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<meta name="keywords" content="C0002312, a-thalassemia, alpha thalassaemia, alpha thalassemia, alpha thalassemia spectrum, alpha thalassemia syndrome, alpha-thalassemia, alpha-thalassemia trait, alpha-thalassemias, disease or syndrome, disease, hemoglobin h, hba1, hba2, hbb, hemoglobin h disease, thalassemia alpha, thalassemia, alpha, thalassemia, alpha-, thalassemia-alpha, thalassemias, alpha-, 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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<!--
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UID=1434
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ConceptID=C0002312
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-->
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<!--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">alpha Thalassemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1434</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.">C0002312</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>A-Thalassemia; Alpha thalassemia spectrum</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Alpha thalassemia (68913001); alpha thalassemia (68913001); Alpha thalassemia syndrome (68913001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HBA1 - ID: 3039 - NCBI Gene" href="/gene/3039" class="medgenPMinfo">HBA1</a> (16p13.3); <a target="_blank" title="HBA2 - ID: 3040 - NCBI Gene" href="/gene/3040" class="medgenPMinfo">HBA2</a> (16p13.3); <a target="_blank" title="HBB - ID: 3043 - NCBI Gene" href="/gene/3043" class="medgenPMinfo">HBB</a> (11p15.4)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011399" target="_blank">MONDO:0011399</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604131" target="_blank">604131</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=846">ORPHA846</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">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha-globin chains. Four clinical conditions of increased severity are recognized: the silent carrier state (clinically and hematologically normal); thalassemia trait (microcytosis, hypochromia, and mild anemia); hemoglobin H (HbH) disease (613978; moderate to severe microcytic, hypochromic, hemolytic anemia, mild jaundice, moderate hepatosplenomegaly); and Hb Bart hydrops fetalis syndrome (severe anemia, generalized edema, ascites, marked hepatosplenomegaly, skeletal and cardiac malformations, usually death in utero) (summary by Galanello and Cao, 2011). <a target="_blank" href="http://www.omim.org/entry/604131">http://www.omim.org/entry/604131</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.<br /><br />In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications.<br /><br />Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease.<br /><br />Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. Without treatment, most babies with this condition are stillborn or die soon after birth because of these serious health problems. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding.<br /><br />HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood. <a target="_blank" href="https://medlineplus.gov/genetics/condition/alpha-thalassemia">https://medlineplus.gov/genetics/condition/alpha-thalassemia</a></div></div>
|
||
</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_124413"><div><strong>Hypochromic microcytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124413</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.">C0271901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/124413">Feature record</a> | <a href="/medgen?term=%22Hypochromic%20microcytic%20anemia%22%5BClinical%20Features%5D%20OR%20124413%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_868731"><div><strong>Reduced alpha/beta synthesis ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868731</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.">C4023136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/868731">Feature record</a> | <a href="/medgen?term=%22Reduced%20alpha%2Fbeta%20synthesis%20ratio%22%5BClinical%20Features%5D%20OR%20868731%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypochromic microcytic anemia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced alpha/beta synthesis ratio</a></span></li></ul></li></ul></div></div>
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</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>
|
||
<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="matched_ds"><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">alpha 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=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/1843145" ref="tree=MeSH" title="MedGen record for Alpha-thalassemia and related diseases">Alpha-thalassemia and related diseases</a></span><ul><li><span class="matched_ds">alpha Thalassemia</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></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/34860784">Anemia in Pregnancy: Screening and Clinical Management Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanley AY,
|
||
Wallace JB,
|
||
Hernandez AM,
|
||
Spell JL</span><br />
|
||
<span class="medgenPMjournal">MCN Am J Matern Child Nurs</span>
|
||
2022 Jan-Feb 01;47(1):25-32.
|
||
doi: 10.1097/NMC.0000000000000787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34860784" target="_blank">34860784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30718211">Fetal anemia: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prefumo F,
|
||
Fichera A,
|
||
Fratelli N,
|
||
Sartori E</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2019 Jul;58:2-14.
|
||
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=(%22alpha%20thalassemia%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 (205)</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-Low-Moderate-Barts-ACT-Sheet.pdf" target="_blank">ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-Low-Moderate-Barts-Algorithm.pdf" target="_blank">ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FA + Barts Hb, Alpha (a) Thalassemia, 2012</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/HB-Screening-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009</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/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/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/19678601">Alpha and beta thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muncie HL Jr,
|
||
Campbell J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2009 Aug 15;80(4):339-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19678601" target="_blank">19678601</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18406222">Alpha-thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung WC,
|
||
Leung KY,
|
||
Lau ET,
|
||
Tang MH,
|
||
Chan V</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2008 Aug;13(4):215-22.
