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<title>
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Entry
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- #617971 - METHEMOGLOBINEMIA, BETA TYPE
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- OMIM
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<span class="h4">#617971</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/617971"><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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<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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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(METHEMOGLOBINEMIA, BETA TYPE) OR (HBB)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21963&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617971[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=330041" 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>
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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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<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> 330041<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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617971
|
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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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METHEMOGLOBINEMIA, BETA TYPE
|
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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/11/110?start=-3&limit=10&highlight=110">
|
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11p15.4
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Methemoglobinemia, beta type
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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/617971"> 617971 </a>
|
|
</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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HBB
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/141900"> 141900 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/617971" 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="sr-only">Toggle Dropdown</span>
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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/617971" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/617971" 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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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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 class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Skin </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Cyanosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3415004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3415004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119419001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119419001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R23.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R23.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/782.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">782.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010520</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000961</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000961</a>]</span><br />
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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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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Methemoglobinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38959009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38959009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131171006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131171006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D74.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D74.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D74" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D74</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/289.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">289.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025637</a>, <a href="https://bioportal.bioontology.org/search?q=C5700167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700167</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012119</a>]</span><br /> -
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Hemoglobin M <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/259695003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">259695003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019030</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> MISCELLANEOUS </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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- Onset of cyanosis during infancy as beta hemoglobin synthesis increases<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> 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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<div>
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<span class="mim-font">
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- Caused by mutation in the hemoglobin beta gene (HBB, <a href="/entry/141900#0163">141900.0163</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<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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<br />
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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.">
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<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 this form of methemoglobinemia is caused by heterozygous mutation in the beta-globin gene (HBB; <a href="/entry/141900">141900</a>) that produces M hemoglobin, a methemoglobin not amenable to reduction, or a hemoglobin with an unusual susceptibility to oxidizing agents.</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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<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>Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (<a href="/entry/141800">141800</a>), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; <a href="/entry/142250">142250</a>), cyanosis disappears when the complete gamma-beta-switch occurs (summary by <a href="#3" class="mim-tip-reference" title="Mansouri, A., Lurie, A. A. <strong>Methemoglobinemia.</strong> Am. J. Hemat. 42: 7-12, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8416301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8416301</a>] [<a href="https://doi.org/10.1002/ajh.2830420104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8416301">Mansouri and Lurie, 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8416301" 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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<div>
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<br />
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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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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Gerald, P. S., Efron, M. L. <strong>Chemical studies of several varieties of Hb M.</strong> Proc. Nat. Acad. Sci. 47: 1758-1767, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13897827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13897827</a>] [<a href="https://doi.org/10.1073/pnas.47.11.1758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13897827">Gerald and Efron (1961)</a> reviewed 5 different M hemoglobins, all of which caused chronic cyanosis due to the occurrence of methemoglobinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13897827" 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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<div>
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<br />
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<a id="inheritance" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Methemoglobinemia caused by mutation in the beta-globin gene is inherited in an autosomal dominant manner.</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="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<p><a href="#2" class="mim-tip-reference" title="Hayashi, A., Suzuki, T., Imai, K., Morimoto, H., Watari, H. <strong>Properties of hemoglobin M, Milwaukee-1 variant and its unique characteristic.</strong> Biochim. Biophys. Acta 194: 6-15, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4311041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4311041</a>] [<a href="https://doi.org/10.1016/0005-2795(69)90173-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4311041">Hayashi et al. (1969)</a> noted that 4 M hemoglobins, Hb M (Iwate) (<a href="/entry/141800#0093">141800.0093</a>), Hb M (Hyde Park) (<a href="/entry/141900#0164">141900.0164</a>), Hb M (Boston) (<a href="/entry/114800#0092">114800.0092</a>), and Hb M (Saskatoon) (<a href="/entry/141900#0165">141900.0165</a>), have a structural abnormality in the proximal or the distal histidine of the alpha or beta subunits of the Hb molecule and have the same kind of amino acid substitution, histidine to tyrosine. These 4 amino acids are critical to the binding of the heme group. A fifth variant of Hb M, Hb M (Milwaukee-1) (<a href="/entry/141900#0165">141900.0165</a>), has a valine to glutamic acid substitution at a position 4 residues or one helical turn from the distal histidine. <a href="#3" class="mim-tip-reference" title="Mansouri, A., Lurie, A. A. <strong>Methemoglobinemia.</strong> Am. J. Hemat. 42: 7-12, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8416301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8416301</a>] [<a href="https://doi.org/10.1002/ajh.2830420104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8416301">Mansouri and Lurie (1993)</a> noted that in this Hb variant, the carboxylic group of the glutamic acid forms a bond with iron, thus stabilizing it in the oxidized form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8416301+4311041" 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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<br />
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<a id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</h4>
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<div>
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<p />
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Gerald, P. S., Efron, M. L.
