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<meta name="keywords" content="C0272005, alpha thalassemia major, alpha-thalassemia hydrops fetalis, alpha-thalassemia major, disease or syndrome, haemoglobin bart's hydrops fetalis, hb bart, hb bart's hydrops fetalis, hb bart’s hydrops fetalis caused by quadallelic variation in hba1;hba2, hb bart’s hydrops fetalis related to quadallelic variation in hba1 and hba2, hba1;hba2 digenic quadallelic hb bart’s hydrops fetalis, hemoglobin bart hydrops syndrome, hemoglobin bart's disease, hemoglobin bart's hydrops fetalis, hemoglobin bart's hydrops syndrome, hemoglobin barts hydrops, homozygous alpha0-thalassemia, hydrops fetalis, alpha-thalassemia-related, 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="Alpha-thalassemia (a-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome (caused by deletion/inactivation of all four alpha globin [a-globin] genes; --/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three a-globin genes; --/-a). Hb Bart syndrome, the more severe form, is characterized by prenatal onset of generalized edema and pleural and pericardial effusions as a result of congestive heart failure induced by severe anemia. Extramedullary erythropoiesis, marked hepatosplenomegaly, and a massive placenta are common. Death usually occurs in the neonatal period. HbH disease has a broad phenotypic spectrum: although clinical features usually develop in the first years of life, HbH disease may not present until adulthood or may be diagnosed only during routine hematologic analysis in an asymptomatic individual. The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. Individuals with HbH disease may develop gallstones and experience acute episodes of hemolysis in response to infections or exposure to oxidant drugs." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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||
<!--
|
||
UID=543726
|
||
ConceptID=C0272005
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1435/bin/a-thal-Image001.gif" src-large="/books/NBK1435/bin/a-thal-Image001.jpg" /></a><br /><a href="/books/NBK1435/figure/a-thal.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hemoglobin Bart hydrops syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543726</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.">C0272005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Alpha thalassemia major; Hb Bart; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops syndrome; Hydrops fetalis, alpha-thalassemia-related</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hemoglobin Bart hydrops syndrome (5300004); Alpha thalassemia major (5300004); Hemoglobin Barts hydrops (5300004); Hemoglobin Bart's hydrops syndrome (5300004); Hemoglobin Bart's disease (5300004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015579" target="_blank">MONDO:0015579</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>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1435" target="_blank">Alpha-Thalassemia</a></div><div>Alpha-thalassemia (α-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome (caused by deletion/inactivation of all four alpha globin [α-globin] genes; --/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three α-globin genes; --/-α). Hb Bart syndrome, the more severe form, is characterized by prenatal onset of generalized edema and pleural and pericardial effusions as a result of congestive heart failure induced by severe anemia. Extramedullary erythropoiesis, marked hepatosplenomegaly, and a massive placenta are common. Death usually occurs in the neonatal period. HbH disease has a broad phenotypic spectrum: although clinical features usually develop in the first years of life, HbH disease may not present until adulthood or may be diagnosed only during routine hematologic analysis in an asymptomatic individual. The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. Individuals with HbH disease may develop gallstones and experience acute episodes of hemolysis in response to infections or exposure to oxidant drugs. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1435#a-thal.Summary" target="NBK1435">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.GeneReview_Scope" target="NBK1435">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Diagnosis" target="NBK1435">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Clinical_Characteristics" target="NBK1435">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Genetically_Related_Allelic_Disor" target="NBK1435">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Differential_Diagnosis" target="NBK1435">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Management" target="NBK1435">Management</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Genetic_Counseling" target="NBK1435">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Resources" target="NBK1435">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Molecular_Genetics" target="NBK1435">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.Chapter_Notes" target="NBK1435">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1435#a-thal.References" target="NBK1435">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Hannah Tamary | Orly Dgany <a href="/books/NBK1435" target="NBK1435" title="NCBI Bookshelf: Alpha-Thalassemia">view full author information</a></div></div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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||
<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="TLclosed"><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"><a href="/medgen/21121" ref="tree=GTR&ncbi_uid=21121&link_uid=21121" title="View MedGen record for 'Thalassemia'">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=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="matched_ds"><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">Hemoglobin Bart hydrops syndrome</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/1843145" ref="tree=MeSH" title="MedGen record for Alpha-thalassemia and related diseases">Alpha-thalassemia and related diseases</a></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="matched_ds">Hemoglobin Bart hydrops syndrome</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32431038">Management of haemoglobin Barts hydrops fetalis syndrome with exchange transfusions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong J,
|
||
Bowden D,
|
||
Kaplan Z</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2020 May;50(5):638-639.
