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1024 lines
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106 KiB
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<meta name="keywords" content="C0039730, disease or syndrome, hereditary leptocytosis, sickle-cell thalassemia with crisis, sickle-cell thalassemia without crisis, thalassemia, thalassemia hb-s disease with crisis, thalassemia hb-s disease without crisis, thalassemia syndrome, thalassemias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=21121
|
||
ConceptID=C0039730
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thalassemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21121</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Thalassemias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary leptocytosis (40108008); Thalassemia syndrome (84188003); Thalassemia (40108008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/109580095">HBB-LCR</a>, <a target="_blank" href="/gene/3043">HBB</a>, <a target="_blank" href="/gene/3040">HBA2</a>, <a target="_blank" href="/gene/3039">HBA1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000984" target="_blank">MONDO:0000984</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From GeneReviews</strong><br />Beta-thalassemia (β-thalassemia) has two clinically significant forms, β-thalassemia major and β-thalassemia intermedia, caused by absent or reduced synthesis of the hemoglobin subunit beta (beta globin chain). Individuals with β-thalassemia major present between ages six and 24 months with pallor due to severe anemia, poor weight gain, stunted growth, mild jaundice, and hepatosplenomegaly. Feeding problems, diarrhea, irritability, and recurrent bouts of fever may occur. Treatment with regular red blood cell transfusions and iron chelation therapy allows for normal growth and development and improves prognosis. Long-term complications associated with iron overload include stunted growth, dilated cardiomyopathy, liver disease, and endocrinopathies. Individuals with β-thalassemia intermedia have a more variable age of presentation due to milder anemia that does not require regular red blood cell transfusions from early childhood. Additional clinical features may include jaundice, cholelithiasis, hepatosplenomegaly, skeletal changes (long bone deformities, characteristic craniofacial features, and osteoporosis), leg ulcers, pulmonary hypertension, extramedullary masses of hyperplastic erythroid marrow, and increased risk of thrombotic complications. Individuals with β-thalassemia intermedia are at risk for iron overload secondary to increased intestinal absorption of iron as a result of dysregulation of iron metabolism caused by ineffective erythropoiesis.</div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019045[DISCUI]&test_type=Clinical" ref="ncbi_uid=42400">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=42400" ref="ncbi_uid=42400">V</a></span></span><span class="TLline"><a href="/medgen/42400" ref="tree=GTR&ncbi_uid=42400&link_uid=42400" title="View MedGen record for 'Hemoglobinopathy'">Hemoglobinopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002895[DISCUI]&test_type=Clinical" ref="ncbi_uid=287">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=287" target="_blank" href="/omim/141900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1377/" ref="ncbi_uid=287">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=287" ref="ncbi_uid=287">V</a></span></span><span class="TLline"><a href="/medgen/287" ref="tree=GTR&ncbi_uid=287&link_uid=287" title="View MedGen record for 'Hb SS disease'">Hb SS disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0221019[DISCUI]&test_type=Clinical" ref="ncbi_uid=452211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/452211" ref="tree=GTR&ncbi_uid=452211&link_uid=452211" title="View MedGen record for 'Sickle cell-beta-thalassemia'">Sickle cell-beta-thalassemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019034[DISCUI]&test_type=Clinical" ref="ncbi_uid=5496">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5496" ref="ncbi_uid=5496">V</a></span></span><span class="TLline"><a href="/medgen/5496" ref="tree=GTR&ncbi_uid=5496&link_uid=5496" title="View MedGen record for 'Sickle cell-hemoglobin C disease'">Sickle cell-hemoglobin C disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272084[DISCUI]&test_type=Clinical" ref="ncbi_uid=452366">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/452366" ref="tree=GTR&ncbi_uid=452366&link_uid=452366" title="View MedGen record for 'Sickle cell-hemoglobin D disease'">Sickle cell-hemoglobin D disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1264000[DISCUI]&test_type=Clinical" ref="ncbi_uid=468528">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468528" ref="ncbi_uid=468528">V</a></span></span><span class="TLline"><a href="/medgen/468528" ref="tree=GTR&ncbi_uid=468528&link_uid=468528" title="View MedGen record for 'Sickle cell-Hemoglobin O Arab disease'">Sickle cell-Hemoglobin O Arab disease</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0039730[DISCUI]&test_type=Clinical" ref="ncbi_uid=21121">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1426%20OR%20NBK1435)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=21121">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=21121" ref="ncbi_uid=21121">V</a></span></span><span class="TLline">Thalassemia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002312[DISCUI]&test_type=Clinical" ref="ncbi_uid=1434">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1434" target="_blank" href="/omim/141800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1435/" ref="ncbi_uid=1434">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1434" ref="ncbi_uid=1434">V</a></span></span><span class="TLline"><a