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<meta name="keywords" content="C0005283, beta thalassemia, beta thalassemia intermedia, beta thalassemia minor, beta thalassemia syndrome, beta thalassemias, beta type microcytemia, beta type microcytemias, beta type thalassemia, beta type thalassemias, beta-thalassemia, bthal, cooley's anemia, disease or syndrome, erythroblastic anaemia, erythroblastic anemia, hbb, hbb-lcr, mediterranean anemia, microcytemia, beta type, microcytemias, beta type, thalassemia major, thalassemia, beta, thalassemia, beta type, thalassemia, hispanic gamma-delta-beta, thalassemias, beta, thalassemias, beta type, thalassemias, beta-, type microcytemia, beta, type microcytemias, beta, type thalassemia, beta, type thalassemias, beta, 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="Beta-thalassemia (ß-thalassemia) has two clinically significant forms, ß-thalassemia major and ß-thalassemia intermedia, caused by absent or reduced synthesis of the hemoglobin subunit beta (beta globin chain). Individuals with ß-thalassemia major present between ages six and 24 months with pallor due to severe anemia, poor weight gain, stunted growth, mild jaundice, and hepatosplenomegaly. Feeding problems, diarrhea, irritability, and recurrent bouts of fever may occur. Treatment with regular red blood cell transfusions and iron chelation therapy allows for normal growth and development and improves prognosis. Long-term complications associated with iron overload include stunted growth, dilated cardiomyopathy, liver disease, and endocrinopathies. Individuals with ß-thalassemia intermedia have a more variable age of presentation due to milder anemia that does not require regular red blood cell transfusions from early childhood. Additional clinical features may include jaundice, cholelithiasis, hepatosplenomegaly, skeletal changes (long bone deformities, characteristic craniofacial features, and osteoporosis), leg ulcers, pulmonary hypertension, extramedullary masses of hyperplastic erythroid marrow, and increased risk of thrombotic complications. Individuals with ß-thalassemia intermedia are at risk for iron overload secondary to increased intestinal absorption of iron as a result of dysregulation of iron metabolism caused by ineffective erythropoiesis." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=2611
|
||
ConceptID=C0005283
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">beta Thalassemia<span class="h1sub">(BTHAL)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2611</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.">C0005283</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>BTHAL; Cooley's anemia; Erythroblastic anemia; Mediterranean anemia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>beta thalassemia (65959000); Beta thalassemia (65959000); Beta thalassemia syndrome (65959000)</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="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the 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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant 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="HBB - ID: 3043 - NCBI Gene" href="/gene/3043" class="medgenPMinfo">HBB</a> (11p15.4); <a target="_blank" title="HBB-LCR - ID: 109580095 - NCBI Gene" href="/gene/109580095" class="medgenPMinfo">HBB-LCR</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:0019402" target="_blank">MONDO:0019402</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/141900" target="_blank">141900</a>; <a href="https://omim.org/entry/613985" target="_blank">613985</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=848">ORPHA848</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_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/NBK1426" target="_blank">Beta-Thalassemia</a></div><div>Beta-thalassemia (β-thalassemia) has two clinically significant forms, β-thalassemia major and β-thalassemia intermedia, caused by absent or reduced synthesis of the hemoglobin subunit beta (beta globin chain). Individuals with β-thalassemia major present between ages six and 24 months with pallor due to severe anemia, poor weight gain, stunted growth, mild jaundice, and hepatosplenomegaly. Feeding problems, diarrhea, irritability, and recurrent bouts of fever may occur. Treatment with regular red blood cell transfusions and iron chelation therapy allows for normal growth and development and improves prognosis. Long-term complications associated with iron overload include stunted growth, dilated cardiomyopathy, liver disease, and endocrinopathies. Individuals with β-thalassemia intermedia have a more variable age of presentation due to milder anemia that does not require regular red blood cell transfusions from early childhood. Additional clinical features may include jaundice, cholelithiasis, hepatosplenomegaly, skeletal changes (long bone deformities, characteristic craniofacial features, and osteoporosis), leg ulcers, pulmonary hypertension, extramedullary masses of hyperplastic erythroid marrow, and increased risk of thrombotic complications. Individuals with β-thalassemia intermedia are at risk for iron overload secondary to increased intestinal absorption of iron as a result of dysregulation of iron metabolism caused by ineffective