|
||
doi: 10.1111/imj.14823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32431038" target="_blank">32431038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31841045">Electrophoresis features and genotypes of Hb bart's hydrops fetalis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Liang L,
|
||
Tian M,
|
||
Qing T,
|
||
Wu X</span><br />
|
||
<span class="medgenPMjournal">Scand J Clin Lab Invest</span>
|
||
2020 Feb-Apr;80(2):129-132.
|
||
Epub 2019 Dec 14
|
||
doi: 10.1080/00365513.2019.1703211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31841045" target="_blank">31841045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21167500">Weighing the evidence for newborn screening for Hemoglobin H disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemper AR,
|
||
Knapp AA,
|
||
Metterville DR,
|
||
Comeau AM,
|
||
Green NS,
|
||
Perrin JM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2011 May;158(5):780-3.
|
||
Epub 2010 Dec 16
|
||
doi: 10.1016/j.jpeds.2010.10.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21167500" target="_blank">21167500</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hemoglobin%20bart%20hydrops%20syndrome)%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 (14)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-Barts-Present-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics Newborn Screening ACT sheet, FA + Barts present (unquantified), FAB, Alpha Thalassemia, 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-Barts-Present-Algorithm.pdf" target="_blank">ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-High-Barts-ACT-Sheet.pdf" target="_blank">ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-High-Barts-Algorithm.pdf" target="_blank">ACMG Algorithm, Hemoglobin FA + Barts: High Barts Alpha Thalassemia Screening Result (FAB3; FA + Barts > 20-25%), 2023</a></h3>
|
||
</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/38457773">Hemoglobin Bart's hydrops fetalis: charting the past and envisioning the future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amid A,
|
||
Liu S,
|
||
Babbs C,
|
||
Higgs DR</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Aug 22;144(8):822-833.
|
||
doi: 10.1182/blood.2023023692.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38457773" target="_blank">38457773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28057638">An international registry of survivors with Hb Bart's hydrops fetalis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Songdej D,
|
||
Babbs C,
|
||
Higgs DR;
|
||
BHFS International Consortium</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2017 Mar 9;129(10):1251-1259.
|
||
Epub 2017 Jan 5
|
||
doi: 10.1182/blood-2016-08-697110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28057638" target="_blank">28057638</a><a href="/pmc/articles/PMC5345731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20507641">Alpha-thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harteveld CL,
|
||
Higgs DR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 28;5:13.
|
||
doi: 10.1186/1750-1172-5-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20507641" target="_blank">20507641</a><a href="/pmc/articles/PMC2887799" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8560282">Prevention of beta-thalassemia major and Hb Bart's hydrops fetalis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beris P,
|
||
Darbellay R,
|
||
Extermann P</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
1995 Oct;32(4):244-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8560282" target="_blank">8560282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8353312">alpha-Thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higgs DR</span><br />
|
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<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
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1993 Mar;6(1):117-50.
|
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doi: 10.1016/s0950-3536(05)80068-x.
|
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<span class="bold">PMID: </span><a href="/pubmed/8353312" target="_blank">8353312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobin%20Bart%20hydrops%20syndrome%22%20AND%20Etiology%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 (36)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38457773">Hemoglobin Bart's hydrops fetalis: charting the past and envisioning the future.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Amid A,
|
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Liu S,
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Babbs C,
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Higgs DR</span><br />
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<span class="medgenPMjournal">Blood</span>
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2024 Aug 22;144(8):822-833.
