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<title>
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Entry
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- #166900 - OVALOCYTOSIS, SOUTHEAST ASIAN; SAO
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- OMIM
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<span class="h4">#166900</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/166900"><strong>Clinical Synopsis</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="#mapping">Mapping</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=(OVALOCYTOSIS, SOUTHEAST ASIAN) OR (SLC4A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13885&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=166900[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=98868" 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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<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> 723623002<br />
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<strong>ORPHA:</strong> 98868<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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166900
|
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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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OVALOCYTOSIS, SOUTHEAST ASIAN; SAO
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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OVALOCYTOSIS, MALAYSIAN-MELANESIAN-FILIPINO TYPE<br />
|
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ELLIPTOCYTOSIS 4; EL4<br />
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ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY<br />
|
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HE, STOMATOCYTIC
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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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/17/635?start=-3&limit=10&highlight=635">
|
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17q21.31
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Ovalocytosis, SA type
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/166900"> 166900 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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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>
|
|
<span class="mim-font">
|
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SLC4A1
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109270"> 109270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
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</table>
|
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- Ovalocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191169008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191169008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250242004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250242004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D58.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D58.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/282.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">282.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013902&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013902</a>, <a href="https://bioportal.bioontology.org/search?q=C0427480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004445</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004445</a>]</span><br /> - Hemolytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span><br />
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<strong> Inheritance </strong>
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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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<p>A number sign (#) is used with this entry because Southeast Asian ovalocytosis (SAO) is caused by a heterozygous 27-bp deletion in the SLC4A1 gene (<a href="/entry/109270">109270</a>) on chromosome 17q21.</p>
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<p>Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by <a href="#12" class="mim-tip-reference" title="Jarolim, P., Palek, J., Amato, D., Hassan, K., Sapak, P., Nurse, G. T., Rubin, H. L., Zhai, S., Sahr, K. E., Liu, S. C. <strong>Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.</strong> Proc. Nat. Acad. Sci. 88: 11022-11026, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1722314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1722314</a>] [<a href="https://doi.org/10.1073/pnas.88.24.11022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1722314">Jarolim et al., 1991</a>). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by <a href="#20" class="mim-tip-reference" title="Reardon, D. M., Seymour, C. A., Cox, T. M., Pinder, J. C., Schofield, A. E, Tanner, M. J. A. <strong>Hereditary ovalocytosis with compensated haemolysis.</strong> Brit. J. Haemat. 85: 197-199, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8251392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8251392</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1993.tb08670.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8251392">Reardon et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1722314+8251392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#16" class="mim-tip-reference" title="Lie-Injo, L. E. <strong>Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malayan aborigines.</strong> Nature 208: 1329, 1965."None>Lie-Injo (1965)</a> first pointed out the high frequency of ovalocytosis in studies of Malaysian Orang Asli. <a href="#17" class="mim-tip-reference" title="Lie-Injo, L. E., Fix, A., Bolton, J. M., Gilman, R. H. <strong>Haemoglobin E-hereditary elliptocytosis in Malayan aborigines.</strong> Acta Haemat. 47: 210-216, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4625303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4625303</a>] [<a href="https://doi.org/10.1159/000208526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4625303">Lie-Injo et al. (1972)</a>, <a href="#9" class="mim-tip-reference" title="Ganesan, J., Lie-Injo, L. E., Ong, B. P. <strong>Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak.