"> 617980 </a>
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<a href="/entry/141900"> 141900 </a>
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<a href="/geneMap/12/812?start=-3&limit=10&highlight=812"> 12q24.12 </a>
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<span class="mim-font">
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<a href="/entry/133100"> Erythrocytosis, somatic </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/133100"> 133100 </a>
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<a href="/entry/605093"> SH2B3 </a>
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<a href="/entry/605093"> 605093 </a>
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<a href="/entry/617981"> Erythrocytosis, familial, 7 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/617981"> 617981 </a>
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<a href="/entry/141850"> HBA2 </a>
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<a href="/entry/141850"> 141850 </a>
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<a href="/geneMap/16/18?start=-3&limit=10&highlight=18"> 16p13.3 </a>
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<span class="mim-font">
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<a href="/entry/617981"> Erythrocytosis, familial, 7 </a>
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<span class="mim-font">
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<a href="/entry/617981"> 617981 </a>
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<a href="/entry/141800"> HBA1 </a>
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<span class="mim-font">
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<a href="/entry/141800"> 141800 </a>
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<a href="/geneMap/19/298?start=-3&limit=10&highlight=298"> 19p13.2 </a>
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<span class="mim-font">
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<a href="/entry/133100"> [Erythrocytosis, familial, 1] </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/133100"> 133100 </a>
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<span class="mim-font">
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<a href="/entry/133171"> EPOR </a>
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<span class="mim-font">
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<a href="/entry/133171"> 133171 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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 autosomal dominant erythrocytosis-6 (ECYT6) is caused by heterozygous mutations in the beta globin gene (HBB; <a href="/entry/141900">141900</a>) that result in a high oxygen affinity hemoglobin.</p>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by <a href="#4" class="mim-tip-reference" title="Kralovics, R., Prchal, J. T. <strong>Congenital and inherited polycythemia.</strong> Curr. Opin. Pediat. 12: 29-34, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10676771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10676771</a>] [<a href="https://doi.org/10.1097/00008480-200002000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10676771">Kralovics and Prchal, 2000</a>). <a href="#7" class="mim-tip-reference" title="Wajcman, H., Galacteros, F. <strong>Hemoglobins with high oxygen affinity leading to erythrocytosis: new variants and new concepts.</strong> Hemoglobin 29: 91-106, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921161</a>]" pmid="15921161">Wajcman and Galacteros (2005)</a> noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. <a href="#7" class="mim-tip-reference" title="Wajcman, H., Galacteros, F. <strong>Hemoglobins with high oxygen affinity leading to erythrocytosis: new variants and new concepts.</strong> Hemoglobin 29: 91-106, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921161</a>]" pmid="15921161">Wajcman and Galacteros (2005)</a> also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see <a href="/entry/617981">617981</a>) is usually milder than that caused by a beta chain variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10676771+15921161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p>In 4 generations of a family of English ancestry, <a href="#3" class="mim-tip-reference" title="Honig, G. R., Vida, L. N., Latorraca, R., Divgi, A. B. <strong>Hb South Milwaukee (beta105 (G7) leu-to-phe): a newly-identified hemoglobin variant with high oxygen affinity.</strong> Am. J. Hemat. 34: 199-203, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363414</a>] [<a href="https://doi.org/10.1002/ajh.2830340308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363414">Honig et al. (1990)</a> found 15 persons with erythrocytosis. Elevated hemoglobin levels were accompanied by leftward-shifted whole blood oxygen equilibrium curves. Phlebotomies for relief of symptoms attributable to erythrocytosis had been necessary in 5 of the affected family members. Oxygen equilibrium curves demonstrated normal Bohr effect but decreased cooperativity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2363414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Portuguese family living in Coimbra, Portugal, <a href="#6" class="mim-tip-reference" title="Tamagnini, G. P., Ribeiro, M. L., Valente, V., Ramachandran, M., Wilson, J. B., Baysal, E., Gu, L.