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<span class="bold">PMID: </span><a href="/pubmed/38457773" target="_blank">38457773</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29032940">Molecular basis of α-thalassemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farashi S,
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Harteveld CL</span><br />
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2018 May;70:43-53.
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Epub 2017 Sep 21
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<span class="bold">PMID: </span><a href="/pubmed/29032940" target="_blank">29032940</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20507641">Alpha-thalassaemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harteveld CL,
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<div class="nl"><a target="_blank" href="/pubmed/8560282">Prevention of beta-thalassemia major and Hb Bart's hydrops fetalis syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beris P,
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Darbellay R,
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<div class="nl"><a target="_blank" href="/pubmed/8353312">alpha-Thalassaemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Higgs DR</span><br />
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<span class="medgenPMjournal">Baillieres Clin Haematol</span>
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<span class="bold">PMID: </span><a href="/pubmed/8353312" target="_blank">8353312</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobin%20Bart%20hydrops%20syndrome%22%20AND%20Diagnosis%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 (61)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37477864">Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li H,
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Wang J,
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Wang D,
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Gan Y,
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Xiong Y</span><br />
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<span class="medgenPMjournal">Int J Hematol</span>
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2023 Sep;118(3):355-363.
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Epub 2023 Jul 21
|
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doi: 10.1007/s12185-023-03643-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37477864" target="_blank">37477864</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275743">Challenges in chronic transfusion for patients with thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lal A</span><br />
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<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
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2020 Dec 4;2020(1):160-166.
|
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doi: 10.1182/hematology.2020000102.
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<span class="bold">PMID: </span><a href="/pubmed/33275743" target="_blank">33275743</a><a href="/pmc/articles/PMC7727587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31635494">Strong Linkage of the Single Nucleotide Polymorphism rs77308790 with an α(0)-Thalassemia (- -(SEA) deletion) Allele and Application for Double-Check Diagnosis of Hb Bart's Hydrops Fetalis Syndrome in Thailand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jomoui W,
|
||
Tepakhan W,
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||
Karnpean R</span><br />
|
||
<span class="medgenPMjournal">Hemoglobin</span>
|
||
2019 Jul-Sep;43(4-5):236-240.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1080/03630269.2019.1666720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31635494" target="_blank">31635494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29948167">Invasive prenatal diagnosis of α-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai K,
|
||
Li S,
|
||
Lin W,
|
||
Yang D,
|
||
Chen W,
|
||
Li M,
|
||
Pang L,
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Chen P</span><br />
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<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2018 Aug;298(2):307-311.
|
||
Epub 2018 Jun 9
|
||
doi: 10.1007/s00404-018-4807-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29948167" target="_blank">29948167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20008179">Hb H disease: clinical course and disease modifiers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fucharoen S,
|
||
Viprakasit V</span><br />
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||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2009:26-34.
|
||
doi: 10.1182/asheducation-2009.1.26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20008179" target="_blank">20008179</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobin%20Bart%20hydrops%20syndrome%22%20AND%20Therapy%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34935248">Placental transcriptome sequencing combined with bioinformatics predicts potential genes and circular RNAs associated with hemoglobin Bart's hydrops fetalis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng L,
|
||
Lu Y,
|
||
Yang D,
|
||
Yang F,
|
||
Ruan H,
|
||
Wei C,
|
||
Lai K,
|
||
Pang L</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2022 Feb;48(2):313-327.
|
||
Epub 2021 Dec 21
|
||
doi: 10.1111/jog.15126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34935248" target="_blank">34935248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29632273">Outcomes and morbidities of patients who survive haemoglobin Bart's hydrops fetalis syndrome: 20-year retrospective review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan WY,
|
||
Leung AW,
|
||
Luk CW,
|
||
Li RC,
|
||
Ling AS,
|
||
Ha SY</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2018 Apr;24(2):107-118.
|
||
Epub 2018 Apr 6
|
||
doi: 10.12809/hkmj176336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29632273" target="_blank">29632273</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28057638">An international registry of survivors with Hb Bart's hydrops fetalis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Songdej D,
|
||
Babbs C,
|
||
Higgs DR;
|
||
BHFS International Consortium</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2017 Mar 9;129(10):1251-1259.