</strong> Hum. Hered. 25: 258-262, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1184011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1184011</a>] [<a href="https://doi.org/10.1159/000152733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1184011">Ganesan et al. (1975)</a>, and <a href="#3" class="mim-tip-reference" title="Baer, A., Lie-Injo, L. E., Welch, Q. B., Lewis, A. N. <strong>Genetic factors and malaria in the Temuan.</strong> Am. J. Hum. Genet. 28: 179-188, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/817597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">817597</a>]" pmid="817597">Baer et al. (1976)</a> extended the observations in Malaysia, where frequencies as high as 39% were found. <a href="#9" class="mim-tip-reference" title="Ganesan, J., Lie-Injo, L. E., Ong, B. P. <strong>Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak.</strong> Hum. Hered. 25: 258-262, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1184011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1184011</a>] [<a href="https://doi.org/10.1159/000152733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1184011">Ganesan et al. (1975)</a> reported an extraordinarily high frequency of ovalocytosis among the Land Dayaks (12.7%) and Sea Dayaks (9.0%), the indigenous people of Sarawak. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1184011+4625303+817597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Amato, D., Booth, P. B. <strong>Hereditary ovalocytosis in Melanesians.</strong> Papua New Guinea Med. J. 20: 26-32, 1977."None>Amato and Booth (1977)</a>, <a href="#5" class="mim-tip-reference" title="Booth, P. B., Serjeantson, S., Woodfield, D. G., Amato, D. <strong>Selective depression of blood group antigens associated with hereditary ovalocytosis among Melanesians.</strong> Vox Sang. 32: 99-110, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/403680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">403680</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1977.tb00612.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="403680">Booth et al. (1977)</a>, and <a href="#11" class="mim-tip-reference" title="Holt, M., Hogan, P. F., Nurse, G. T. <strong>The ovalocytosis polymorphism on the western border of Papua New Guinea.</strong> Hum. Biol. 53: 23-34, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6972343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6972343</a>]" pmid="6972343">Holt et al. (1981)</a> identified another focus of high frequency of elliptocytosis in Melanesia (Papua New Guinea, Sarawak). The morphologic change in the red cells was apparently responsible for a previously described depression of blood group antigens (<a href="#4" class="mim-tip-reference" title="Booth, P. B. <strong>The occurrence of weak I(T) red cell antigen among Melanesians.</strong> Vox Sang. 22: 64-72, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4551826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4551826</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1972.tb03967.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4551826">Booth, 1972</a>), e.g., Gerbich blood group (<a href="/entry/616089">616089</a>), which was thought to be recessively inherited. Red cells in this condition are ovalocytes, which are often macrocytic; some, called stomatocytes, have a longitudinal slit in the middle. Indeed, stomatocytic hereditary elliptocytosis, or stomatocytic HE, is a synonym. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6972343+403680+4551826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Kidson, C., Lamont, G., Saul, A., Nurse, G. T. <strong>Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture.</strong> Proc. Nat. Acad. Sci. 78: 5829-5832, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7029547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7029547</a>] [<a href="https://doi.org/10.1073/pnas.78.9.5829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7029547">Kidson et al. (1981)</a> found that ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites, thus providing a plausible explanation for the polymorphism (also see <a href="#21" class="mim-tip-reference" title="Serjeantson, S., Bryson, K., Amato, D., Babona, D. <strong>Malaria and hereditary ovalocytosis.</strong> Hum. Genet. 37: 161-167, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/328370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">328370</a>] [<a href="https://doi.org/10.1007/BF00393579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="328370">Serjeantson et al., 1977</a>). This may be a mutation of a structural protein of the red cell that endows the bearer with a selective advantage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=328370+7029547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Hadley, T., Saul, A., Lamont, G., Hudson, D. E., Miller, L. H., Kidson, C. <strong>Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro.</strong> J. Clin. Invest. 71: 780-782, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6338046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6338046</a>] [<a href="https://doi.org/10.1172/jci110827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6338046">Hadley et al. (1983)</a> showed that Melanesian elliptocytes are highly resistant to invasion by Plasmodium knowlesi and P. falciparum in vitro. This is the only human red cell variant known to be resistant to both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6338046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Baer, A. <strong>Elliptocytosis, malaria, and fertility in Malaysia.</strong> Hum. Biol. 60: 909-915, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3235080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3235080</a>]" pmid="3235080">Baer (1988)</a> suggested that Malaysian elliptocytosis may be a balanced polymorphism, i.e., that individuals homozygous for the elliptocytosis allele, not clearly identifiable by any assay, may be differentially susceptible to mortality, whereas the heterozygote is at an advantage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3235080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Liu, S.