-H., Huisman, T. H. J. <strong>Hb Coimbra or beta-99(G1)asp-to-glu, a newly discovered high oxygen affinity variant.</strong> Hemoglobin 15: 487-496, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1814856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1814856</a>] [<a href="https://doi.org/10.3109/03630269109027896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1814856">Tamagnini et al. (1991)</a> identified a high oxygen affinity hemoglobin variant. Two affected members had erythrocytosis with hemoglobin levels of 18 to 20 g/dl. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1814856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>Erythrocytosis caused by high oxygen affinity Hb variants is inherited in an autosomal dominant manner (<a href="#7" class="mim-tip-reference" title="Wajcman, H., Galacteros, F. <strong>Hemoglobins with high oxygen affinity leading to erythrocytosis: new variants and new concepts.</strong> Hemoglobin 29: 91-106, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921161</a>]" pmid="15921161">Wajcman and Galacteros, 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15921161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Diagnosis</strong>
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<p>Because some high oxygen affinity hemoglobins are electrophoretically silent, the determination of hemoglobin oxygen dissociation kinetics is the best initial screening laboratory test for suspected congenital secondary polycythemia. A decreased P(50) indicates mutant hemoglobin or, even rarer, 2,3-bisphosphoglycerate deficiency (summary by <a href="#4" class="mim-tip-reference" title="Kralovics, R., Prchal, J. T. <strong>Congenital and inherited polycythemia.</strong> Curr. Opin. Pediat. 12: 29-34, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10676771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10676771</a>] [<a href="https://doi.org/10.1097/00008480-200002000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10676771">Kralovics and Prchal, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10676771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The hemoglobin tetramer oscillates between the R (relaxed; fully oxygenated hemoglobin) and T (tense; fully deoxygenated hemoglobin) state of the quaternary protein conformation, requiring the cooperative interaction of globin subunits. Mutations affecting the equilibrium between R and T states result in a change of oxygen affinity. Most of these mutations occur in the alpha1/beta2 interface of the tetramer, but some interfere with the 2,3-bisphosphate binding site, and others occur at the C terminus of one of the globin subunits and interfere with binding of heme (summary by <a href="#4" class="mim-tip-reference" title="Kralovics, R., Prchal, J. T. <strong>Congenital and inherited polycythemia.</strong> Curr. Opin. Pediat. 12: 29-34, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10676771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10676771</a>] [<a href="https://doi.org/10.1097/00008480-200002000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10676771">Kralovics and Prchal, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10676771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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>Erythrocytosis can be a feature of several variant beta globins (<a href="#8" class="mim-tip-reference" title="Weatherall, D. J. <strong>Polycythemia resulting from abnormal hemoglobins.</strong> New Eng. J. Med. 280: 604-606, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5764827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5764827</a>] [<a href="https://doi.org/10.1056/NEJM196903132801107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5764827">Weatherall, 1969</a>); see, e.g., hemoglobins Little Rock (<a href="/entry/141900#0159">141900.0159</a>), Yakima (<a href="/entry/141900#0301">141900.0301</a>), Kempsey (<a href="/entry/141900#0146">141900.0146</a>), Ypsilanti (<a href="/entry/141900#0307">141900.0307</a>), and Hiroshima (<a href="/entry/141900#0110">141900.0110</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5764827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 6 members of a Caucasian family with erythrocytosis, <a href="#5" class="mim-tip-reference" title="Stamatoyannopoulos, G., Yoshida, A., Adamson, J., Heinenberg, S. <strong>Hemoglobin Rainier (beta 145 tyrosine to histidine): alkali-resistant hemoglobin with increased oxygen affinity.</strong> Science 159: 741-743, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17795074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17795074</a>] [<a href="https://doi.org/10.1126/science.159.3816.741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17795074">Stamatoyannopoulos et al. (1968)</a> identified a high oxygen affinity hemoglobin caused by a tyr145-to-his substitution in the HBB gene (Hb Rainier; <a href="/entry/141900#0232">141900.0232</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17795074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals in a family of English ancestry with erythrocytosis, <a href="#3" class="mim-tip-reference" title="Honig, G. R., Vida, L. N., Latorraca, R., Divgi, A. B. <strong>Hb South Milwaukee (beta105 (G7) leu-to-phe): a newly-identified hemoglobin variant with high oxygen affinity.</strong> Am. J. Hemat. 