|
||
Epub 2017 Jan 5
|
||
doi: 10.1182/blood-2016-08-697110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28057638" target="_blank">28057638</a><a href="/pmc/articles/PMC5345731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21167500">Weighing the evidence for newborn screening for Hemoglobin H disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemper AR,
|
||
Knapp AA,
|
||
Metterville DR,
|
||
Comeau AM,
|
||
Green NS,
|
||
Perrin JM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2011 May;158(5):780-3.
|
||
Epub 2010 Dec 16
|
||
doi: 10.1016/j.jpeds.2010.10.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21167500" target="_blank">21167500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8353312">alpha-Thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higgs DR</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1993 Mar;6(1):117-50.
|
||
doi: 10.1016/s0950-3536(05)80068-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8353312" target="_blank">8353312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobin%20Bart%20hydrops%20syndrome%22%20AND%20Prognosis%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34935248">Placental transcriptome sequencing combined with bioinformatics predicts potential genes and circular RNAs associated with hemoglobin Bart's hydrops fetalis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng L,
|
||
Lu Y,
|
||
Yang D,
|
||
Yang F,
|
||
Ruan H,
|
||
Wei C,
|
||
Lai K,
|
||
Pang L</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2022 Feb;48(2):313-327.
|
||
Epub 2021 Dec 21
|
||
doi: 10.1111/jog.15126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34935248" target="_blank">34935248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28057638">An international registry of survivors with Hb Bart's hydrops fetalis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Songdej D,
|
||
Babbs C,
|
||
Higgs DR;
|
||
BHFS International Consortium</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2017 Mar 9;129(10):1251-1259.
|
||
Epub 2017 Jan 5
|
||
doi: 10.1182/blood-2016-08-697110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28057638" target="_blank">28057638</a><a href="/pmc/articles/PMC5345731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20507641">Alpha-thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harteveld CL,
|
||
Higgs DR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 28;5:13.
|
||
doi: 10.1186/1750-1172-5-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20507641" target="_blank">20507641</a><a href="/pmc/articles/PMC2887799" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10872473">Alpha-thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernini LF,
|
||
Harteveld CL</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1998 Mar;11(1):53-90.
|
||
doi: 10.1016/s0950-3536(98)80070-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10872473" target="_blank">10872473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8353312">alpha-Thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higgs DR</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1993 Mar;6(1):117-50.
|
||
doi: 10.1016/s0950-3536(05)80068-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8353312" target="_blank">8353312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobin%20Bart%20hydrops%20syndrome%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 (13)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/21167500">Weighing the evidence for newborn screening for Hemoglobin H disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemper AR,
|
||
Knapp AA,
|
||
Metterville DR,
|
||
Comeau AM,
|
||
Green NS,
|
||
Perrin JM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2011 May;158(5):780-3.
|
||
Epub 2010 Dec 16
|
||
doi: 10.1016/j.jpeds.2010.10.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21167500" target="_blank">21167500</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobin%20Bart%20hydrops%20syndrome%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0272005%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272005%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272005%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0272005%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hemoglobin%20Bart%20hydrops%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(hemoglobin%20bart%20hydrops%20syndrome)%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></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-Barts-Present-ACT-Sheet.pdf">ACMG ACT, 2023</a><div>American College of Medical Genetics Newborn Screening ACT sheet, FA + Barts present (unquantified), FAB, Alpha Thalassemia, 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-Barts-Present-Algorithm.pdf">ACMG Algorithm, 2023</a><div>ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-High-Barts-ACT-Sheet.pdf">ACMG ACT, 2023</a><div>ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-High-Barts-Algorithm.pdf">ACMG Algorithm, 2023</a><div>ACMG Algorithm, Hemoglobin FA + Barts: High Barts Alpha Thalassemia Screening Result (FAB3; FA + Barts > 20-25%), 2023</div></li></ul></div>
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