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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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||
<!--
|
||
UID=42400
|
||
ConceptID=C0019045
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemoglobinopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42400</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.">C0019045</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>Haemoglobinopathies; Hemoglobin disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hemoglobinopathy (80141007); Hemoglobin disease (80141007); Hemoglobin disorder (80141007); Globin abnormality (80141007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/109580095">HBB-LCR</a>, <a target="_blank" href="/gene/3043">HBB</a>, <a target="_blank" href="/gene/3040">HBA2</a>, <a target="_blank" href="/gene/3039">HBA1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0044348" target="_blank">MONDO:0044348</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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="matched_ds"><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">Hemoglobinopathy</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="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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/208860" ref="tree=MeSH" title="MedGen record for Hematopoietic and Lymphatic System Disorder">Hematopoietic and Lymphatic System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5483" ref="tree=MeSH" title="MedGen record for Hematologic disorder">Hematologic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/276575" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder">Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/760584" ref="tree=MeSH" title="MedGen record for Congenital hematological disorder">Congenital hematological disorder</a></span><ul><li><span class="matched_ds">Hemoglobinopathy</span><ul><li><span class="TLline"><a href="/medgen/287" ref="tree=MeSH" title="MedGen record for Hb SS disease">Hb SS disease</a></span><ul><li><span class="TLline"><a href="/medgen/196643" ref="tree=MeSH" title="MedGen record for Acute chest syndrome">Acute chest syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20750" ref="tree=MeSH" title="MedGen record for Sickle cell trait">Sickle cell trait</a></span></li><li><span class="TLline"><a href="/medgen/5496" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin C disease">Sickle cell-hemoglobin C disease</a></span></li><li><span class="TLline"><a href="/medgen/1388035" ref="tree=MeSH" title="MedGen record for Sickle Cell-SS Disease">Sickle Cell-SS Disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6789" ref="tree=MeSH" title="MedGen record for Hemoglobin C disease">Hemoglobin C disease</a></span></li><li><span class="TLline"><a href="/medgen/124416" ref="tree=MeSH" title="MedGen record for Hemoglobin D disease">Hemoglobin D disease</a></span></li><li><span class="TLline"><a href="/medgen/68658" ref="tree=MeSH" title="MedGen record for Hemoglobin E disease">Hemoglobin E disease</a></span></li><li><span class="TLline"><a href="/medgen/459439" ref="tree=MeSH" title="MedGen record for Hemoglobin Trait">Hemoglobin Trait</a></span><ul><li><span class="TLline"><a href="/medgen/453213" ref="tree=MeSH" title="MedGen record for Alpha Thalassemia Silent Carrier">Alpha Thalassemia Silent Carrier</a></span></li><li><span class="TLline"><a href="/medgen/99173" ref="tree=MeSH" title="MedGen record for Alpha trait thalassemia">Alpha trait thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452211" ref="tree=MeSH" title="MedGen record for Sickle cell-beta-thalassemia">Sickle cell-beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/452366" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin D disease">Sickle cell-hemoglobin D disease</a></span></li><li><span class="TLline"><a href="/medgen/1669602" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin E disease syndrome">Sickle cell-hemoglobin E disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468528" ref="tree=MeSH" title="MedGen record for Sickle cell-Hemoglobin O Arab disease">Sickle cell-Hemoglobin O Arab disease</a></span></li><li><span class="TLline"><a href="/medgen/389211" ref="tree=MeSH" title="MedGen record for Sickle cell-thalassemia disease">Sickle cell-thalassemia disease</a></span><ul><li><span class="TLline"><a href="/medgen/476096" ref="tree=MeSH" title="MedGen record for Sickle Beta 0 Thalassemia">Sickle Beta 0 Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/476098" ref="tree=MeSH" title="MedGen record for Sickle Beta Plus Thalassemia">Sickle Beta Plus Thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21121" ref="tree=MeSH" title="MedGen record for Thalassemia">Thalassemia</a></span><ul><li><span class="TLline"><a href="/medgen/1434" ref="tree=MeSH" title="MedGen record for alpha Thalassemia">alpha Thalassemia</a></span><ul><li><span class="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></li><li><span class="TLline"><a href="/medgen/6947" ref="tree=MeSH" title="MedGen record for Hydrops fetalis">Hydrops fetalis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2611" ref="tree=MeSH" title="MedGen record for beta Thalassemia">beta Thalassemia</a></span><ul><li><span class="TLline"><a href="/medgen/450544" ref="tree=MeSH" title="MedGen record for Beta thalassemia intermedia">Beta thalassemia intermedia</a></span></li><li><span class="TLline"><a href="/medgen/1001603" ref="tree=MeSH" title="MedGen record for Beta-thalassemia HBB/LCRB">Beta-thalassemia HBB/LCRB</a></span></li><li><span class="TLline"><a href="/medgen/283" ref="tree=MeSH" title="MedGen record for Beta-thalassemia major">Beta-thalassemia major</a></span></li><li><span class="TLline"><a href="/medgen/78790" ref="tree=MeSH" title="MedGen record for Delta-beta-thalassemia">Delta-beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/347036" ref="tree=MeSH" title="MedGen record for Dominant beta-thalassemia">Dominant beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/1644312" ref="tree=MeSH" title="MedGen record for Hemoglobin Lepore Syndrome">Hemoglobin Lepore Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82892" ref="tree=MeSH" title="MedGen record for Thalassemia intermedia">Thalassemia intermedia</a></span></li><li><span class="TLline"><a href="/medgen/450549" ref="tree=MeSH" title="MedGen record for Thalassemia minor">Thalassemia minor</a></span></li><li><span class="TLline"><a href="/medgen/1734754" ref="tree=MeSH" title="MedGen record for Transfusion Dependent Beta Thalassemia">Transfusion Dependent Beta Thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/459441" ref="tree=MeSH" title="MedGen record for Beta Thalassemia Plus Structural Variants">Beta Thalassemia Plus Structural Variants</a></span></li><li><span class="TLline"><a href="/medgen/78791" ref="tree=MeSH" title="MedGen record for delta Thalassemia">delta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/414290" ref="tree=MeSH" title="MedGen record for S-Beta Thalassemia">S-Beta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/1755933" ref="tree=MeSH" title="MedGen record for Transfusion Dependent Thalassemia">Transfusion Dependent Thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/883122" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis">Vaso-Occlusive Crisis</a></span><ul><li><span class="TLline"><a href="/medgen/1793693" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease">Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease</a></span></li><li><span class="TLline"><a href="/medgen/1793692" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis in Sickle Cell-SS Disease">Vaso-Occlusive Crisis in Sickle Cell-SS Disease</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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=10503&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hemoglobinopathy</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/37824153">Red Blood Cell Transfusion: 2023 AABB International Guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carson JL,