-C., Zhai, S., Palek, J., Golan, D. E., Amato, D., Hassan, K., Nurse, G. T., Babona, D., Coetzer, T., Jarolim, P., Zaik, M., Borwein, S. <strong>Molecular defect of the band 3 protein in Southeast Asian ovalocytosis.</strong> New Eng. J. Med. 323: 1530-1538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2146504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2146504</a>] [<a href="https://doi.org/10.1056/NEJM199011293232205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2146504">Liu et al. (1990)</a> found a structurally and functionally abnormal band 3 protein in Southeast Asian ovalocytosis. The abnormal protein binds tightly to ankyrin, thus leading to increased rigidity of the red cells, and in some way is responsible for the resistance of the red cells to invasion by malaria parasites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2146504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Jones, G. L., Edmundson, H. M., Wesche, D., Saul, A. <strong>Human erythrocyte band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis.</strong> Biochim. Biophys. Acta 1096: 33-40, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268683</a>] [<a href="https://doi.org/10.1016/0925-4439(90)90009-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2268683">Jones et al. (1990)</a> concluded that the markedly increased phosphorylation of band 3 protein in whole red cells or isolated ghosts from ovalocytic individuals might be explained by the following findings. The cytoplasmic domain of the ovalocyte band 3 was found to be approximately 3 kD larger than the normocytic protein. The N-terminal sequence of the ovalocytic band 3 was different from the reported sequence, suggesting that the increased size resulted from an N-terminal extension. This is the region of band 3 that is phosphorylated and interacts with the red cell cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2268683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Fix, A. G., Baer, A. S., Lie-Injo, L. E. <strong>The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families.</strong> Hum. Genet. 61: 250-253, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173868</a>] [<a href="https://doi.org/10.1007/BF00296452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7173868">Fix et al. (1982)</a> reported the findings in studies of Malaysian Orang Asli families and concluded that inheritance is autosomal dominant. They quoted <a href="#14" class="mim-tip-reference" title="Kidson, C., Lamont, G., Saul, A., Nurse, G. T. <strong>Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture.</strong> Proc. Nat. Acad. Sci. 78: 5829-5832, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7029547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7029547</a>] [<a href="https://doi.org/10.1073/pnas.78.9.5829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7029547">Kidson et al. (1981)</a> as stating that 'in 3 of 4 families involving the marriage of a Melanesian ovalocytic and a Caucasian normocytic person, we have found ovalocytic children.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7173868+7029547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Liu, S.-C., Zhai, S., Palek, J., Golan, D. E., Amato, D., Hassan, K., Nurse, G. T., Babona, D., Coetzer, T., Jarolim, P., Zaik, M., Borwein, S. <strong>Molecular defect of the band 3 protein in Southeast Asian ovalocytosis.</strong> New Eng. J. Med. 323: 1530-1538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2146504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2146504</a>] [<a href="https://doi.org/10.1056/NEJM199011293232205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2146504">Liu et al. (1990)</a> performed linkage studies in 14 families with SAO and obtained a lod score of 7.0 for linkage between the molecular defect in the band 3 protein and ovalocytosis. One of the patients they studied was Filipino. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2146504" 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>Following up on the demonstration by <a href="#19" class="mim-tip-reference" title="Liu, S.-C., Zhai, S., Palek, J., Golan, D. E., Amato, D., Hassan, K., Nurse, G. T., Babona, D., Coetzer, T., Jarolim, P., Zaik, M., Borwein, S. <strong>Molecular defect of the band 3 protein in Southeast Asian ovalocytosis.</strong> New Eng. J. Med. 323: 1530-1538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2146504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2146504</a>] [<a href="https://doi.org/10.1056/NEJM199011293232205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2146504">Liu et al. (1990)</a> that a structurally and functionally abnormal band 3 protein shows absolute linkage with the SAO phenotype, <a href="#12" class="mim-tip-reference" title="Jarolim, P., Palek, J., Amato, D., Hassan, K., Sapak, P., Nurse, G. T., Rubin, H. L., Zhai, S., Sahr, K. E., Liu, S. C. <strong>Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.</strong> Proc. Nat. Acad. Sci. 88: 11022-11026, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1722314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1722314</a>] [<a href="https://doi.org/10.1073/pnas.88.24.11022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1722314">Jarolim et al. (1991)</a> demonstrated that the EPB3 (SLC4A1) gene in these cases contains a 27-bp deletion, resulting in deletion of 9 amino acids (codons 400-408) in the boundary of cytoplasmic and membrane domains of the band 3 protein (<a href="/entry/109270#0002">109270.0002</a>). The defect was detected in all 30 ovalocytic subjects from Malaysia, the Philippines, and 2 unrelated coastal regions of Papua New Guinea, whereas it was absent in all 30 controls from Southeast Asia and 20 subjects of different ethnic origin from the United States. The lys56-to-glu mutation (K56E; <a href="/entry/109270#0001">109270.0001</a>) was also found in all SAO subjects; however, it was detected in 5 of 50 control subjects as well, suggesting that it represents a linked polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1722314+2146504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Liu, S.