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<title>
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Entry
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- #185020 - CRYOHYDROCYTOSIS; CHC
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- OMIM
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<span class="h4">#185020</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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/185020"><strong>Clinical Synopsis</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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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#pathogenesis">Pathogenesis</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="#contributors"><strong>Contributors</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>
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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=(CRYOHYDROCYTOSIS) OR (SLC4A1)" 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=22723&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.diseaseinfosearch.org/x/6031" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=185020[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398088" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://omia.org/OMIA001178/" 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>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 398088<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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185020
|
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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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CRYOHYDROCYTOSIS; CHC
|
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
STOMATOCYTOSIS, COLD-SENSITIVE
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
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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</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/17/635?start=-3&limit=10&highlight=635">
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17q21.31
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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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Cryohydrocytosis
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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/185020"> 185020 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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SLC4A1
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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/109270"> 109270 </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 class="btn-group ">
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<a href="/clinicalSynopsis/185020" 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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<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/185020" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/185020" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<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">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<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">
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<strong> ABDOMEN </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Spleen </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Splenomegaly <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 />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEMATOLOGY </strong>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
- Hemolytic anemia, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231331&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231331</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span><br /> -
|
|
Increased reticulocyte count <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>, <a href="https://bioportal.bioontology.org/search?q=C0853718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853718</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 /> -
|
|
Stomatocytosis, cold-sensitive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861453</a>]</span><br /> -
|
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Macrospherocytosis on cold storage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231330</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">
|
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<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Pseudohyperkalemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:4000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:4000194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:4000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:4000194</a>]</span><br /> -
|
|
Increased autohemolysis and increased osmotic fragility at 5 degrees compared to 37 degrees C <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231332</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>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Patients are often misdiagnosed with spherocytosis<br /> -
|
|
Increased risk of post-splenectomy thrombotic complications<br />
|
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|
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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> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Caused by mutation in the solute carrier family 4, anion exchanger, member 1 gene (SLC4A1, <a href="/entry/109270#0033">109270.0033</a>)<br />
|
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|
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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>
|
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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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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that cryohydrocytosis (CHC) is caused by heterozygous mutation in the SLC4A1 gene (<a href="/entry/109270">109270</a>) on chromosome 17q21.</p><p>Heterozygous mutation in SLC4A1 can also cause Southeast Asian ovalocytosis (<a href="/entry/166900">166900</a>) and spherocytosis-4 (SPH4; <a href="/entry/612653">612653</a>).</p>
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</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Cryohydrocytosis (CHC) is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by <a href="#5" class="mim-tip-reference" title="Coles, S. E., Chetty, M. C., Ho, M. M., Nicolaou, A., Kearney, J. W., Wright, S. D., Stewart, G. W. <strong>Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 105: 1055-1065, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10554820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10554820</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01444.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10554820">Coles et al., 1999</a>). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by <a href="#2" class="mim-tip-reference" title="Bogdanova, A., Goede, J. S., Weiss, E., Bogdanov, N., Bennekou, P., Bernhardt, I., Lutz, H. U. <strong>Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.</strong> Haematologica 95: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20015879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20015879</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20015879[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/10.3324/haematol.2009.010215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20015879">Bogdanova et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20015879+10554820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see <a href="/entry/194380">194380</a>.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p><a href="#10" class="mim-tip-reference" title="Miller, G., Townes, P. L., MacWhinney, J. B. <strong>A new congenital hemolytic anemia with deformed erythrocytes ('stomatocytes') and remarkable susceptibility of erythrocytes to cold hemolysis in vitro. I. Clinical and hematological studies.