34: 199-203, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363414</a>] [<a href="https://doi.org/10.1002/ajh.2830340308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363414">Honig et al. (1990)</a> identified a leu105-to-phe substitution in the HBB gene (Hb South Milwaukee; <a href="/entry/141900#0391">141900.0391</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2363414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Portuguese family with erythrocytosis, <a href="#6" class="mim-tip-reference" title="Tamagnini, G. P., Ribeiro, M. L., Valente, V., Ramachandran, M., Wilson, J. B., Baysal, E., Gu, L.-H., Huisman, T. H. J. <strong>Hb Coimbra or beta-99(G1)asp-to-glu, a newly discovered high oxygen affinity variant.</strong> Hemoglobin 15: 487-496, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1814856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1814856</a>] [<a href="https://doi.org/10.3109/03630269109027896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1814856">Tamagnini et al. (1991)</a> identified a heterozygous asp99-to-glu mutation in the HBB gene (Hb Coimbra; <a href="/entry/141900#0405">141900.0405</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1814856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Gonzalez Fernandez, F. A., Villegas, A., Ropero, P., Carreno, M. D., Anguita, E., Polo, M., Pascual, A., Henandez, A. <strong>Haemoglobinopathies with high oxygen affinity: experience of erythropathology Cooperative Spanish Group.</strong> Ann. Hemat. 88: 235-238, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18818920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18818920</a>] [<a href="https://doi.org/10.1007/s00277-008-0581-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18818920">Gonzalez Fernandez et al. (2009)</a> noted that 89 Hb variants that show high affinity for oxygen had been described: 18 in the alpha chain and 71 in the beta chain. Two thirds of them are not accompanied by erythrocytosis either because the affinity increase is slight or moderate and only found during in vitro studies or when molecular instability is also present, determining a concomitant hemolysis; or if the mutating gene expression is low, as occurs in the alpha chain variations, or is reduced, as in Hb Crete (<a href="/entry/141900#0058">141900.0058</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18818920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#Geary1967" class="mim-tip-reference" title="Geary, C. G., Amos, H. E., MacIver, J. E. <strong>Benign familial polycythemia.</strong> J. Clin. Path. 20: 158-160, 1967.">Geary et al. (1967)</a>
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Geary, C. G., Amos, H. E., MacIver, J. E.
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<strong>Benign familial polycythemia.</strong>
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J. Clin. Path. 20: 158-160, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5602507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5602507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5602507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jcp.20.2.158" target="_blank">Full Text</a>]
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Gonzalez Fernandez, F. A., Villegas, A., Ropero, P., Carreno, M. D., Anguita, E., Polo, M., Pascual, A., Henandez, A.
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<strong>Haemoglobinopathies with high oxygen affinity: experience of erythropathology Cooperative Spanish Group.</strong>
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Ann. Hemat. 88: 235-238, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18818920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18818920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18818920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Honig, G. R., Vida, L. N., Latorraca, R., Divgi, A. B.
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<strong>Hb South Milwaukee (beta105 (G7) leu-to-phe): a newly-identified hemoglobin variant with high oxygen affinity.</strong>
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Am. J. Hemat. 34: 199-203, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2363414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kralovics, R., Prchal, J. T.
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<strong>Congenital and inherited polycythemia.</strong>
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Curr. Opin. Pediat. 12: 29-34, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10676771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10676771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10676771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Stamatoyannopoulos, G., Yoshida, A., Adamson, J., Heinenberg, S.
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<strong>Hemoglobin Rainier (beta 145 tyrosine to histidine): alkali-resistant hemoglobin with increased oxygen affinity.</strong>
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Science 159: 741-743, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17795074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17795074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17795074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.159.3816.741" target="_blank">Full Text</a>]
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Tamagnini, G. P., Ribeiro, M. L., Valente, V., Ramachandran, M., Wilson, J. B., Baysal, E., Gu, L.-H., Huisman, T. H. J.