-C., Jarolim, P., Rubin, H. L., Palek, J., Amato, D., Hassan, K., Zaik, M., Sapak, P. <strong>The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. (Letter)</strong> Blood 84: 3590-3591, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949112</a>]" pmid="7949112">Liu et al. (1994)</a> suggested that the homozygous state for the BND3 27-bp deletion in Southeast Asian ovalocytosis may be lethal. In a group of 6 families in which both parents were heterozygous for the SAO 27-bp deletion and the K56E band 3-Memphis mutation, there were 35 offspring; 12 of these were available for testing and 10 were found to be heterozygous for both mutations, whereas the other 2 did not carry either. Specifically, none was homozygous for the SAO 27-bp deletion. The authors suggested that there was an increased frequency of miscarriages in these families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7949112" 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="Coetzer, T. L., Beeton, L., van Zyl, D., Field, S. P., Smart, E., Daniels, G. L. <strong>Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia.</strong> Blood 87: 1656-1658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608262</a>]" pmid="8608262">Coetzer et al. (1996)</a> described a 4-generation South African kindred with dominantly inherited ovalocytosis and hemolytic anemia. All affected subjects exhibited varying degrees of hemolytic anemia. Additionally, there was evidence for independent segregation of the band 3 Memphis I polymorphism (<a href="/entry/109270#0001">109270.0001</a>) and the SAO 27-bp deletion in BND3. Six SAO subjects and all 3 normal family members were heterozygous for the band 3 Memphis I polymorphism and one SAO subject was homozygous for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8608262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Cutting, H. O., McHugh, W. J., Conrad, F. G., Marlow, A. A. <strong>Autosomal dominant hemolytic anemia characterized by ovalocytosis: a family study of seven involved members.</strong> Am. J. Med. 39: 21-34, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14314234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14314234</a>] [<a href="https://doi.org/10.1016/0002-9343(65)90242-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14314234">Cutting et al. (1965)</a> reported 7 affected members in 3 generations of a Caucasian family with 3 instances of male-to-male transmission. All 7 had 'full ovalocytes' and 6 had uncompensated hemolytic anemia which underwent remission with splenectomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14314234" 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="#15" class="mim-tip-reference" title="Kjellman, B., Larsson, C., Tibblin, E. <strong>Hereditary ovalocytosis and splenic rupture.</strong> Acta Haemat. 63: 292-294, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6774560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6774560</a>] [<a href="https://doi.org/10.1159/000207420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6774560">Kjellman et al. (1980)</a> described a family with hemolytic ovalocytosis; each of 2 brothers sustained splenic rupture after relatively minor trauma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6774560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Hereditary ovalocytosis in Melanesians.</strong>
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Papua New Guinea Med. J. 20: 26-32, 1977.
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<strong>Elliptocytosis, malaria, and fertility in Malaysia.</strong>
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Hum. Biol. 60: 909-915, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3235080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3235080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3235080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Genetic factors and malaria in the Temuan.</strong>
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Am. J. Hum. Genet. 28: 179-188, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/817597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">817597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=817597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>The occurrence of weak I(T) red cell antigen among Melanesians.</strong>
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Vox Sang. 22: 64-72, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4551826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4551826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4551826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.1972.tb03967.x" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Booth1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Booth, P. B., Serjeantson, S., Woodfield, D. G., Amato, D.
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<strong>Selective depression of blood group antigens associated with hereditary ovalocytosis among Melanesians.</strong>
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Vox Sang. 32: 99-110, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/403680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">403680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=403680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.1977.tb00612.x" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Coetzer1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Coetzer, T. L., Beeton, L., van Zyl, D., Field, S. P., Smart, E., Daniels, G. L.
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<strong>Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia.</strong>
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Blood 87: 1656-1658, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8608262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Cutting1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cutting, H. O., McHugh, W. J., Conrad, F. G., Marlow, A. A.
