2178 lines
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Entry
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- #604131 - ALPHA-THALASSEMIA
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- OMIM
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<p>
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<span class="h4">#604131</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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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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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=ALPHA-THALASSEMIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=50&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1435/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/333" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604131[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=846" 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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<span class="small">
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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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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1099" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/604131" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:1099" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<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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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 68913001<br />
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<strong>ICD10CM:</strong> D56.0<br />
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<strong>ICD9CM:</strong> 282.43<br />
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<strong>ORPHA:</strong> 846<br />
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<strong>DO:</strong> 1099<br />
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">ICD+</a>
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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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604131
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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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ALPHA-THALASSEMIA
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/16/17?start=-3&limit=10&highlight=17">
|
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16p13.3
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</a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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Thalassemia, alpha-
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604131"> 604131 </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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</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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HBA2
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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/141850"> 141850 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/18?start=-3&limit=10&highlight=18">
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16p13.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Thalassemias, alpha-
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604131"> 604131 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="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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<p>A number sign (#) is used with this entry because of evidence that alpha-thalassemia is caused by mutation in the alpha-globin genes (HBA1, <a href="/entry/141800">141800</a>; HBA2, <a href="/entry/141850">141850</a>).</p><p>Sequences 30 to 50 kb upstream from the alpha-globin gene cluster, referred to as the locus control region alpha (LCRA; <a href="/entry/152422">152422</a>), have been found to be deleted in cases of alpha-thalassemia with structurally intact alpha-globin genes.</p>
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<p>Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha-globin chains. Four clinical conditions of increased severity are recognized: the silent carrier state (clinically and hematologically normal); thalassemia trait (microcytosis, hypochromia, and mild anemia); hemoglobin H (HbH) disease (<a href="/entry/613978">613978</a>; moderate to severe microcytic, hypochromic, hemolytic anemia, mild jaundice, moderate hepatosplenomegaly); and Hb Bart hydrops fetalis syndrome (severe anemia, generalized edema, ascites, marked hepatosplenomegaly, skeletal and cardiac malformations, usually death in utero) (summary by <a href="#2" class="mim-tip-reference" title="Galanello, R., Cao, A. <strong>Alpha-thalassemia.</strong> Genet. Med. 13: 83-88, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21381239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21381239</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3181fcb468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21381239">Galanello and Cao, 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21381239" 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 alpha-thalassemia phenotype ranges from asymptomatic to lethal. The severity of the disorder is usually well correlated with the number of nonfunctional copies of the alpha-globin genes. On the basis of the number of alpha-globin genes lost by deletion or totally or partially inactivated by point mutations, the alpha-thalassemias are classified into 2 main subgroups: alpha(+)-thalassemia (formerly alpha-thalassemia-2), in which one pair of the genes is deleted or inactivated by a point mutation, and alpha(0)-thalassemia (formerly alpha-thalassemia-1), in which both pairs of alpha-globin genes on the same chromosome are deleted. The clinically relevant forms of alpha-thalassemia usually involve alpha(0)-thalassemia, either coinherited with alpha(+)-thalassemia and resulting in HbH disease, or inherited from both parents and resulting in hemoglobin Bart hydrops fetalis. Milder variants of alpha-thalassemia act as genetic modifiers of other inherited conditions, as illustrated by epistatic interactions (when one gene influences another) between alpha-thalassemia and beta-thalassemia or between alpha-thalassemia and hemoglobin S (sickle hemoglobin). Triplications and quadruplications of the alpha-globin gene have frequently been observed in many populations, and these can interact with beta-thalassemia variants to produce more severe phenotypes (summary by <a href="#5" class="mim-tip-reference" title="Piel, F. B., Weatherall, D. J. <strong>The alpha-thalassemias.</strong> New Eng. J. Med. 371: 1908-1916, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25390741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25390741</a>] [<a href="https://doi.org/10.1056/NEJMra1404415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25390741">Piel and Weatherall, 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25390741" 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>Alpha-Thalassemia-Related Hydrops Fetalis</em></strong></p><p>