erythropoiesis. [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/NBK1426#b-thal.Summary" target="NBK1426">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.GeneReview_Scope" target="NBK1426">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Diagnosis" target="NBK1426">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Clinical_Characteristics" target="NBK1426">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Genetically_Related_Allelic_Disor" target="NBK1426">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Differential_Diagnosis" target="NBK1426">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Management" target="NBK1426">Management</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Genetic_Counseling" target="NBK1426">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Resources" target="NBK1426">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Molecular_Genetics" target="NBK1426">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.Chapter_Notes" target="NBK1426">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1426#b-thal.References" target="NBK1426">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Arielle L Langer <a href="/books/NBK1426" target="NBK1426" title="NCBI Bookshelf: Beta-Thalassemia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.<br /><br />In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.<br /><br />Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as transfusion-dependent thalassemia or Cooley's anemia) and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). Of the two types, thalassemia major is more severe.<br /><br />The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Puberty is delayed in some adolescents with thalassemia major. <br /><br />Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.<br /><br />Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth, bone abnormalities, and an increased risk of developing abnormal blood clots. <a target="_blank" href="https://medlineplus.gov/genetics/condition/beta-thalassemia">https://medlineplus.gov/genetics/condition/beta-thalassemia</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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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_868732"><div><strong>Reduced beta/alpha synthesis ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868732</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.">C4023137</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 beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/868732">Feature record</a> | <a href="/medgen?term=%22Reduced%20beta%2Falpha%20synthesis%20ratio%22%5BClinical%20Features%5D%20OR%20868732%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_868732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced beta/alpha 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>
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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><li><a href="#tabORDO">Orphanet</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="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="matched_ds"><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">beta 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=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/1826095" ref="tree=MeSH" title="MedGen record for Beta-thalassemia and related diseases">Beta-thalassemia and related diseases</a></span><ul><li><span class="matched_ds">beta Thalassemia</span><ul><li><span class="TLline"><a href="/medgen/450544" ref="tree=MeSH" title="MedGen record for Beta thalassemia intermedia">Beta thalassemia intermedia</a></span></li><li><span class="TLline"><a href="/medgen/1001603" ref="tree=MeSH" title="MedGen record for Beta-thalassemia HBB/LCRB">Beta-thalassemia HBB/LCRB</a></span></li><li><span class="TLline"><a href="/medgen/283" ref="tree=MeSH" title="MedGen record for Beta-thalassemia major">Beta-thalassemia major</a></span></li><li><span class="TLline"><a href="/medgen/78790" ref="tree=MeSH" title="MedGen record for Delta-beta-thalassemia">Delta-beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/347036" ref="tree=MeSH" title="MedGen record for Dominant beta-thalassemia">Dominant beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/1644312" ref="tree=MeSH" title="MedGen record for Hemoglobin Lepore Syndrome">Hemoglobin Lepore Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82892" ref="tree=MeSH" title="MedGen record for Thalassemia intermedia">Thalassemia intermedia</a></span></li><li><span class="TLline"><a href="/medgen/450549" ref="tree=MeSH" title="MedGen record for Thalassemia minor">Thalassemia minor</a></span></li><li><span class="TLline"><a href="/medgen/1734754" ref="tree=MeSH" title="MedGen record for Transfusion Dependent Beta Thalassemia">Transfusion Dependent Beta Thalassemia</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=51&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">beta Thalassemia</span> in Orphanet.</div></div></div>
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</div>
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||
<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>
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<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,
|
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Wallace JB,
|
||
Hernandez AM,
|
||
Spell JL</span><br />
|
||
<span class="medgenPMjournal">MCN Am J Matern Child Nurs</span>
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||
2022 Jan-Feb 01;47(1):25-32.
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||
doi: 10.1097/NMC.0000000000000787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34860784" target="_blank">34860784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34738740">Current status of beta-thalassemia and its treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali S,
|
||
Mumtaz S,
|
||
Shakir HA,
|
||
Khan M,
|
||
Tahir HM,
|
||
Mumtaz S,
|
||
Mughal TA,
|
||
Hassan A,
|
||
Kazmi SAR,
|
||
Sadia,
|
||
Irfan M,
|
||
Khan MA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Dec;9(12):e1788.