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<strong>Autosomal dominant hemolytic anemia characterized by ovalocytosis: a family study of seven involved members.</strong>
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Am. J. Med. 39: 21-34, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14314234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14314234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14314234" 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/10.1016/0002-9343(65)90242-1" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Fix1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fix, A. G., Baer, A. S., Lie-Injo, L. E.
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<strong>The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families.</strong>
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Hum. Genet. 61: 250-253, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7173868" 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/10.1007/BF00296452" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Ganesan1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ganesan, J., Lie-Injo, L. E., Ong, B. P.
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<strong>Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak.</strong>
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Hum. Hered. 25: 258-262, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1184011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1184011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1184011" 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/10.1159/000152733" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Hadley1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hadley, T., Saul, A., Lamont, G., Hudson, D. E., Miller, L. H., Kidson, C.
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<strong>Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro.</strong>
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J. Clin. Invest. 71: 780-782, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6338046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6338046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6338046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/jci110827" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Holt1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Holt, M., Hogan, P. F., Nurse, G. T.
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<strong>The ovalocytosis polymorphism on the western border of Papua New Guinea.</strong>
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Hum. Biol. 53: 23-34, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6972343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6972343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6972343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Jarolim1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jarolim, P., Palek, J., Amato, D., Hassan, K., Sapak, P., Nurse, G. T., Rubin, H. L., Zhai, S., Sahr, K. E., Liu, S. C.
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<strong>Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.</strong>
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Proc. Nat. Acad. Sci. 88: 11022-11026, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1722314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1722314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1722314" 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.88.24.11022" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Jones1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jones, G. L., Edmundson, H. M., Wesche, D., Saul, A.
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<strong>Human erythrocyte band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis.</strong>
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Biochim. Biophys. Acta 1096: 33-40, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2268683" 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/10.1016/0925-4439(90)90009-e" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Kidson1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kidson, C., Lamont, G., Saul, A., Nurse, G. T.
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<strong>Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture.</strong>
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Proc. Nat. Acad. Sci. 78: 5829-5832, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7029547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7029547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7029547" 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.78.9.5829" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Kjellman1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kjellman, B., Larsson, C., Tibblin, E.
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<strong>Hereditary ovalocytosis and splenic rupture.</strong>
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Acta Haemat. 63: 292-294, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6774560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6774560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6774560" 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/10.1159/000207420" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Lie-Injo1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lie-Injo, L. E.
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<strong>Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malayan aborigines.</strong>
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Nature 208: 1329, 1965.
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Lie-Injo1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lie-Injo, L. E., Fix, A., Bolton, J. M., Gilman, R. H.
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<strong>Haemoglobin E-hereditary elliptocytosis in Malayan aborigines.</strong>
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Acta Haemat. 47: 210-216, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4625303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4625303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4625303" 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/10.1159/000208526" target="_blank">Full Text</a>]
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Liu1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, S.-C., Jarolim, P., Rubin, H. L., Palek, J., Amato, D., Hassan, K., Zaik, M., Sapak, P.
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<strong>The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. (Letter)</strong>
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Blood 84: 3590-3591, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7949112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Liu1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, S.-C., Zhai, S., Palek, J., Golan, D. E., Amato, D., Hassan, K., Nurse, G. T., Babona, D., Coetzer, T., Jarolim, P., Zaik, M., Borwein, S.
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<strong>Molecular defect of the band 3 protein in Southeast Asian ovalocytosis.</strong>
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New Eng. J. Med. 323: 1530-1538, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2146504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2146504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2146504" 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/NEJM199011293232205" target="_blank">Full Text</a>]
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Reardon1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reardon, D. M., Seymour, C. A., Cox, T. M., Pinder, J. C., Schofield, A. E, Tanner, M. J. A.
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<strong>Hereditary ovalocytosis with compensated haemolysis.</strong>
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Brit. J. Haemat. 85: 197-199, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8251392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8251392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8251392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1993.tb08670.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Serjeantson1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Serjeantson, S., Bryson, K., Amato, D., Babona, D.