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Hydrops fetalis related to alpha-thalassemia results from severe anemia (and thus hypoxia) and heart failure. Fetuses that have deletion of all 4 alpha-globin genes (homozygous alpha(0)-thalassemia) have 80 to 90% Hb Bart (gamma-4 tetramers). These fetuses almost always succumb in utero during the second or third trimester of gestation, or die within hours after birth. This is known as Hb Bart hydrops fetalis syndrome, which is by far the most common cause of hydrops in Southeast Asia (summary by <a href="#4" class="mim-tip-reference" title="Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., Waye, J. S., Finklestein, J. Z., Chui, D. H. K. <strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong> Brit. J. Haemat. 115: 72-78, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11722414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11722414</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03080.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11722414">Lorey et al., 2001</a>). For a general phenotypic description of nonimmune hydrops fetalis, see <a href="/entry/236750">236750</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11722414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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The molecular and clinical aspects of the severe alpha-thalassemia syndromes were reviewed by <a href="#3" class="mim-tip-reference" title="Higgs, D. R. <strong>Alpha-thalassaemia.</strong> Baillieres Clin. Haemat. 6: 117-150, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8353312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8353312</a>] [<a href="https://doi.org/10.1016/s0950-3536(05)80068-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8353312">Higgs (1993)</a> and <a href="#1" class="mim-tip-reference" title="Chui, D. H. K., Waye, J. S. <strong>Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem.</strong> Blood 91: 2213-2222, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9516118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9516118</a>]" pmid="9516118">Chui and Waye (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8353312+9516118" 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="Weatherall, D. J. <strong>Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.</strong> Nature Rev. Genet. 2: 245-255, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11283697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11283697</a>] [<a href="https://doi.org/10.1038/35066048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11283697">Weatherall (2001)</a> reviewed phenotype-genotype relationships in monogenic diseases based on studies of the thalassemias. The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors. <a href="#6" class="mim-tip-reference" title="Weatherall, D. J. <strong>Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.</strong> Nature Rev. Genet. 2: 245-255, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11283697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11283697</a>] [<a href="https://doi.org/10.1038/35066048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11283697">Weatherall (2001)</a> stated that phenotype-genotype relations will likely be equally complex in many monogenic diseases. The findings reviewed by <a href="#6" class="mim-tip-reference" title="Weatherall, D. J. <strong>Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.</strong> Nature Rev. Genet. 2: 245-255, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11283697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11283697</a>] [<a href="https://doi.org/10.1038/35066048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11283697">Weatherall (2001)</a> highlighted the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability may be relatively low and several environmental agents are involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11283697" 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>Alpha-thalassemia occurs at a high frequency across the tropical belt, almost reaching fixation (i.e., it has reached a frequency of 100%) in parts of southern Asia. It has been estimated that about 5% of the population worldwide carry an alpha-thalassemia variant (summary by <a href="#5" class="mim-tip-reference" title="Piel, F. B., Weatherall, D. J. <strong>The alpha-thalassemias.</strong> New Eng. J. Med. 371: 1908-1916, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25390741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25390741</a>] [<a href="https://doi.org/10.1056/NEJMra1404415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25390741">Piel and Weatherall, 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25390741" 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>For a review of mutations in the HBA genes causing alpha-thalassemia, see <a href="/entry/141800">141800</a> and <a href="/entry/141850">141850</a>.</p>
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Chui, D. H. K., Waye, J. S.
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<strong>Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem.</strong>
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Blood 91: 2213-2222, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9516118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9516118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9516118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Galanello, R., Cao, A.
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<strong>Alpha-thalassemia.</strong>
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Genet. Med. 13: 83-88, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21381239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21381239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21381239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Higgs, D. R.
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<strong>Alpha-thalassaemia.</strong>
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Baillieres Clin. Haemat. 6: 117-150, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8353312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8353312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8353312" 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/s0950-3536(05)80068-x" target="_blank">Full Text</a>]
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Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., Waye, J. S., Finklestein, J. Z., Chui, D. H. K.