|
||
Epub 2021 Nov 5
|
||
doi: 10.1002/mgg3.1788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34738740" target="_blank">34738740</a><a href="/pmc/articles/PMC8683628" target="_blank" class="PubMedFree">Free PMC Article</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=(%22beta%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 (635)</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/Beta-Thalassemia-Algorithm.pdf" target="_blank">ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Beta-Thalassemia-Major-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Hemoglobin-E-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FEA, Hemoglobin E/Beta Plus Thalassemia, 2023</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/35289581">Alpha- and Beta-thalassemia: Rapid Evidence Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baird DC,
|
||
Batten SH,
|
||
Sparks SK</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Mar 1;105(3):272-280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35289581" target="_blank">35289581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32886826">Changing patterns in the epidemiology of β-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kattamis A,
|
||
Forni GL,
|
||
Aydinok Y,
|
||
Viprakasit V</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2020 Dec;105(6):692-703.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/ejh.13512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32886826" target="_blank">32886826</a><a href="/pmc/articles/PMC7692954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20098328">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao A,
|
||
Galanello R</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Feb;12(2):61-76.
|
||
doi: 10.1097/GIM.0b013e3181cd68ed.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20098328" target="_blank">20098328</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=%22beta%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 (4107)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33626255">β-Thalassemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taher AT,
|
||
Musallam KM,
|
||
Cappellini MD</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Feb 25;384(8):727-743.
|
||
doi: 10.1056/NEJMra2021838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33626255" target="_blank">33626255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32886826">Changing patterns in the epidemiology of β-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kattamis A,
|
||
Forni GL,
|
||
Aydinok Y,
|
||
Viprakasit V</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2020 Dec;105(6):692-703.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/ejh.13512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32886826" target="_blank">32886826</a><a href="/pmc/articles/PMC7692954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27811859">β-Thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Origa R</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2017 Jun;19(6):609-619.
|
||
Epub 2016 Nov 3
|
||
doi: 10.1038/gim.2016.173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27811859" target="_blank">27811859</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/16162884">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rund D,
|
||
Rachmilewitz E</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2005 Sep 15;353(11):1135-46.
|
||
doi: 10.1056/NEJMra050436.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16162884" target="_blank">16162884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22beta%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 (3924)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38786024">CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurent M,
|
||
Geoffroy M,
|
||
Pavani G,
|
||
Guiraud S</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2024 May 8;13(10)
|
||
doi: 10.3390/cells13100800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38786024" target="_blank">38786024</a><a href="/pmc/articles/PMC11119143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38454604">Autologous gene therapy for hemoglobinopathies: From bench to patient's bedside.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Locatelli F,
|
||
Cavazzana M,
|
||
Frangoul H,
|
||
Fuente J,
|
||
Algeri M,
|
||
Meisel R</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2024 May 1;32(5):1202-1218.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1016/j.ymthe.2024.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38454604" target="_blank">38454604</a><a href="/pmc/articles/PMC11081872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36907614">Emerging Therapies in β-Thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bou-Fakhredin R,
|
||
Kuo KHM,
|
||
Taher AT</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2023 Apr;37(2):449-462.
|
||
doi: 10.1016/j.hoc.2022.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36907614" target="_blank">36907614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29458736">Emerging Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerra A,
|
||
Musallam KM,
|
||
Taher AT,
|
||
Rivella S</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2018 Apr;32(2):343-352.
|
||
Epub 2017 Dec 15
|
||
doi: 10.1016/j.hoc.2017.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29458736" target="_blank">29458736</a><a href="/pmc/articles/PMC5823282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23143785">Therapeutic roles of curcumin: lessons learned from clinical trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta SC,
|
||
Patchva S,
|
||
Aggarwal BB</span><br />
|
||
<span class="medgenPMjournal">AAPS J</span>
|
||
2013 Jan;15(1):195-218.
|
||
Epub 2012 Nov 10
|
||
doi: 10.1208/s12248-012-9432-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23143785" target="_blank">23143785</a><a href="/pmc/articles/PMC3535097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22beta%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 (2552)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34738740">Current status of beta-thalassemia and its treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali S,
|
||
Mumtaz S,
|
||
Shakir HA,
|
||
Khan M,
|
||
Tahir HM,
|
||
Mumtaz S,
|
||
Mughal TA,
|
||
Hassan A,
|
||
Kazmi SAR,
|
||
Sadia,
|
||
Irfan M,
|
||
Khan MA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Dec;9(12):e1788.
|
||
Epub 2021 Nov 5
|
||
doi: 10.1002/mgg3.1788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34738740" target="_blank">34738740</a><a href="/pmc/articles/PMC8683628" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32886826">Changing patterns in the epidemiology of β-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kattamis A,
|
||
Forni GL,
|
||
Aydinok Y,
|
||
Viprakasit V</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2020 Dec;105(6):692-703.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/ejh.13512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32886826" target="_blank">32886826</a><a href="/pmc/articles/PMC7692954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29807575">Monogenic diseases in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venugopal A,
|
||
Chandran M,
|
||
Eruppakotte N,
|
||
Kizhakkillach S,
|
||
Breezevilla SC,
|
||
Vellingiri B</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2018 Apr-Jun;776:23-31.