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<strong>Malaria and hereditary ovalocytosis.</strong>
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Hum. Genet. 37: 161-167, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/328370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">328370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=328370" 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/10.1007/BF00393579" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 11/17/2015
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/09/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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carol : 12/16/2015<br>carol : 11/18/2015<br>carol : 11/17/2015<br>mgross : 2/21/2008<br>carol : 4/16/2004<br>mimadm : 1/14/1995<br>carol : 5/5/1994<br>terry : 5/2/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 2/17/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 166900
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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OVALOCYTOSIS, SOUTHEAST ASIAN; SAO
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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OVALOCYTOSIS, MALAYSIAN-MELANESIAN-FILIPINO TYPE<br />
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ELLIPTOCYTOSIS 4; EL4<br />
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ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY<br />
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HE, STOMATOCYTIC
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 723623002;
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<strong>ORPHA:</strong> 98868;
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<div>
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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 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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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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17q21.31
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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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Ovalocytosis, SA 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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166900
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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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Autosomal dominant
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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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3
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<td>
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<span class="mim-font">
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SLC4A1
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</span>
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</td>
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<td>
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<span class="mim-font">
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109270
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</td>
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</tr>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Southeast Asian ovalocytosis (SAO) is caused by a heterozygous 27-bp deletion in the SLC4A1 gene (109270) on chromosome 17q21.</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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<h4>
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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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<span class="mim-text-font">
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<p>Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 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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</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>Lie-Injo (1965) first pointed out the high frequency of ovalocytosis in studies of Malaysian Orang Asli. Lie-Injo et al. (1972), Ganesan et al. (1975), and Baer et al. (1976) extended the observations in Malaysia, where frequencies as high as 39% were found. Ganesan et al. (1975) reported an extraordinarily high frequency of ovalocytosis among the Land Dayaks (12.7%) and Sea Dayaks (9.0%), the indigenous people of Sarawak. </p><p>Amato and Booth (1977), Booth et al. (1977), and Holt et al. (1981) identified another focus of high frequency of elliptocytosis in Melanesia (Papua New Guinea, Sarawak). The morphologic change in the red cells was apparently responsible for a previously described depression of blood group antigens (Booth, 1972), e.g., Gerbich blood group (616089), which was thought to be recessively inherited. Red cells in this condition are ovalocytes, which are often macrocytic; some, called stomatocytes, have a longitudinal slit in the middle. Indeed, stomatocytic hereditary elliptocytosis, or stomatocytic HE, is a synonym. </p><p>Kidson et al. (1981) found that ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites, thus providing a plausible explanation for the polymorphism (also see Serjeantson et al., 1977). This may be a mutation of a structural protein of the red cell that endows the bearer with a selective advantage. </p><p>Hadley et al. (1983) showed that Melanesian elliptocytes are highly resistant to invasion by Plasmodium knowlesi and P. falciparum in vitro. This is the only human red cell variant known to be resistant to both. </p><p>Baer (1988) suggested that Malaysian elliptocytosis may be a balanced polymorphism, i.e., that individuals homozygous for the elliptocytosis allele, not clearly identifiable by any assay, may be differentially susceptible to mortality, whereas the heterozygote is at an advantage. </p><p>Liu et al. (1990) found a structurally and functionally abnormal band 3 protein in Southeast Asian ovalocytosis. The abnormal protein binds tightly to ankyrin, thus leading to increased rigidity of the red cells, and in some way is responsible for the resistance of the red cells to invasion by malaria parasites. </p><p>Jones et al. (1990) concluded that the markedly increased phosphorylation of band 3 protein in whole red cells or isolated ghosts from ovalocytic individuals might be explained by the following findings. The cytoplasmic domain of the ovalocyte band 3 was found to be approximately 3 kD larger than the normocytic protein. The N-terminal sequence of the ovalocytic band 3 was different from the reported sequence, suggesting that the increased size resulted from an N-terminal extension. This is the region of band 3 that is phosphorylated and interacts with the red cell cytoskeleton. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>Fix et al. (1982) reported the findings in studies of Malaysian Orang Asli families and concluded that inheritance is autosomal dominant. They quoted Kidson et al. (1981) as stating that 'in 3 of 4 families involving the marriage of a Melanesian ovalocytic and a Caucasian normocytic person, we have found ovalocytic children.' </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Liu et al. (1990) performed linkage studies in 14 families with SAO and obtained a lod score of 7.0 for linkage between the molecular defect in the band 3 protein and ovalocytosis. One of the patients they studied was Filipino. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Following up on the demonstration by Liu et al. (1990) that a structurally and functionally abnormal band 3 protein shows absolute linkage with the SAO phenotype, Jarolim et al. (1991) demonstrated that the EPB3 (SLC4A1) gene in these cases contains a 27-bp deletion, resulting in deletion of 9 amino acids (codons 400-408) in the boundary of cytoplasmic and membrane domains of the band 3 protein (109270.0002). The defect was detected in all 30 ovalocytic subjects from Malaysia, the Philippines, and 2 unrelated coastal regions of Papua New Guinea, whereas it was absent in all 30 controls from Southeast Asia and 20 subjects of different ethnic origin from the United States. The lys56-to-glu mutation (K56E; 109270.0001) was also found in all SAO subjects; however, it was detected in 5 of 50 control subjects as well, suggesting that it represents a linked polymorphism. </p><p>Liu et al. (1994) suggested that the homozygous state for the BND3 27-bp deletion in Southeast Asian ovalocytosis may be lethal. In a group of 6 families in which both parents were heterozygous for the SAO 27-bp deletion and the K56E band 3-Memphis mutation, there were 35 offspring; 12 of these were available for testing and 10 were found to be heterozygous for both mutations, whereas the other 2 did not carry either. Specifically, none was homozygous for the SAO 27-bp deletion. The authors suggested that there was an increased frequency of miscarriages in these families. </p><p>Coetzer et al. (1996) described a 4-generation South African kindred with dominantly inherited ovalocytosis and hemolytic anemia. All affected subjects exhibited varying degrees of hemolytic anemia. Additionally, there was evidence for independent segregation of the band 3 Memphis I polymorphism (109270.0001) and the SAO 27-bp deletion in BND3. Six SAO subjects and all 3 normal family members were heterozygous for the band 3 Memphis I polymorphism and one SAO subject was homozygous for this mutation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cutting et al. (1965) reported 7 affected members in 3 generations of a Caucasian family with 3 instances of male-to-male transmission. All 7 had 'full ovalocytes' and 6 had uncompensated hemolytic anemia which underwent remission with splenectomy. </p><p>Kjellman et al. (1980) described a family with hemolytic ovalocytosis; each of 2 brothers sustained splenic rupture after relatively minor trauma. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Amato, D., Booth, P. B.
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<strong>Hereditary ovalocytosis in Melanesians.</strong>
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Papua New Guinea Med. J. 20: 26-32, 1977.
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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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Baer, A.
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<strong>Elliptocytosis, malaria, and fertility in Malaysia.</strong>
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Hum. Biol. 60: 909-915, 1988.
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[PubMed: 3235080]
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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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Baer, A., Lie-Injo, L. E., Welch, Q. B., Lewis, A. N.
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<strong>Genetic factors and malaria in the Temuan.</strong>
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Am. J. Hum. Genet. 28: 179-188, 1976.
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[PubMed: 817597]
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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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Booth, P. B.
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<strong>The occurrence of weak I(T) red cell antigen among Melanesians.</strong>
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Vox Sang. 22: 64-72, 1972.
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[PubMed: 4551826]
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[Full Text: https://doi.org/10.1111/j.1423-0410.1972.tb03967.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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Booth, P. B., Serjeantson, S., Woodfield, D. G., Amato, D.
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<strong>Selective depression of blood group antigens associated with hereditary ovalocytosis among Melanesians.</strong>
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Vox Sang. 32: 99-110, 1977.
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[PubMed: 403680]
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[Full Text: https://doi.org/10.1111/j.1423-0410.1977.tb00612.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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Coetzer, T. L., Beeton, L., van Zyl, D., Field, S. P., Smart, E., Daniels, G. L.
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<strong>Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia.</strong>
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Blood 87: 1656-1658, 1996.
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[PubMed: 8608262]
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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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Cutting, H. O., McHugh, W. J., Conrad, F. G., Marlow, A. A.
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<strong>Autosomal dominant hemolytic anemia characterized by ovalocytosis: a family study of seven involved members.</strong>
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Am. J. Med. 39: 21-34, 1965.
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[PubMed: 14314234]
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[Full Text: https://doi.org/10.1016/0002-9343(65)90242-1]
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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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Fix, A. G., Baer, A. S., Lie-Injo, L. E.
|
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<strong>The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families.</strong>
|
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Hum. Genet. 61: 250-253, 1982.