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<strong>Hb Coimbra or beta-99(G1)asp-to-glu, a newly discovered high oxygen affinity variant.</strong>
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Hemoglobin 15: 487-496, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1814856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1814856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1814856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/03630269109027896" target="_blank">Full Text</a>]
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<strong>Hemoglobins with high oxygen affinity leading to erythrocytosis: new variants and new concepts.</strong>
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Hemoglobin 29: 91-106, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15921161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15921161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15921161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Polycythemia resulting from abnormal hemoglobins.</strong>
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New Eng. J. Med. 280: 604-606, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5764827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5764827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5764827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM196903132801107" target="_blank">Full Text</a>]
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Carol A. Bocchini : 05/14/2018
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carol : 02/09/2021
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alopez : 11/20/2018<br>carol : 06/15/2018<br>carol : 05/22/2018<br>carol : 05/21/2018
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<strong>#</strong> 617980
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ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
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<em>Alternative titles; symbols</em>
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ERYTHROCYTOSIS, BETA-GLOBIN TYPE<br />
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POLYCYTHEMIA, BETA-GLOBIN TYPE
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<strong>DO:</strong> 0111632;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11p15.4
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<span class="mim-font">
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Erythrocytosis, familial, 6
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<span class="mim-font">
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617980
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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HBB
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141900
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal dominant erythrocytosis-6 (ECYT6) is caused by heterozygous mutations in the beta globin gene (HBB; 141900) that result in a high oxygen affinity hemoglobin.</p>
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<strong>Description</strong>
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<p>Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant. </p>
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<strong>Clinical Features</strong>
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<p>In 4 generations of a family of English ancestry, Honig et al. (1990) found 15 persons with erythrocytosis. Elevated hemoglobin levels were accompanied by leftward-shifted whole blood oxygen equilibrium curves. Phlebotomies for relief of symptoms attributable to erythrocytosis had been necessary in 5 of the affected family members. Oxygen equilibrium curves demonstrated normal Bohr effect but decreased cooperativity. </p><p>In a Portuguese family living in Coimbra, Portugal, Tamagnini et al. (1991) identified a high oxygen affinity hemoglobin variant. Two affected members had erythrocytosis with hemoglobin levels of 18 to 20 g/dl. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Erythrocytosis caused by high oxygen affinity Hb variants is inherited in an autosomal dominant manner (Wajcman and Galacteros, 2005). </p>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p>Because some high oxygen affinity hemoglobins are electrophoretically silent, the determination of hemoglobin oxygen dissociation kinetics is the best initial screening laboratory test for suspected congenital secondary polycythemia. A decreased P(50) indicates mutant hemoglobin or, even rarer, 2,3-bisphosphoglycerate deficiency (summary by Kralovics and Prchal, 2000). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<span class="mim-text-font">
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<p>The hemoglobin tetramer oscillates between the R (relaxed; fully oxygenated hemoglobin) and T (tense; fully deoxygenated hemoglobin) state of the quaternary protein conformation, requiring the cooperative interaction of globin subunits. Mutations affecting the equilibrium between R and T states result in a change of oxygen affinity. Most of these mutations occur in the alpha1/beta2 interface of the tetramer, but some interfere with the 2,3-bisphosphate binding site, and others occur at the C terminus of one of the globin subunits and interfere with binding of heme (summary by Kralovics and Prchal, 2000). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Erythrocytosis can be a feature of several variant beta globins (Weatherall, 1969); see, e.g., hemoglobins Little Rock (141900.0159), Yakima (141900.0301), Kempsey (141900.0146), Ypsilanti (141900.0307), and Hiroshima (141900.0110). </p><p>In 6 members of a Caucasian family with erythrocytosis, Stamatoyannopoulos et al. (1968) identified a high oxygen affinity hemoglobin caused by a tyr145-to-his substitution in the HBB gene (Hb Rainier; 141900.0232). </p><p>In affected individuals in a family of English ancestry with erythrocytosis, Honig et al. (1990) identified a leu105-to-phe substitution in the HBB gene (Hb South Milwaukee; 141900.0391). </p><p>In affected members of a Portuguese family with erythrocytosis, Tamagnini et al. (1991) identified a heterozygous asp99-to-glu mutation in the HBB gene (Hb Coimbra; 141900.0405). </p><p>Gonzalez Fernandez et al. (2009) noted that 89 Hb variants that show high affinity for oxygen had been described: 18 in the alpha chain and 71 in the beta chain. Two thirds of them are not accompanied by erythrocytosis either because the affinity increase is slight or moderate and only found during in vitro studies or when molecular instability is also present, determining a concomitant hemolysis; or if the mutating gene expression is low, as occurs in the alpha chain variations, or is reduced, as in Hb Crete (141900.0058). </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Geary et al. (1967)
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</span>
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<div>
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<br />
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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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<ol>
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<p class="mim-text-font">
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Geary, C. G., Amos, H. E., MacIver, J. E.