|
||
Epub 2018 Mar 17
|
||
doi: 10.1016/j.mrrev.2018.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29807575" target="_blank">29807575</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/21813448">How I treat thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rachmilewitz EA,
|
||
Giardina PJ</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2011 Sep 29;118(13):3479-88.
|
||
Epub 2011 Aug 2
|
||
doi: 10.1182/blood-2010-08-300335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21813448" target="_blank">21813448</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22beta%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 (1643)</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/36907604">Fetal Hemoglobin Regulation in Beta-Thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu HY,
|
||
Orkin SH,
|
||
Sankaran VG</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2023 Apr;37(2):301-312.
|
||
doi: 10.1016/j.hoc.2022.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36907604" target="_blank">36907604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34766559">Molecular genetics of β-thalassemia: A narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaing TH,
|
||
Chang TY,
|
||
Chen SH,
|
||
Lin CW,
|
||
Wen YC,
|
||
Chiu CC</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Nov 12;100(45):e27522.
|
||
doi: 10.1097/MD.0000000000027522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34766559" target="_blank">34766559</a><a href="/pmc/articles/PMC8589257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29127676">Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thein SL</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;1013:27-57.
|
||
doi: 10.1007/978-1-4939-7299-9_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29127676" target="_blank">29127676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10872474">Beta-thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thein SL</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1998 Mar;11(1):91-126.
|
||
doi: 10.1016/s0950-3536(98)80071-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10872474" target="_blank">10872474</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22beta%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 (2704)</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/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/33317358">β-Thalassemia Major and Coronavirus-19, Mortality and Morbidity: a Systematic Review Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafari M,
|
||
Rad MTS,
|
||
Mohseni F,
|
||
Nikbakht N</span><br />
|
||
<span class="medgenPMjournal">Hemoglobin</span>
|
||
2021 Jan;45(1):1-4.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1080/03630269.2020.1857266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33317358" target="_blank">33317358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28786080">Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Algiraigri AH,
|
||
Kassam A</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2017 Dec;106(6):748-756.
|
||
Epub 2017 Aug 7
|
||
doi: 10.1007/s12185-017-2307-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28786080" target="_blank">28786080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28408107">Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Algiraigri AH,
|
||
Wright NAM,
|
||
Paolucci EO,
|
||
Kassam A</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Stem Cell Ther</span>
|
||
2017 Sep;10(3):116-125.
|
||
Epub 2017 Apr 6
|
||
doi: 10.1016/j.hemonc.2017.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28408107" target="_blank">28408107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27390837">β-Thalassemia and ocular implications: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liaska A,
|
||
Petrou P,
|
||
Georgakopoulos CD,
|
||
Diamanti R,
|
||
Papaconstantinou D,
|
||
Kanakis MG,
|
||
Georgalas I</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 Jul 8;16:102.
|
||
doi: 10.1186/s12886-016-0285-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27390837" target="_blank">27390837</a><a href="/pmc/articles/PMC4938965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22beta%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 (85)</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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</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=C0005283%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (57)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A1%5F4" target="_blank">Protein analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (75)</a></li>
|
||
<li><a href="/gtr/tests?term=C0005283%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (24)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0005283%5bDISCUI%5d" target="_blank">See all (111)</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="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=848" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=beta%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=(%22beta%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(%22beta%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/Beta-Thalassemia-Algorithm.pdf">ACMG Algorithm, 2023</a><div>ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Beta-Thalassemia-Major-ACT-Sheet.pdf">ACMG ACT, 2023</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Hemoglobin-E-ACT-Sheet.pdf">ACMG ACT, 2023</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FEA, Hemoglobin E/Beta Plus Thalassemia, 2023</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=141900%20152424" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3043[geneid]" target="_blank">View HBB variations in ClinVar</a></li><li><a href="/clinvar/?term=109580095[geneid]" target="_blank">View HBB-LCR variations in ClinVar</a></li><li><a href="/nuccore/28380636" target="_blank">RefSeqGene</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/Beta+Thalassemia/814" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/beta_thalassemia_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=beta%20Thalassemia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/beta-thalassemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/871/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/20301599" 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=beta%20Thalassemia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=beta%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>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=2611" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=2611" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0005283[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0005283[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=2611" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
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