</strong> Pediatrics 35: 906-915, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14296416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14296416</a>]" pmid="14296416">Miller et al. (1965)</a> described a 19-year-old man who presented with jaundice and splenomegaly at age 13 years and was found to have moderately severe hemolytic anemia. Splenectomy resulted in clinical improvement, but did not completely resolve the hemolytic anemia. Further investigation revealed stomatocytosis characterized by increased autohemolysis and increased osmotic fragility at 5 degrees compared to 37 degrees C. The parents and a sib were unaffected. The man subsequently sired a son with the same disorder (<a href="#11" class="mim-tip-reference" title="Townes, P. L., Miller, G. <strong>Further studies of cold-sensitive variant of stomatocytosis. (Abstract)</strong> Am. J. Hum. Genet. 32: 57A only, 1980."None>Townes and Miller, 1980</a>). Cold-sensitive hemolysis was prevented by reduced pH or increased ATP. Since correction was not correlated with glucose metabolism or intracellular levels of ATP, a membrane defect was suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14296416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Alani, F. S. S., Dyer, T., Hindle, E., Newsome, D. A., Ormerod, L. P., Mahoney, M. P. <strong>Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family.</strong> Postgrad. Med. J. 70: 749-751, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7831176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7831176</a>] [<a href="https://doi.org/10.1136/pgmj.70.828.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7831176">Alani et al. (1994)</a> reported a British family from Blackburn with a previous diagnosis of spherocytosis (SPH; see <a href="/entry/182900">182900</a>) in which the proband, 2 of his sibs, and his son exhibited temperature-sensitive pseudohyperkalemia. The proband, who had already undergone splenectomy, presented at age 40 years with shortness of breath and was found to have multiple pulmonary emboli. Serum samples showed varying levels of hyperkalemia but there were no features of hyperkalemia on electrocardiogram, suggesting pseudohyperkalemia. Further analysis confirmed pseudohyperkalemia, which was related to the time between sampling and cell separation, and inversely related to the temperature at which the specimen was left to stand before cell separation. Temperature-sensitive pseudohyperkalemia was also demonstrated in the proband's 2 sibs with SPH and in 1 affected son, but not in the proband's wife or in another son who did not have SPH. The authors noted that because hereditary spherocytosis is not rare and pseudohyperkalemia had not previously been reported in association with it, the presence of both in this family might have occurred by chance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7831176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Coles, S. E., Ho, M. M., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.</strong> Brit. J. Haemat. 104: 275-283, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10050708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10050708</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01191.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10050708">Coles et al. (1999)</a> restudied the family from Blackburn that had been reported by <a href="#1" class="mim-tip-reference" title="Alani, F. S. S., Dyer, T., Hindle, E., Newsome, D. A., Ormerod, L. P., Mahoney, M. P. <strong>Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family.</strong> Postgrad. Med. J. 70: 749-751, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7831176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7831176</a>] [<a href="https://doi.org/10.1136/pgmj.70.828.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7831176">Alani et al. (1994)</a>. The pedigree then included all 3 sibs of the original proband, their father and paternal grandfather, as well as 2 children of 1 of the proband's affected sisters. Blood films of affected family members revealed stomatocytosis; the authors stated that all families known to them with stomatocytosis had at some stage been diagnosed with 'atypical hereditary spherocytosis.' Hematologic analysis showed marked abnormalities of intracellular sodium and potassium levels in fresh cells, intermediate in severity between those seen in overhydrated and dehydrated stomatocytosis. Results were consistent with a primary abnormality in the leak fluxes and a compensatory abnormality in the NaK pump, as seen in other stomatocytic disease. <a href="#6" class="mim-tip-reference" title="Coles, S. E., Ho, M. M., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.</strong> Brit. J. Haemat. 104: 275-283, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10050708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10050708</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01191.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10050708">Coles et al. (1999)</a> noted that red cells in this family did show excessive lysis in the cold and as such could be considered to be a form of 'cryohydrocytosis.' The original proband, who was the only member of the pedigree to be splenectomized, died at age 51 of pulmonary hypertension, which the authors stated was likely due to postsplenectomy thrombotic complications that are typical of the hereditary stomatocytoses. In a footnote, the authors noted that the proband's father had also been advised to undergo splenectomy, which was delayed when hyperkalemia was discovered preoperatively; the father, a 'doughty Lancastrian,' refused to return for the surgery and 'lived to enjoy a happy retirement.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10050708+7831176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Coles, S. E., Chetty, M. C., Ho, M. M., Nicolaou, A., Kearney, J. W., Wright, S. D., Stewart, G. W. <strong>Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 105: 1055-1065, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10554820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10554820</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01444.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10554820">Coles et al. (1999)</a> described 2 British families with a similar, dominantly inherited, temperature-related variant of hereditary stomatocytosis, consistent with the original description of cold-sensitive stomatocytosis (cryohydrocytosis). The cells showed a 5- to 6-fold increase in passive permeability at 37 degrees centigrade with abnormal intracellular sodium and potassium levels at 15-20 and 60-65 mmol per liter cells, respectively. Marked temperature effects were evident: lysis of red cells on storage in the cold was blatant and when whole heparinized blood was stored at room temperature, potassium accumulated in the plasma, producing 'pseudohyperkalemia.' Studies of the temperature dependence of passive permeability showed that the minimum in the passive permeability, which was seen in normal cells at 8-10 degrees centigrade, was shifted up to 23 degrees centigrade in these abnormal cells, such that the permeability at 0 degrees centigrade exceeded that at 37 degrees centigrade. The abnormal temperature dependence in patient red cells strongly resembled that seen in normal cells when suspended in media in which either sodium or chloride ions had been replaced by an organic cation or anion. It was suggested that these cells have a genetic mutation that somehow rendered the cells resistant to the stabilizing effect of NaCl at low temperatures. In their patients, <a href="#5" class="mim-tip-reference" title="Coles, S. E., Chetty, M. C., Ho, M. M., Nicolaou, A., Kearney, J. W., Wright, S. D., Stewart, G. W. <strong>Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 105: 1055-1065, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10554820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10554820</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01444.