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<strong>Chemical studies of several varieties of Hb M.</strong>
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Proc. Nat. Acad. Sci. 47: 1758-1767, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13897827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13897827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13897827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.47.11.1758" target="_blank">Full Text</a>]
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<a id="Hayashi1969" class="mim-anchor"></a>
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<p class="mim-text-font">
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Hayashi, A., Suzuki, T., Imai, K., Morimoto, H., Watari, H.
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<strong>Properties of hemoglobin M, Milwaukee-1 variant and its unique characteristic.</strong>
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Biochim. Biophys. Acta 194: 6-15, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4311041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4311041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4311041" 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/10.1016/0005-2795(69)90173-1" target="_blank">Full Text</a>]
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Mansouri, A., Lurie, A. A.
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<strong>Methemoglobinemia.</strong>
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Am. J. Hemat. 42: 7-12, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8416301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8416301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8416301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajh.2830420104" target="_blank">Full Text</a>]
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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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Carol A. Bocchini : 05/10/2018
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alopez : 06/27/2019
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carol : 07/24/2018<br>carol : 05/10/2018
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<strong>#</strong> 617971
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METHEMOGLOBINEMIA, BETA TYPE
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<strong>ORPHA:</strong> 330041;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11p15.4
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<span class="mim-font">
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Methemoglobinemia, beta type
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<span class="mim-font">
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617971
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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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<span class="mim-font">
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HBB
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<span class="mim-font">
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141900
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</table>
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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 this form of methemoglobinemia is caused by heterozygous mutation in the beta-globin gene (HBB; 141900) that produces M hemoglobin, a methemoglobin not amenable to reduction, or a hemoglobin with an unusual susceptibility to oxidizing agents.</p>
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<strong>Description</strong>
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<p>Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (141800), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993). </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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gerald and Efron (1961) reviewed 5 different M hemoglobins, all of which caused chronic cyanosis due to the occurrence of methemoglobinemia. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>Methemoglobinemia caused by mutation in the beta-globin gene is inherited in an autosomal dominant manner.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Hayashi et al. (1969) noted that 4 M hemoglobins, Hb M (Iwate) (141800.0093), Hb M (Hyde Park) (141900.0164), Hb M (Boston) (114800.0092), and Hb M (Saskatoon) (141900.0165), have a structural abnormality in the proximal or the distal histidine of the alpha or beta subunits of the Hb molecule and have the same kind of amino acid substitution, histidine to tyrosine. These 4 amino acids are critical to the binding of the heme group. A fifth variant of Hb M, Hb M (Milwaukee-1) (141900.0165), has a valine to glutamic acid substitution at a position 4 residues or one helical turn from the distal histidine. Mansouri and Lurie (1993) noted that in this Hb variant, the carboxylic group of the glutamic acid forms a bond with iron, thus stabilizing it in the oxidized form. </p>
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Gerald, P. S., Efron, M. L.
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<strong>Chemical studies of several varieties of Hb M.</strong>
|
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Proc. Nat. Acad. Sci. 47: 1758-1767, 1961.
|
|
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|
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[PubMed: 13897827]
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|
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[Full Text: https://doi.org/10.1073/pnas.47.11.1758]
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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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Hayashi, A., Suzuki, T., Imai, K., Morimoto, H., Watari, H.
|
|
<strong>Properties of hemoglobin M, Milwaukee-1 variant and its unique characteristic.</strong>
|
|
Biochim. Biophys. Acta 194: 6-15, 1969.
|
|
|
|
|
|
[PubMed: 4311041]
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[Full Text: https://doi.org/10.1016/0005-2795(69)90173-1]
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</li>
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<li>
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<p class="mim-text-font">
|
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Mansouri, A., Lurie, A. A.
|
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<strong>Methemoglobinemia.</strong>
|
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Am. J. Hemat. 42: 7-12, 1993.
|
|
|
|
|
|
[PubMed: 8416301]
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|
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[Full Text: https://doi.org/10.1002/ajh.2830420104]
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</p>
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</li>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 05/10/2018
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</span>
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Edit History:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/27/2019<br>carol : 07/24/2018<br>carol : 05/10/2018
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</span>
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</div>
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</div>
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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<br />
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
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<br />
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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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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