|
||
Epub 2008 Apr 10
|
||
doi: 10.1016/j.siny.2008.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18406222" target="_blank">18406222</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22alpha%20Thalassemia%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 (1111)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38182489">Αlpha-thalassemia: A practical overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musallam KM,
|
||
Cappellini MD,
|
||
Coates TD,
|
||
Kuo KHM,
|
||
Al-Samkari H,
|
||
Sheth S,
|
||
Viprakasit V,
|
||
Taher AT</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2024 Mar;64:101165.
|
||
Epub 2024 Jan 3
|
||
doi: 10.1016/j.blre.2023.101165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38182489" target="_blank">38182489</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 class="nl"><a target="_blank" href="/pubmed/29032940">Molecular basis of α-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farashi S,
|
||
Harteveld CL</span><br />
|
||
<span class="medgenPMjournal">Blood Cells Mol Dis</span>
|
||
2018 May;70:43-53.
|
||
Epub 2017 Sep 21
|
||
doi: 10.1016/j.bcmd.2017.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29032940" target="_blank">29032940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25390741">The α-thalassemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piel FB,
|
||
Weatherall DJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2014 Nov 13;371(20):1908-16.
|
||
doi: 10.1056/NEJMra1404415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25390741" target="_blank">25390741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19678601">Alpha and beta thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muncie HL Jr,
|
||
Campbell J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2009 Aug 15;80(4):339-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19678601" target="_blank">19678601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22alpha%20Thalassemia%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 (1572)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35950580">Thalassemia in Indonesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wahidiyat PA,
|
||
Sari TT,
|
||
Rahmartani LD,
|
||
Iskandar SD,
|
||
Pratanata AM,
|
||
Yapiy I,
|
||
Setianingsih I,
|
||
Atmakusuma TD,
|
||
Lubis AM</span><br />
|
||
<span class="medgenPMjournal">Hemoglobin</span>
|
||
2022 Jan;46(1):39-44.
|
||
doi: 10.1080/03630269.2021.2023565.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35950580" target="_blank">35950580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32194873">ATRX/EZH2 complex epigenetically regulates FADD/PARP1 axis, contributing to TMZ resistance in glioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han B,
|
||
Meng X,
|
||
Wu P,
|
||
Li Z,
|
||
Li S,
|
||
Zhang Y,
|
||
Zha C,
|
||
Ye Q,
|
||
Jiang C,
|
||
Cai J,
|
||
Jiang T</span><br />
|
||
<span class="medgenPMjournal">Theranostics</span>
|
||
2020;10(7):3351-3365.
|
||
Epub 2020 Feb 10
|
||
doi: 10.7150/thno.41219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32194873" target="_blank">32194873</a><a href="/pmc/articles/PMC7053195" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30718211">Fetal anemia: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prefumo F,
|
||
Fichera A,
|
||
Fratelli N,
|
||
Sartori E</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2019 Jul;58:2-14.
|
||
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/28423290">Sickle Cell Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piel FB,
|
||
Steinberg MH,
|
||
Rees DC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Apr 20;376(16):1561-1573.
|
||
doi: 10.1056/NEJMra1510865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28423290" target="_blank">28423290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21886666">Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohne E</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2011 Aug;108(31-32):532-40.
|
||
Epub 2011 Aug 8
|
||
doi: 10.3238/arztebl.2011.0532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21886666" target="_blank">21886666</a><a href="/pmc/articles/PMC3163784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22alpha%20Thalassemia%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 (245)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musallam KM,
|
||
Lombard L,
|
||
Kistler KD,
|
||
Arregui M,
|
||
Gilroy KS,
|
||
Chamberlain C,
|
||
Zagadailov E,
|
||
Ruiz K,
|
||
Taher AT</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Sep;98(9):1436-1451.
|
||
Epub 2023 Jun 26
|
||
doi: 10.1002/ajh.27006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37357829" target="_blank">37357829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34495151">Thalassemia, a human blood disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shafique F,
|
||
Ali S,
|
||
Almansouri T,
|
||
Van Eeden F,
|
||
Shafi N,
|
||
Khalid M,
|
||
Khawaja S,
|
||
Andleeb S,
|
||
Hassan MU</span><br />
|
||
<span class="medgenPMjournal">Braz J Biol</span>
|
||
2021;83:e246062.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1590/1519-6984.246062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34495151" target="_blank">34495151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27847257">New trend in the epidemiology of thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li CK</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2017 Feb;39:16-26.
|
||
Epub 2016 Oct 26
|
||
doi: 10.1016/j.bpobgyn.2016.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27847257" target="_blank">27847257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27183541">Laboratory diagnosis of thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brancaleoni V,
|
||
Di Pierro E,
|
||
Motta I,
|
||
Cappellini MD</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2016 May;38 Suppl 1:32-40.
|
||
Epub 2016 May 16
|
||
doi: 10.1111/ijlh.12527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27183541" target="_blank">27183541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22641398">Genetic modifiers of sickle cell disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinberg MH,
|
||
Sebastiani P</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2012 Aug;87(8):795-803.