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<strong>Benign familial polycythemia.</strong>
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J. Clin. Path. 20: 158-160, 1967.
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[PubMed: 5602507]
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[Full Text: https://doi.org/10.1136/jcp.20.2.158]
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</p>
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<li>
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<p class="mim-text-font">
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Gonzalez Fernandez, F. A., Villegas, A., Ropero, P., Carreno, M. D., Anguita, E., Polo, M., Pascual, A., Henandez, A.
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<strong>Haemoglobinopathies with high oxygen affinity: experience of erythropathology Cooperative Spanish Group.</strong>
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Ann. Hemat. 88: 235-238, 2009.
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[PubMed: 18818920]
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[Full Text: https://doi.org/10.1007/s00277-008-0581-x]
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<p class="mim-text-font">
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Honig, G. R., Vida, L. N., Latorraca, R., Divgi, A. B.
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<strong>Hb South Milwaukee (beta105 (G7) leu-to-phe): a newly-identified hemoglobin variant with high oxygen affinity.</strong>
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Am. J. Hemat. 34: 199-203, 1990.
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[PubMed: 2363414]
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[Full Text: https://doi.org/10.1002/ajh.2830340308]
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<li>
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<p class="mim-text-font">
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Kralovics, R., Prchal, J. T.
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<strong>Congenital and inherited polycythemia.</strong>
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Curr. Opin. Pediat. 12: 29-34, 2000.
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[PubMed: 10676771]
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[Full Text: https://doi.org/10.1097/00008480-200002000-00006]
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</li>
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<li>
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<p class="mim-text-font">
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Stamatoyannopoulos, G., Yoshida, A., Adamson, J., Heinenberg, S.
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<strong>Hemoglobin Rainier (beta 145 tyrosine to histidine): alkali-resistant hemoglobin with increased oxygen affinity.</strong>
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Science 159: 741-743, 1968.
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[PubMed: 17795074]
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[Full Text: https://doi.org/10.1126/science.159.3816.741]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tamagnini, G. P., Ribeiro, M. L., Valente, V., Ramachandran, M., Wilson, J. B., Baysal, E., Gu, L.-H., Huisman, T. H. J.
|
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<strong>Hb Coimbra or beta-99(G1)asp-to-glu, a newly discovered high oxygen affinity variant.</strong>
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Hemoglobin 15: 487-496, 1991.
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[PubMed: 1814856]
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[Full Text: https://doi.org/10.3109/03630269109027896]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wajcman, H., Galacteros, F.
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<strong>Hemoglobins with high oxygen affinity leading to erythrocytosis: new variants and new concepts.</strong>
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Hemoglobin 29: 91-106, 2005.
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[PubMed: 15921161]
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<li>
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<p class="mim-text-font">
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Weatherall, D. J.
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<strong>Polycythemia resulting from abnormal hemoglobins.</strong>
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New Eng. J. Med. 280: 604-606, 1969.
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[PubMed: 5764827]
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[Full Text: https://doi.org/10.1056/NEJM196903132801107]
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 05/14/2018
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/09/2021<br>alopez : 11/20/2018<br>carol : 06/15/2018<br>carol : 05/22/2018<br>carol : 05/21/2018
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