href="/medgen/1434" ref="tree=GTR&ncbi_uid=1434&link_uid=1434" title="View MedGen record for 'alpha Thalassemia'">alpha Thalassemia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272005[DISCUI]&test_type=Clinical" ref="ncbi_uid=543726">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1435/" ref="ncbi_uid=543726">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/543726" ref="tree=GTR&ncbi_uid=543726&link_uid=543726" title="View MedGen record for 'Hemoglobin Bart hydrops syndrome'">Hemoglobin Bart hydrops syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3161174[DISCUI]&test_type=Clinical" ref="ncbi_uid=468531">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=468531" target="_blank" href="/omim/613978">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468531" ref="ncbi_uid=468531">V</a></span></span><span class="TLline"><a href="/medgen/468531" ref="tree=GTR&ncbi_uid=468531&link_uid=468531" title="View MedGen record for 'Hemoglobin H disease'">Hemoglobin H disease</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0005283[DISCUI]&test_type=Clinical" ref="ncbi_uid=2611">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2611" target="_blank" href="/omim/141900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1426/" ref="ncbi_uid=2611">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2611" ref="ncbi_uid=2611">V</a></span></span><span class="TLline"><a href="/medgen/2611" ref="tree=GTR&ncbi_uid=2611&link_uid=2611" title="View MedGen record for 'beta Thalassemia'">beta Thalassemia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0472767[DISCUI]&test_type=Clinical" ref="ncbi_uid=450544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=450544" target="_blank" href="/omim/141900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=450544" ref="ncbi_uid=450544">V</a></span></span><span class="TLline"><a href="/medgen/450544" ref="tree=GTR&ncbi_uid=450544&link_uid=450544" title="View MedGen record for 'Beta thalassemia intermedia'">Beta thalassemia intermedia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN322236[DISCUI]&test_type=Clinical" ref="ncbi_uid=1001603">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1426/" ref="ncbi_uid=1001603">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1001603" ref="ncbi_uid=1001603">V</a></span></span><span class="TLline"><a href="/medgen/1001603" ref="tree=GTR&ncbi_uid=1001603&link_uid=1001603" title="View MedGen record for 'Beta-thalassemia HBB/LCRB'">Beta-thalassemia HBB/LCRB</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002875[DISCUI]&test_type=Clinical" ref="ncbi_uid=283">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=283" ref="ncbi_uid=283">V</a></span></span><span class="TLline"><a href="/medgen/283" ref="tree=GTR&ncbi_uid=283&link_uid=283" title="View MedGen record for 'Beta-thalassemia major'">Beta-thalassemia major</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271979[DISCUI]&test_type=Clinical" ref="ncbi_uid=82892">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82892" target="_blank" href="/omim/141900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82892" ref="ncbi_uid=82892">V</a></span></span><span class="TLline"><a href="/medgen/82892" ref="tree=GTR&ncbi_uid=82892&link_uid=82892" title="View MedGen record for 'Thalassemia intermedia'">Thalassemia intermedia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0869532[DISCUI]&test_type=Clinical" ref="ncbi_uid=450549">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/450549" ref="tree=GTR&ncbi_uid=450549&link_uid=450549" title="View MedGen record for 'Thalassemia minor'">Thalassemia minor</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1919" ref="tree=MeSH" title="MedGen record for Familial hemolytic anemia">Familial hemolytic anemia</a></span><ul><li><span class="matched_ds">Thalassemia</span><ul><li><span class="TLline"><a href="/medgen/1434" ref="tree=MeSH" title="MedGen record for alpha Thalassemia">alpha Thalassemia</a></span><ul><li><span class="TLline"><a href="/medgen/543726" ref="tree=MeSH" title="MedGen record for Hemoglobin Bart hydrops syndrome">Hemoglobin Bart hydrops syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468531" ref="tree=MeSH" title="MedGen record for Hemoglobin H disease">Hemoglobin H disease</a></span><ul><li><span class="TLline"><a href="/medgen/481191" ref="tree=MeSH" title="MedGen record for Hemoglobin H disease, nondeletional">Hemoglobin H disease, nondeletional</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6947" ref="tree=MeSH" title="MedGen record for Hydrops fetalis">Hydrops fetalis</a></span><ul><li><span class="TLline"><a href="/medgen/105328" ref="tree=MeSH" title="MedGen record for Immune hydrops fetalis">Immune hydrops fetalis</a></span></li><li><span class="TLline"><a href="/medgen/105327" ref="tree=MeSH" title="MedGen record for Non-immune hydrops fetalis">Non-immune hydrops fetalis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/2611" ref="tree=MeSH" title="MedGen record for beta Thalassemia">beta Thalassemia</a></span><ul><li><span class="TLline"><a href="/medgen/450544" ref="tree=MeSH" title="MedGen record for Beta thalassemia intermedia">Beta thalassemia intermedia</a></span></li><li><span class="TLline"><a href="/medgen/1001603" ref="tree=MeSH" title="MedGen record for Beta-thalassemia HBB/LCRB">Beta-thalassemia HBB/LCRB</a></span></li><li><span class="TLline"><a href="/medgen/283" ref="tree=MeSH" title="MedGen record for Beta-thalassemia major">Beta-thalassemia major</a></span></li><li><span class="TLline"><a href="/medgen/78790" ref="tree=MeSH" title="MedGen record for Delta-beta-thalassemia">Delta-beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/347036" ref="tree=MeSH" title="MedGen record for Dominant beta-thalassemia">Dominant beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/1644312" ref="tree=MeSH" title="MedGen record for Hemoglobin Lepore Syndrome">Hemoglobin Lepore Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82892" ref="tree=MeSH" title="MedGen record for Thalassemia intermedia">Thalassemia intermedia</a></span></li><li><span class="TLline"><a href="/medgen/450549" ref="tree=MeSH" title="MedGen record for Thalassemia minor">Thalassemia minor</a></span></li><li><span class="TLline"><a href="/medgen/1734754" ref="tree=MeSH" title="MedGen record for Transfusion Dependent Beta Thalassemia">Transfusion Dependent Beta Thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/459441" ref="tree=MeSH" title="MedGen record for Beta Thalassemia Plus Structural Variants">Beta Thalassemia Plus Structural Variants</a></span></li><li><span class="TLline"><a href="/medgen/78791" ref="tree=MeSH" title="MedGen record for delta Thalassemia">delta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/414290" ref="tree=MeSH" title="MedGen record for S-Beta Thalassemia">S-Beta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/1755933" ref="tree=MeSH" title="MedGen record for Transfusion Dependent Thalassemia">Transfusion Dependent Thalassemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/34860784">Anemia in Pregnancy: Screening and Clinical Management Strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stanley AY,
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Wallace JB,
|
||
Hernandez AM,
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Spell JL</span><br />
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<span class="medgenPMjournal">MCN Am J Matern Child Nurs</span>
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2022 Jan-Feb 01;47(1):25-32.
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doi: 10.1097/NMC.0000000000000787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34860784" target="_blank">34860784</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30718211">Fetal anemia: Diagnosis and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prefumo F,
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Fichera A,
|
||
Fratelli N,
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Sartori E</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
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2019 Jul;58:2-14.
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||
Epub 2019 Jan 9
|
||
doi: 10.1016/j.bpobgyn.2019.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30718211" target="_blank">30718211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29458726">Clinical Classification, Screening and Diagnosis for Thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viprakasit V,
|
||
Ekwattanakit S</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2018 Apr;32(2):193-211.
|
||
doi: 10.1016/j.hoc.2017.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29458726" target="_blank">29458726</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22thalassemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1115)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36907606">The Clinical Phenotypes of Alpha Thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lal A,
|
||
Vichinsky E</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2023 Apr;37(2):327-339.
|
||
doi: 10.1016/j.hoc.2022.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36907606" target="_blank">36907606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34889395">Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mensah C,
|
||
Sheth S</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2021 Dec 10;2021(1):607-613.
|
||
doi: 10.1182/hematology.2021000296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889395" target="_blank">34889395</a><a href="/pmc/articles/PMC8791174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20098328">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao A,
|
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<div class="nl"><a target="_blank" href="/pubmed/19678601">Alpha and beta thalassemia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thalassemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4541)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38692232">A systematic review of second-generation FLT3 inhibitors for treatment of patients with relapsed/refractory acute myeloid leukemia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37851445">Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37385374">Mirror syndrome: a systematic literature review.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37357829">Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Musallam KM,
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Lombard L,
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Kistler KD,
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Arregui M,
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thalassemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (180)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0039730%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0039730%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0039730%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0039730%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Thalassemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22thalassemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Thalassemia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Thalassemia/7048" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Thalassemia" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7756/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301608" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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