|
||
Epub 2012 May 28
|
||
doi: 10.1002/ajh.23232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22641398" target="_blank">22641398</a><a href="/pmc/articles/PMC4562292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22alpha%20Thalassemia%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 (532)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musallam KM,
|
||
Lombard L,
|
||
Kistler KD,
|
||
Arregui M,
|
||
Gilroy KS,
|
||
Chamberlain C,
|
||
Zagadailov E,
|
||
Ruiz K,
|
||
Taher AT</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Sep;98(9):1436-1451.
|
||
Epub 2023 Jun 26
|
||
doi: 10.1002/ajh.27006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37357829" target="_blank">37357829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27183541">Laboratory diagnosis of thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brancaleoni V,
|
||
Di Pierro E,
|
||
Motta I,
|
||
Cappellini MD</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2016 May;38 Suppl 1:32-40.
|
||
Epub 2016 May 16
|
||
doi: 10.1111/ijlh.12527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27183541" target="_blank">27183541</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/8014969">Thalassaemia in Azerbaijan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuliev AM,
|
||
Rasulov IM,
|
||
Dadasheva T,
|
||
Schwarz EI,
|
||
Rosatelli C,
|
||
Saba L,
|
||
Meloni A,
|
||
Gemidjioglu E,
|
||
Petrou M,
|
||
Modell B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1994 Mar;31(3):209-12.
|
||
doi: 10.1136/jmg.31.3.209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8014969" target="_blank">8014969</a><a href="/pmc/articles/PMC1049744" target="_blank" class="PubMedFree">Free PMC Article</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=%22alpha%20Thalassemia%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 (800)</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/37851445">Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirkham JK,
|
||
Estepp JH,
|
||
Weiss MJ,
|
||
Rashkin SR</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2023 Oct 2;6(10):e2337484.
|
||
doi: 10.1001/jamanetworkopen.2023.37484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37851445" target="_blank">37851445</a><a href="/pmc/articles/PMC10585422" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37385374">Mirror syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biswas S,
|
||
Gomez J,
|
||
Horgan R,
|
||
Sibai BM,
|
||
Saad A,
|
||
Powel JE,
|
||
Al-Kouatly HB</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol MFM</span>
|
||
2023 Sep;5(9):101067.
|
||
Epub 2023 Jun 28
|
||
doi: 10.1016/j.ajogmf.2023.101067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37385374" target="_blank">37385374</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musallam KM,
|
||
Lombard L,
|
||
Kistler KD,
|
||
Arregui M,
|
||
Gilroy KS,
|
||
Chamberlain C,
|
||
Zagadailov E,
|
||
Ruiz K,
|
||
Taher AT</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Sep;98(9):1436-1451.
|
||
Epub 2023 Jun 26
|
||
doi: 10.1002/ajh.27006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37357829" target="_blank">37357829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34773506">Fracture prevalence in thalassemia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charoenngam N,
|
||
Rittiphairoj T,
|
||
Ponvilawan B</span><br />
|
||
<span class="medgenPMjournal">Arch Osteoporos</span>
|
||
2021 Nov 13;16(1):171.
|
||
doi: 10.1007/s11657-021-01026-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34773506" target="_blank">34773506</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=%22alpha%20Thalassemia%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 (16)</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">
|
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<div class="portlet mgSection" id="ID_113">
|
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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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
||
|
||
<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=C0002312%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (72)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A1%5F4" target="_blank">Protein analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (84)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002312%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (35)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0002312%5bDISCUI%5d" target="_blank">See all (119)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604131" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=846" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=alpha%20Thalassemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22alpha%20thalassemia%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(%22alpha%20Thalassemia%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><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-Low-Moderate-Barts-ACT-Sheet.pdf">ACMG ACT, 2023</a><div>ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-Low-Moderate-Barts-Algorithm.pdf">ACMG Algorithm, 2023</a><div>ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Alpha-Thalassemia-ACT-Sheet.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FA + Barts Hb, Alpha (a) Thalassemia, 2012</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/HB-Screening-Algorithm.pdf">ACMG Algorithm, 2009</a><div>American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=141800%20141850%20141900" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3039[geneid]" target="_blank">View HBA1 variations in ClinVar</a></li><li><a href="/clinvar/?term=3040[geneid]" target="_blank">View HBA2 variations in ClinVar</a></li><li><a href="/clinvar/?term=3043[geneid]" target="_blank">View HBB variations in ClinVar</a></li><li><a href="/nuccore/14523048,14523048,28380636" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=604131" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Alpha-Thalassemia/333" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/alpha_thalassemia_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=alpha%20Thalassemia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/621/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301608" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=alpha%20Thalassemia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=alpha%20Thalassemia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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