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10554820">Coles et al. (1999)</a> found that the 31-kD integral membrane protein stomatin (STOM; <a href="/entry/133090">133090</a>) was present in the red cell membranes in all cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10554820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Haines, P. G., Jarvis, H. G., King, S., Noormohamed, F. H., Chetty, M. C., Fisher, J., Hill, P., Nicolaou, A., Stewart, G. W. <strong>Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 113: 932-937, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11442486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11442486</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.02792.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11442486">Haines et al. (2001)</a> reported 2 more British families with the cryohydrocytosis form of hereditary stomatocytosis. Both exhibited a mild stomatocytic anemia, with very marked autohemolysis at refrigerator temperatures and pseudohyperkalemia due to loss of potassium from red cells on storage at room temperature. Results of cation flux analysis were characteristic of leaky red cells and showed a U-shaped temperature dependence. Affected members of both families had initially been diagnosed as 'spherocytic;' <a href="#9" class="mim-tip-reference" title="Haines, P. G., Jarvis, H. G., King, S., Noormohamed, F. H., Chetty, M. C., Fisher, J., Hill, P., Nicolaou, A., Stewart, G. W. <strong>Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 113: 932-937, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11442486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11442486</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.02792.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11442486">Haines et al. (2001)</a> noted that the morphology of fresh specimens showed approximately 20% stomatocytes with many spherocytes as well, but cold storage of the red cells resulted in a marked increase in osmotic fragility and a predominance of macrospherocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11442486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#8" class="mim-tip-reference" title="Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong> Brit. J. Haemat. 125: 521-527, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142123</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04944.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142123">Gore et al. (2004)</a> reported 4 British pedigrees with disorders of the 'cation-leaky hereditary stomatocytosis class' and pseudohyperkalemia. Three of the pedigrees were frankly hemolytic, whereas the fourth showed normal hematology (see FP East London, in <a href="/entry/609153">609153</a>). The authors stated that the naming of these diseases, which had traditionally been collected under the designation 'hereditary stomatocytoses and allied disorders,' was problematic. They noted that frank stomatocytosis was present in only 1 pedigree, from Darlington, which also exhibited a 'shallow slope' profile of temperature-dependent potassium flux resembling that seen in the previously reported Edinburgh and Blackburn pedigrees. The Darlington proband, a farmer who had undergone splenectomy at age 22 years for a presumed diagnosis of 'atypical spherocytosis,' developed severe thrombosis of the superficial femoral vein at age 40. <a href="#8" class="mim-tip-reference" title="Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong> Brit. J. Haemat. 125: 521-527, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142123</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04944.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142123">Gore et al. (2004)</a> noted that patients with the shallow-slope profile were particularly susceptible to thrombosis, even without splenectomy. In a family from Birmingham as well as a proband from Middlesborough, who was previously reported by <a href="#12" class="mim-tip-reference" title="Vaidya, B., Chan, K., Drury, J., Connolly, V. <strong>A race to the lab.</strong> Lancet 359: 848 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11897285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11897285</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)07956-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11897285">Vaidya et al. (2002)</a>, a dehydrated picture with target cells on blood films was seen; <a href="#8" class="mim-tip-reference" title="Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong> Brit. J. Haemat. 125: 521-527, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142123</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04944.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142123">Gore et al. (2004)</a> stated that these 2 pedigrees could be classified as examples of 'hereditary xerocytosis' or 'dessicocytosis,' and noted that affected individuals from both families exhibited a novel pattern of temperature-dependent potassium flux. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15142123+11897285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Bogdanova, A., Goede, J. S., Weiss, E., Bogdanov, N., Bennekou, P., Bernhardt, I., Lutz, H. U. <strong>Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.</strong> Haematologica 95: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20015879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20015879</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20015879[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/10.3324/haematol.2009.010215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20015879">Bogdanova et al. (2010)</a> studied a 44-year-old Swiss man from Zurich with cryohydrocytosis, in whom <a href="#3" class="mim-tip-reference" title="Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W. <strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong> Nature Genet. 37: 1258-1263, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227998</a>] [<a href="https://doi.org/10.1038/ng1656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227998">Bruce et al. (2005)</a> had identified a mutation in the SLC4A1 gene (patient 'CHC6;' see <a href="/entry/109270#0034">109270.0034</a>). The patient presented at age 29 with fatigue and dizziness. Examination revealed splenomegaly, and hematologic analysis showed reticulocytosis of 128%, with 14% hyperchromic erythrocytes; peripheral blood smear showed microcytic anisocytosis with spherocytes as well as rare macrocytes and stomatocytes. Hereditary spherocytosis was suspected and he underwent cholecystectomy and splenectomy, but a mild hemolytic state persisted postoperatively, with 40 to 60% reticulocytes and 30 to 70% hyperchromic erythrocytes. Further investigation revealed a red cell potassium leak that was 8-fold higher than control and a 2- to 3-fold increase in activity of the sodium/potassium pump, resulting in a diagnosis of cryohydrocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20015879+16227998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Temperature-Dependent Potassium Flux Patterns</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Carella, M., d'Adamo, A. P., Grootenboer-Mignot, S., Vantyghem, M. C., Esposito, L., D'Eustacchio, A., Ficarella, R., Stewart, G. W., Gasparini, P., Delaunay, J., Iolascon, A. <strong>A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.</strong> Europ. J. Hum. Genet. 12: 1073-1076, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15470366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15470366</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15470366">Carella et al. (2004)</a> noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh (see <a href="/entry/194380">194380</a>), in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see <a href="/entry/609153">609153</a>), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see <a href="/entry/609153">609153</a>), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. <a href="#8" class="mim-tip-reference" title="Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong> Brit. J. Haemat. 