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<strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong>
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Brit. J. Haemat. 115: 72-78, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11722414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11722414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11722414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.2001.03080.x" target="_blank">Full Text</a>]
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Piel, F. B., Weatherall, D. J.
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<strong>The alpha-thalassemias.</strong>
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New Eng. J. Med. 371: 1908-1916, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25390741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25390741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25390741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMra1404415" target="_blank">Full Text</a>]
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Weatherall, D. J.
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<strong>Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.</strong>
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Nature Rev. Genet. 2: 245-255, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11283697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11283697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11283697" 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/10.1038/35066048" target="_blank">Full Text</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 A. Bocchini - updated : 09/09/2022
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<span class="mim-text-font">
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Victor A. McKusick - updated : 8/29/2003<br>Victor A. McKusick - updated : 8/9/2002
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Creation Date:
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Victor A. McKusick : 8/16/1999
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alopez : 02/14/2023
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carol : 09/10/2022<br>carol : 09/09/2022<br>carol : 05/20/2011<br>carol : 6/3/2009<br>carol : 8/29/2003<br>tkritzer : 8/16/2002<br>tkritzer : 8/14/2002<br>terry : 8/9/2002<br>alopez : 12/6/1999<br>carol : 8/20/1999
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<strong>#</strong> 604131
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<h3>
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ALPHA-THALASSEMIA
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<strong>SNOMEDCT:</strong> 68913001;
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<strong>ICD10CM:</strong> D56.0;
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<strong>ICD9CM:</strong> 282.43;
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<strong>ORPHA:</strong> 846;
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<strong>DO:</strong> 1099;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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16p13.3
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Thalassemia, alpha-
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<span class="mim-font">
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604131
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3
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HBA2
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<span class="mim-font">
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141850
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16p13.3
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<span class="mim-font">
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Thalassemias, alpha-
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<span class="mim-font">
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604131
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3
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HBA1
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141800
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that alpha-thalassemia is caused by mutation in the alpha-globin genes (HBA1, 141800; HBA2, 141850).</p><p>Sequences 30 to 50 kb upstream from the alpha-globin gene cluster, referred to as the locus control region alpha (LCRA; 152422), have been found to be deleted in cases of alpha-thalassemia with structurally intact alpha-globin genes.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha-globin chains. Four clinical conditions of increased severity are recognized: the silent carrier state (clinically and hematologically normal); thalassemia trait (microcytosis, hypochromia, and mild anemia); hemoglobin H (HbH) disease (613978; moderate to severe microcytic, hypochromic, hemolytic anemia, mild jaundice, moderate hepatosplenomegaly); and Hb Bart hydrops fetalis syndrome (severe anemia, generalized edema, ascites, marked hepatosplenomegaly, skeletal and cardiac malformations, usually death in utero) (summary by Galanello and Cao, 2011). </p>
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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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<span class="mim-text-font">