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[PubMed: 7173868]
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[Full Text: https://doi.org/10.1007/BF00296452]
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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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Ganesan, J., Lie-Injo, L. E., Ong, B. P.
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<strong>Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak.</strong>
|
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Hum. Hered. 25: 258-262, 1975.
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[PubMed: 1184011]
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[Full Text: https://doi.org/10.1159/000152733]
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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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Hadley, T., Saul, A., Lamont, G., Hudson, D. E., Miller, L. H., Kidson, C.
|
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<strong>Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro.</strong>
|
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J. Clin. Invest. 71: 780-782, 1983.
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[PubMed: 6338046]
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[Full Text: https://doi.org/10.1172/jci110827]
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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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Holt, M., Hogan, P. F., Nurse, G. T.
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<strong>The ovalocytosis polymorphism on the western border of Papua New Guinea.</strong>
|
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Hum. Biol. 53: 23-34, 1981.
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[PubMed: 6972343]
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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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Jarolim, P., Palek, J., Amato, D., Hassan, K., Sapak, P., Nurse, G. T., Rubin, H. L., Zhai, S., Sahr, K. E., Liu, S. C.
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<strong>Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.</strong>
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[PubMed: 1722314]
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[Full Text: https://doi.org/10.1073/pnas.88.24.11022]
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Jones, G. L., Edmundson, H. M., Wesche, D., Saul, A.
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<strong>Human erythrocyte band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis.</strong>
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Biochim. Biophys. Acta 1096: 33-40, 1990.
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[PubMed: 2268683]
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[Full Text: https://doi.org/10.1016/0925-4439(90)90009-e]
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<p class="mim-text-font">
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Kidson, C., Lamont, G., Saul, A., Nurse, G. T.
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<strong>Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture.</strong>
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Proc. Nat. Acad. Sci. 78: 5829-5832, 1981.
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[PubMed: 7029547]
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[Full Text: https://doi.org/10.1073/pnas.78.9.5829]
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<p class="mim-text-font">
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Kjellman, B., Larsson, C., Tibblin, E.
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<strong>Hereditary ovalocytosis and splenic rupture.</strong>
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Acta Haemat. 63: 292-294, 1980.
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[PubMed: 6774560]
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[Full Text: https://doi.org/10.1159/000207420]
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Lie-Injo, L. E.
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<strong>Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malayan aborigines.</strong>
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Nature 208: 1329, 1965.
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<li>
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Lie-Injo, L. E., Fix, A., Bolton, J. M., Gilman, R. H.
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<strong>Haemoglobin E-hereditary elliptocytosis in Malayan aborigines.</strong>
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Acta Haemat. 47: 210-216, 1972.
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[PubMed: 4625303]
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[Full Text: https://doi.org/10.1159/000208526]
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Liu, S.-C., Jarolim, P., Rubin, H. L., Palek, J., Amato, D., Hassan, K., Zaik, M., Sapak, P.
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<strong>The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. (Letter)</strong>
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Blood 84: 3590-3591, 1994.
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[PubMed: 7949112]
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</p>
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<li>
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<p class="mim-text-font">
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Liu, S.-C., Zhai, S., Palek, J., Golan, D. E., Amato, D., Hassan, K., Nurse, G. T., Babona, D., Coetzer, T., Jarolim, P., Zaik, M., Borwein, S.
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<strong>Molecular defect of the band 3 protein in Southeast Asian ovalocytosis.</strong>
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New Eng. J. Med. 323: 1530-1538, 1990.
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[PubMed: 2146504]
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[Full Text: https://doi.org/10.1056/NEJM199011293232205]
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Reardon, D. M., Seymour, C. A., Cox, T. M., Pinder, J. C., Schofield, A. E, Tanner, M. J. A.
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<strong>Hereditary ovalocytosis with compensated haemolysis.</strong>
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Brit. J. Haemat. 85: 197-199, 1993.
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[PubMed: 8251392]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1993.tb08670.x]
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Serjeantson, S., Bryson, K., Amato, D., Babona, D.
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<strong>Malaria and hereditary ovalocytosis.</strong>
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Hum. Genet. 37: 161-167, 1977.
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[PubMed: 328370]
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[Full Text: https://doi.org/10.1007/BF00393579]
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Carol A. Bocchini - updated : 11/17/2015
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Victor A. McKusick : 6/2/1986
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