125: 521-527, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142123</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04944.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142123">Gore et al. (2004)</a> stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as within affected members of a pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15470366+15142123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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 transmission pattern of CHC in the families reported by <a href="#3" class="mim-tip-reference" title="Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W. <strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong> Nature Genet. 37: 1258-1263, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227998</a>] [<a href="https://doi.org/10.1038/ng1656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227998">Bruce et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#3" class="mim-tip-reference" title="Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W. <strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong> Nature Genet. 37: 1258-1263, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227998</a>] [<a href="https://doi.org/10.1038/ng1656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227998">Bruce et al. (2005)</a> studied 11 pedigrees with dominantly inherited hemolytic anemias, 3 spherocytic (see SPH4, <a href="/entry/612653">612653</a>) and 8 stomatocytic, including families previously reported by Coles et al. (<a href="#5" class="mim-tip-reference" title="Coles, S. E., Chetty, M. C., Ho, M. M., Nicolaou, A., Kearney, J. W., Wright, S. D., Stewart, G. W. <strong>Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 105: 1055-1065, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10554820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10554820</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01444.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10554820">1999</a>, <a href="#6" class="mim-tip-reference" title="Coles, S. E., Ho, M. M., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.</strong> Brit. J. Haemat. 104: 275-283, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10050708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10050708</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01191.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10050708">1999</a>), <a href="#9" class="mim-tip-reference" title="Haines, P. G., Jarvis, H. G., King, S., Noormohamed, F. H., Chetty, M. C., Fisher, J., Hill, P., Nicolaou, A., Stewart, G. W. <strong>Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong> Brit. J. Haemat. 113: 932-937, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11442486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11442486</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.02792.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11442486">Haines et al. (2001)</a>, and <a href="#8" class="mim-tip-reference" title="Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W. <strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong> Brit. J. Haemat. 125: 521-527, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142123</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04944.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142123">Gore et al. (2004)</a>. Affected individuals from each of the families exhibited an increase in red cell membrane permeability to sodium and potassium that was particularly marked at 0 degrees centigrade, but had normal stomatin levels in the membrane. Sequencing of the SLC4A1 gene revealed 5 different heterozygous missense mutations that segregated fully with disease in all of the families (see, e.g., <a href="/entry/109270#0028">109270.0028</a> and <a href="/entry/109270#0033">109270.0033</a>-<a href="/entry/109270#0035">109270.0035</a>). <a href="#3" class="mim-tip-reference" title="Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W. <strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong> Nature Genet. 37: 1258-1263, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227998</a>] [<a href="https://doi.org/10.1038/ng1656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227998">Bruce et al. (2005)</a> noted that unlike stomatin-deficient patients with cryohydrocytosis who show neurologic defects (see <a href="/entry/608885">608885</a>), no neurologic problems were present in patients with cryohydrocytosis due to mutation in the SLC4A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15142123+10050708+11442486+10554820+16227998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#2" class="mim-tip-reference" title="Bogdanova, A., Goede, J. S., Weiss, E., Bogdanov, N., Bennekou, P., Bernhardt, I., Lutz, H. U. <strong>Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.</strong> Haematologica 95: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20015879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20015879</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20015879[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/10.3324/haematol.2009.010215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20015879">Bogdanova et al. (2010)</a> studied red blood cells (RBCs) from a Swiss man with cryohydrocytosis and a mutation in the SLC4A1 gene (<a href="/entry/109270#0034">109270.0034</a>), previously reported by <a href="#3" class="mim-tip-reference" title="Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W. <strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong> Nature Genet. 37: 1258-1263, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227998</a>] [<a href="https://doi.org/10.1038/ng1656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227998">Bruce et al. (2005)</a> (patient 'CHC6'). At cold temperatures, the RBCs swelled in KCl-containing media but not in NaCl-containing or KNO(3)-containing media, indicating that volume changes were mediated by an anion-coupled cation transporter. In NaCl-containing media, net HOE642-sensitive Na(+)/K(+) exchange prevailed, whereas in KCl-containing media, swelling was mediated by a Cl-dependent K(+) uptake. Unidirectional K(+) influx measurements showed that the patient's cells had abnormally high activities of the K(+)Na(+)/H(+) exchanger (KNHE) and the K(+),Cl(-) cotransporter (KCC), which could account for the observed net movements of cations. Neither chloride nor cation conductance in patient RBCs differed from that of healthy donors. <a href="#2" class="mim-tip-reference" title="Bogdanova, A., Goede, J. S., Weiss, E., Bogdanov, N., Bennekou, P., Bernhardt, I., Lutz, H. U. <strong>Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.</strong> Haematologica 95: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20015879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20015879</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20015879[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/10.3324/haematol.2009.010215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20015879">Bogdanova et al. (2010)</a> stated that their findings demonstrated that the KCC and KNHE contribute to the alterations in cell volume, deformability, and density of patient RBCs, and concluded that red cell dehydration resulting in high-density RBCs is the primary phenomenon of CHC, both in vivo and when cells are stored at room temperature. The authors suggested that crosstalk between the SLC4A1 mutant and other transporters might increase cation permeability in cryohydrocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20015879+16227998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-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="#Gore2002" class="mim-tip-reference" title="Gore, D. M., Chetty, M. C., Coles, S. C., Gover, P. M., Stewart G. W. <strong>Hereditary spherocytosis with a low temperature Na/K leak and thrombosis. (Abstract)</strong> Brit. J. Haemat. 117 Suppl 1: 9-10, 2002.">Gore et al. (2002)</a>
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Alani, F. S. S., Dyer, T., Hindle, E., Newsome, D. A., Ormerod, L. P., Mahoney, M. P.