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<p>The alpha-thalassemia phenotype ranges from asymptomatic to lethal. The severity of the disorder is usually well correlated with the number of nonfunctional copies of the alpha-globin genes. On the basis of the number of alpha-globin genes lost by deletion or totally or partially inactivated by point mutations, the alpha-thalassemias are classified into 2 main subgroups: alpha(+)-thalassemia (formerly alpha-thalassemia-2), in which one pair of the genes is deleted or inactivated by a point mutation, and alpha(0)-thalassemia (formerly alpha-thalassemia-1), in which both pairs of alpha-globin genes on the same chromosome are deleted. The clinically relevant forms of alpha-thalassemia usually involve alpha(0)-thalassemia, either coinherited with alpha(+)-thalassemia and resulting in HbH disease, or inherited from both parents and resulting in hemoglobin Bart hydrops fetalis. Milder variants of alpha-thalassemia act as genetic modifiers of other inherited conditions, as illustrated by epistatic interactions (when one gene influences another) between alpha-thalassemia and beta-thalassemia or between alpha-thalassemia and hemoglobin S (sickle hemoglobin). Triplications and quadruplications of the alpha-globin gene have frequently been observed in many populations, and these can interact with beta-thalassemia variants to produce more severe phenotypes (summary by Piel and Weatherall, 2014). </p><p><strong><em>Alpha-Thalassemia-Related Hydrops Fetalis</em></strong></p><p>
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Hydrops fetalis related to alpha-thalassemia results from severe anemia (and thus hypoxia) and heart failure. Fetuses that have deletion of all 4 alpha-globin genes (homozygous alpha(0)-thalassemia) have 80 to 90% Hb Bart (gamma-4 tetramers). These fetuses almost always succumb in utero during the second or third trimester of gestation, or die within hours after birth. This is known as Hb Bart hydrops fetalis syndrome, which is by far the most common cause of hydrops in Southeast Asia (summary by Lorey et al., 2001). For a general phenotypic description of nonimmune hydrops fetalis, see 236750. </p><p><strong><em>Reviews</em></strong></p><p>
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The molecular and clinical aspects of the severe alpha-thalassemia syndromes were reviewed by Higgs (1993) and Chui and Waye (1998). </p><p>Weatherall (2001) reviewed phenotype-genotype relationships in monogenic diseases based on studies of the thalassemias. The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors. Weatherall (2001) stated that phenotype-genotype relations will likely be equally complex in many monogenic diseases. The findings reviewed by Weatherall (2001) highlighted the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability may be relatively low and several environmental agents are involved. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Alpha-thalassemia occurs at a high frequency across the tropical belt, almost reaching fixation (i.e., it has reached a frequency of 100%) in parts of southern Asia. It has been estimated that about 5% of the population worldwide carry an alpha-thalassemia variant (summary by Piel and Weatherall, 2014). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>For a review of mutations in the HBA genes causing alpha-thalassemia, see 141800 and 141850.</p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chui, D. H. K., Waye, J. S.
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<strong>Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem.</strong>
|
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Blood 91: 2213-2222, 1998.
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[PubMed: 9516118]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Galanello, R., Cao, A.
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<strong>Alpha-thalassemia.</strong>
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Genet. Med. 13: 83-88, 2011.
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[PubMed: 21381239]
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[Full Text: https://doi.org/10.1097/GIM.0b013e3181fcb468]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Higgs, D. R.
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<strong>Alpha-thalassaemia.</strong>
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Baillieres Clin. Haemat. 6: 117-150, 1993.
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[PubMed: 8353312]
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[Full Text: https://doi.org/10.1016/s0950-3536(05)80068-x]
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</p>
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<li>
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<p class="mim-text-font">
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Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., Waye, J. S., Finklestein, J. Z., Chui, D. H. K.
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<strong>Hb H hydrops fetalis syndrome: a case report and review of literature.</strong>
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Brit. J. Haemat. 115: 72-78, 2001.
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[PubMed: 11722414]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2001.03080.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Piel, F. B., Weatherall, D. J.
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<strong>The alpha-thalassemias.</strong>
|
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New Eng. J. Med. 371: 1908-1916, 2014.
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[PubMed: 25390741]
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[Full Text: https://doi.org/10.1056/NEJMra1404415]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weatherall, D. J.
|
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<strong>Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.</strong>
|
|
Nature Rev. Genet. 2: 245-255, 2001.
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[PubMed: 11283697]
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[Full Text: https://doi.org/10.1038/35066048]
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Carol A. Bocchini - updated : 09/09/2022<br>Victor A. McKusick - updated : 8/29/2003<br>Victor A. McKusick - updated : 8/9/2002
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Victor A. McKusick : 8/16/1999
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alopez : 02/14/2023<br>carol : 09/10/2022<br>carol : 09/09/2022<br>carol : 05/20/2011<br>carol : 6/3/2009<br>carol : 8/29/2003<br>tkritzer : 8/16/2002<br>tkritzer : 8/14/2002<br>terry : 8/9/2002<br>alopez : 12/6/1999<br>carol : 8/20/1999
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