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<strong>Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family.</strong>
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Postgrad. Med. J. 70: 749-751, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7831176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7831176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7831176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bogdanova, A., Goede, J. S., Weiss, E., Bogdanov, N., Bennekou, P., Bernhardt, I., Lutz, H. U.
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<strong>Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.</strong>
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Haematologica 95: 189-198, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20015879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20015879</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20015879[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20015879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W.
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<strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong>
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Nature Genet. 37: 1258-1263, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1656" target="_blank">Full Text</a>]
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Carella, M., d'Adamo, A. P., Grootenboer-Mignot, S., Vantyghem, M. C., Esposito, L., D'Eustacchio, A., Ficarella, R., Stewart, G. W., Gasparini, P., Delaunay, J., Iolascon, A.
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<strong>A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.</strong>
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Europ. J. Hum. Genet. 12: 1073-1076, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15470366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15470366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15470366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201280" target="_blank">Full Text</a>]
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Coles, S. E., Chetty, M. C., Ho, M. M., Nicolaou, A., Kearney, J. W., Wright, S. D., Stewart, G. W.
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<strong>Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong>
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Brit. J. Haemat. 105: 1055-1065, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10554820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10554820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10554820" target="_blank" onclick="gtag('event', '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.1365-2141.1999.01444.x" target="_blank">Full Text</a>]
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<strong>A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.</strong>
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Brit. J. Haemat. 104: 275-283, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10050708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10050708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10050708" target="_blank" onclick="gtag('event', '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.1365-2141.1999.01191.x" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Gore2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gore, D. M., Chetty, M. C., Coles, S. C., Gover, P. M., Stewart G. W.
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<strong>Hereditary spherocytosis with a low temperature Na/K leak and thrombosis. (Abstract)</strong>
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Brit. J. Haemat. 117 Suppl 1: 9-10, 2002.
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<a id="8" class="mim-anchor"></a>
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<a id="Gore2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W.
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<strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong>
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Brit. J. Haemat. 125: 521-527, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15142123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2004.04944.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Haines2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Haines, P. G., Jarvis, H. G., King, S., Noormohamed, F. H., Chetty, M. C., Fisher, J., Hill, P., Nicolaou, A., Stewart, G. W.
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<strong>Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong>
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Brit. J. Haemat. 113: 932-937, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11442486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11442486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11442486" target="_blank" onclick="gtag('event', '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.1365-2141.2001.02792.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Miller1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miller, G., Townes, P. L., MacWhinney, J. B.
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<strong>A new congenital hemolytic anemia with deformed erythrocytes ('stomatocytes') and remarkable susceptibility of erythrocytes to cold hemolysis in vitro. I. Clinical and hematological studies.</strong>
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Pediatrics 35: 906-915, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14296416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14296416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14296416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Townes1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Townes, P. L., Miller, G.
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<strong>Further studies of cold-sensitive variant of stomatocytosis. (Abstract)</strong>
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Am. J. Hum. Genet. 32: 57A only, 1980.
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</p>
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<a id="12" class="mim-anchor"></a>
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<a id="Vaidya2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vaidya, B., Chan, K., Drury, J., Connolly, V.
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<strong>A race to the lab.</strong>
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Lancet 359: 848 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11897285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11897285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11897285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(02)07956-4" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/7/2015
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 11/4/1999
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/20/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/12/2016<br>carol : 12/16/2015<br>carol : 12/7/2015<br>carol : 12/7/2015<br>carol : 7/12/2013<br>carol : 1/12/2005<br>tkritzer : 8/30/2004<br>alopez : 11/9/1999<br>terry : 11/4/1999<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 10/18/1986
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 185020
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<h3>
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CRYOHYDROCYTOSIS; CHC
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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STOMATOCYTOSIS, COLD-SENSITIVE
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<strong>ORPHA:</strong> 398088;
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</span>
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17q21.31
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<td>
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<span class="mim-font">
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Cryohydrocytosis
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<td>
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<span class="mim-font">
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185020
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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SLC4A1
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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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109270
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that cryohydrocytosis (CHC) is caused by heterozygous mutation in the SLC4A1 gene (109270) on chromosome 17q21.</p><p>Heterozygous mutation in SLC4A1 can also cause Southeast Asian ovalocytosis (166900) and spherocytosis-4 (SPH4; 612653).</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Cryohydrocytosis (CHC) is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010). </p><p>For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Miller et al. (1965) described a 19-year-old man who presented with jaundice and splenomegaly at age 13 years and was found to have moderately severe hemolytic anemia. Splenectomy resulted in clinical improvement, but did not completely resolve the hemolytic anemia. Further investigation revealed stomatocytosis characterized by increased autohemolysis and increased osmotic fragility at 5 degrees compared to 37 degrees C. The parents and a sib were unaffected. The man subsequently sired a son with the same disorder (Townes and Miller, 1980). Cold-sensitive hemolysis was prevented by reduced pH or increased ATP. Since correction was not correlated with glucose metabolism or intracellular levels of ATP, a membrane defect was suggested. </p><p>Alani et al. (1994) reported a British family from Blackburn with a previous diagnosis of spherocytosis (SPH; see 182900) in which the proband, 2 of his sibs, and his son exhibited temperature-sensitive pseudohyperkalemia. The proband, who had already undergone splenectomy, presented at age 40 years with shortness of breath and was found to have multiple pulmonary emboli. Serum samples showed varying levels of hyperkalemia but there were no features of hyperkalemia on electrocardiogram, suggesting pseudohyperkalemia. Further analysis confirmed pseudohyperkalemia, which was related to the time between sampling and cell separation, and inversely related to the temperature at which the specimen was left to stand before cell separation. Temperature-sensitive pseudohyperkalemia was also demonstrated in the proband's 2 sibs with SPH and in 1 affected son, but not in the proband's wife or in another son who did not have SPH. The authors noted that because hereditary spherocytosis is not rare and pseudohyperkalemia had not previously been reported in association with it, the presence of both in this family might have occurred by chance. </p><p>Coles et al. (1999) restudied the family from Blackburn that had been reported by Alani et al. (1994). The pedigree then included all 3 sibs of the original proband, their father and paternal grandfather, as well as 2 children of 1 of the proband's affected sisters. Blood films of affected family members revealed stomatocytosis; the authors stated that all families known to them with stomatocytosis had at some stage been diagnosed with 'atypical hereditary spherocytosis.' Hematologic analysis showed marked abnormalities of intracellular sodium and potassium levels in fresh cells, intermediate in severity between those seen in overhydrated and dehydrated stomatocytosis. Results were consistent with a primary abnormality in the leak fluxes and a compensatory abnormality in the NaK pump, as seen in other stomatocytic disease. Coles et al. (1999) noted that red cells in this family did show excessive lysis in the cold and as such could be considered to be a form of 'cryohydrocytosis.' The original proband, who was the only member of the pedigree to be splenectomized, died at age 51 of pulmonary hypertension, which the authors stated was likely due to postsplenectomy thrombotic complications that are typical of the hereditary stomatocytoses. In a footnote, the authors noted that the proband's father had also been advised to undergo splenectomy, which was delayed when hyperkalemia was discovered preoperatively; the father, a 'doughty Lancastrian,' refused to return for the surgery and 'lived to enjoy a happy retirement.' </p><p>Coles et al. (1999) described 2 British families with a similar, dominantly inherited, temperature-related variant of hereditary stomatocytosis, consistent with the original description of cold-sensitive stomatocytosis (cryohydrocytosis). The cells showed a 5- to 6-fold increase in passive permeability at 37 degrees centigrade with abnormal intracellular sodium and potassium levels at 15-20 and 60-65 mmol per liter cells, respectively. Marked temperature effects were evident: lysis of red cells on storage in the cold was blatant and when whole heparinized blood was stored at room temperature, potassium accumulated in the plasma, producing 'pseudohyperkalemia.' Studies of the temperature dependence of passive permeability showed that the minimum in the passive permeability, which was seen in normal cells at 8-10 degrees centigrade, was shifted up to 23 degrees centigrade in these abnormal cells, such that the permeability at 0 degrees centigrade exceeded that at 37 degrees centigrade. The abnormal temperature dependence in patient red cells strongly resembled that seen in normal cells when suspended in media in which either sodium or chloride ions had been replaced by an organic cation or anion. It was suggested that these cells have a genetic mutation that somehow rendered the cells resistant to the stabilizing effect of NaCl at low temperatures. In their patients, Coles et al. (1999) found that the 31-kD integral membrane protein stomatin (STOM; 133090) was present in the red cell membranes in all cases. </p><p>Haines et al. (2001) reported 2 more British families with the cryohydrocytosis form of hereditary stomatocytosis. Both exhibited a mild stomatocytic anemia, with very marked autohemolysis at refrigerator temperatures and pseudohyperkalemia due to loss of potassium from red cells on storage at room temperature. Results of cation flux analysis were characteristic of leaky red cells and showed a U-shaped temperature dependence. Affected members of both families had initially been diagnosed as 'spherocytic;' Haines et al. (2001) noted that the morphology of fresh specimens showed approximately 20% stomatocytes with many spherocytes as well, but cold storage of the red cells resulted in a marked increase in osmotic fragility and a predominance of macrospherocytes. </p><p>Gore et al. (2004) reported 4 British pedigrees with disorders of the 'cation-leaky hereditary stomatocytosis class' and pseudohyperkalemia. Three of the pedigrees were frankly hemolytic, whereas the fourth showed normal hematology (see FP East London, in 609153). The authors stated that the naming of these diseases, which had traditionally been collected under the designation 'hereditary stomatocytoses and allied disorders,' was problematic. They noted that frank stomatocytosis was present in only 1 pedigree, from Darlington, which also exhibited a 'shallow slope' profile of temperature-dependent potassium flux resembling that seen in the previously reported Edinburgh and Blackburn pedigrees. The Darlington proband, a farmer who had undergone splenectomy at age 22 years for a presumed diagnosis of 'atypical spherocytosis,' developed severe thrombosis of the superficial femoral vein at age 40. Gore et al. (2004) noted that patients with the shallow-slope profile were particularly susceptible to thrombosis, even without splenectomy. In a family from Birmingham as well as a proband from Middlesborough, who was previously reported by Vaidya et al. (2002), a dehydrated picture with target cells on blood films was seen; Gore et al. (2004) stated that these 2 pedigrees could be classified as examples of 'hereditary xerocytosis' or 'dessicocytosis,' and noted that affected individuals from both families exhibited a novel pattern of temperature-dependent potassium flux. </p><p>Bogdanova et al. (2010) studied a 44-year-old Swiss man from Zurich with cryohydrocytosis, in whom Bruce et al. (2005) had identified a mutation in the SLC4A1 gene (patient 'CHC6;' see 109270.0034). The patient presented at age 29 with fatigue and dizziness. Examination revealed splenomegaly, and hematologic analysis showed reticulocytosis of 128%, with 14% hyperchromic erythrocytes; peripheral blood smear showed microcytic anisocytosis with spherocytes as well as rare macrocytes and stomatocytes. Hereditary spherocytosis was suspected and he underwent cholecystectomy and splenectomy, but a mild hemolytic state persisted postoperatively, with 40 to 60% reticulocytes and 30 to 70% hyperchromic erythrocytes. Further investigation revealed a red cell potassium leak that was 8-fold higher than control and a 2- to 3-fold increase in activity of the sodium/potassium pump, resulting in a diagnosis of cryohydrocytosis. </p><p><strong><em>Temperature-Dependent Potassium Flux Patterns</em></strong></p><p>
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Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh (see 194380), in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see 609153), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see 609153), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as within affected members of a pedigree. </p>
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<p>The transmission pattern of CHC in the families reported by Bruce et al. (2005) was consistent with autosomal dominant inheritance. </p>
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<p>Bruce et al. (2005) studied 11 pedigrees with dominantly inherited hemolytic anemias, 3 spherocytic (see SPH4, 612653) and 8 stomatocytic, including families previously reported by Coles et al. (1999, 1999), Haines et al. (2001), and Gore et al. (2004). Affected individuals from each of the families exhibited an increase in red cell membrane permeability to sodium and potassium that was particularly marked at 0 degrees centigrade, but had normal stomatin levels in the membrane. Sequencing of the SLC4A1 gene revealed 5 different heterozygous missense mutations that segregated fully with disease in all of the families (see, e.g., 109270.0028 and 109270.0033-109270.0035). Bruce et al. (2005) noted that unlike stomatin-deficient patients with cryohydrocytosis who show neurologic defects (see 608885), no neurologic problems were present in patients with cryohydrocytosis due to mutation in the SLC4A1 gene. </p>
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<p>Bogdanova et al. (2010) studied red blood cells (RBCs) from a Swiss man with cryohydrocytosis and a mutation in the SLC4A1 gene (109270.0034), previously reported by Bruce et al. (2005) (patient 'CHC6'). At cold temperatures, the RBCs swelled in KCl-containing media but not in NaCl-containing or KNO(3)-containing media, indicating that volume changes were mediated by an anion-coupled cation transporter. In NaCl-containing media, net HOE642-sensitive Na(+)/K(+) exchange prevailed, whereas in KCl-containing media, swelling was mediated by a Cl-dependent K(+) uptake. Unidirectional K(+) influx measurements showed that the patient's cells had abnormally high activities of the K(+)Na(+)/H(+) exchanger (KNHE) and the K(+),Cl(-) cotransporter (KCC), which could account for the observed net movements of cations. Neither chloride nor cation conductance in patient RBCs differed from that of healthy donors. Bogdanova et al. (2010) stated that their findings demonstrated that the KCC and KNHE contribute to the alterations in cell volume, deformability, and density of patient RBCs, and concluded that red cell dehydration resulting in high-density RBCs is the primary phenomenon of CHC, both in vivo and when cells are stored at room temperature. The authors suggested that crosstalk between the SLC4A1 mutant and other transporters might increase cation permeability in cryohydrocytosis. </p>
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Gore et al. (2002)
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<strong>REFERENCES</strong>
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Alani, F. S. S., Dyer, T., Hindle, E., Newsome, D. A., Ormerod, L. P., Mahoney, M. P.
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<strong>Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family.</strong>
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Postgrad. Med. J. 70: 749-751, 1994.
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[PubMed: 7831176]
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[Full Text: https://doi.org/10.1136/pgmj.70.828.749]
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Bogdanova, A., Goede, J. S., Weiss, E., Bogdanov, N., Bennekou, P., Bernhardt, I., Lutz, H. U.
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<strong>Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.</strong>
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Haematologica 95: 189-198, 2010.
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[PubMed: 20015879]
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[Full Text: https://doi.org/10.3324/haematol.2009.010215]
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Bruce, L. J., Robinson, H. C., Guizouarn, H., Borgese, F., Harrison, P., King, M.-J., Goede, J. S., Coles, S. E., Gore, D. M., Lutz, H. U., Ficarella, R., Layton, D. M., Iolascon, A., Ellory, J. C., Stewart, G. W.
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<strong>Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.</strong>
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Nature Genet. 37: 1258-1263, 2005.
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[PubMed: 16227998]
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Carella, M., d'Adamo, A. P., Grootenboer-Mignot, S., Vantyghem, M. C., Esposito, L., D'Eustacchio, A., Ficarella, R., Stewart, G. W., Gasparini, P., Delaunay, J., Iolascon, A.
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<strong>A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.</strong>
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Europ. J. Hum. Genet. 12: 1073-1076, 2004.
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[PubMed: 15470366]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201280]
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Coles, S. E., Chetty, M. C., Ho, M. M., Nicolaou, A., Kearney, J. W., Wright, S. D., Stewart, G. W.
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<strong>Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong>
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Brit. J. Haemat. 105: 1055-1065, 1999.
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[PubMed: 10554820]
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[Full Text: https://doi.org/10.1046/j.1365-2141.1999.01444.x]
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Coles, S. E., Ho, M. M., Chetty, M. C., Nicolaou, A., Stewart, G. W.
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<strong>A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.</strong>
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Brit. J. Haemat. 104: 275-283, 1999.
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[PubMed: 10050708]
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[Full Text: https://doi.org/10.1046/j.1365-2141.1999.01191.x]
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Gore, D. M., Chetty, M. C., Coles, S. C., Gover, P. M., Stewart G. W.
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<strong>Hereditary spherocytosis with a low temperature Na/K leak and thrombosis. (Abstract)</strong>
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Brit. J. Haemat. 117 Suppl 1: 9-10, 2002.
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Gore, D. M., Layton, M., Sinha, A. K., Williamson, P. J., Vaidya, B., Connolly, V., Mannix, P., Chetty, M. C., Nicolaou, A., Stewart, G. W.
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<strong>Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia: novel profile of temperature dependence of Na(+)-K(+) leak in a xerocytic form.</strong>
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Brit. J. Haemat. 125: 521-527, 2004.
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[PubMed: 15142123]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2004.04944.x]
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Haines, P. G., Jarvis, H. G., King, S., Noormohamed, F. H., Chetty, M. C., Fisher, J., Hill, P., Nicolaou, A., Stewart, G. W.
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<strong>Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis.</strong>
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Brit. J. Haemat. 113: 932-937, 2001.
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[PubMed: 11442486]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2001.02792.x]
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Miller, G., Townes, P. L., MacWhinney, J. B.
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<strong>A new congenital hemolytic anemia with deformed erythrocytes ('stomatocytes') and remarkable susceptibility of erythrocytes to cold hemolysis in vitro. I. Clinical and hematological studies.</strong>
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Pediatrics 35: 906-915, 1965.
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[PubMed: 14296416]
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Townes, P. L., Miller, G.
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<strong>Further studies of cold-sensitive variant of stomatocytosis. (Abstract)</strong>
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Am. J. Hum. Genet. 32: 57A only, 1980.
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Vaidya, B., Chan, K., Drury, J., Connolly, V.
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<strong>A race to the lab.</strong>
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Lancet 359: 848 only, 2002.
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[PubMed: 11897285]
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[Full Text: https://doi.org/10.1016/S0140-6736(02)07956-4]
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Marla J. F. O'Neill - updated : 12/7/2015<br>Victor A. McKusick - updated : 11/4/1999
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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