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Stanworth SJ,
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Guyatt G,
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Valentine S,
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Dennis J,
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Bakhtary S,
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Cohn CS,
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Dubon A,
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Grossman BJ,
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Gupta GK,
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Hess AS,
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Jacobson JL,
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Kaplan LJ,
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Lin Y,
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Metcalf RA,
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Murphy CH,
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Pavenski K,
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Prochaska MT,
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Raval JS,
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Salazar E,
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Saifee NH,
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Tobian AAR,
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So-Osman C,
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Waters J,
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Wood EM,
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Zantek ND,
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Pagano MB</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2023 Nov 21;330(19):1892-1902.
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doi: 10.1001/jama.2023.12914.
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<span class="bold">PMID: </span><a href="/pubmed/37824153" target="_blank">37824153</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33494878">Transfusion in Pediatric Patients: Review of Evidence-Based Guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mo YD,
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Delaney M</span><br />
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<span class="medgenPMjournal">Clin Lab Med</span>
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2021 Mar;41(1):1-14.
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doi: 10.1016/j.cll.2020.10.001.
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<span class="bold">PMID: </span><a href="/pubmed/33494878" target="_blank">33494878</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31990651">Sickle cell disease: A primary care update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Onimoe G,
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Rotz S</span><br />
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<span class="medgenPMjournal">Cleve Clin J Med</span>
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2020 Jan;87(1):19-27.
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Epub 2020 Jan 2
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doi: 10.3949/ccjm.87a.18051.
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<span class="bold">PMID: </span><a href="/pubmed/31990651" target="_blank">31990651</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemoglobinopathy%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 (169)</a></div></div>
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</div>
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<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
|
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to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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<div class="portlet mgSection" id="ID_103">
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<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/39482242">Hemoglobinopathies in the Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blankenhorn K,
|
||
Strumph K</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2024 Nov 1;25(11):e720-e728.
|
||
doi: 10.1542/neo.25-11-e720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39482242" target="_blank">39482242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35950586">Thalassemia in Sri Lanka.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Premawardhena AP,
|
||
Madushanka HDP</span><br />
|
||
<span class="medgenPMjournal">Hemoglobin</span>
|
||
2022 Jan;46(1):71-73.
|
||
doi: 10.1080/03630269.2022.2025826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35950586" target="_blank">35950586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33494878">Transfusion in Pediatric Patients: Review of Evidence-Based Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mo YD,
|
||
Delaney M</span><br />
|
||
<span class="medgenPMjournal">Clin Lab Med</span>
|
||
2021 Mar;41(1):1-14.
|
||
doi: 10.1016/j.cll.2020.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33494878" target="_blank">33494878</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/31823208">Laboratory Approach to Hemolytic Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamwal M,
|
||
Sharma P,
|
||
Das R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Jan;87(1):66-74.
|
||
Epub 2019 Dec 10
|
||
doi: 10.1007/s12098-019-03119-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31823208" target="_blank">31823208</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobinopathy%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 (784)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39482242">Hemoglobinopathies in the Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blankenhorn K,
|
||
Strumph K</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2024 Nov 1;25(11):e720-e728.
|
||
doi: 10.1542/neo.25-11-e720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39482242" target="_blank">39482242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33853856">Cerebrotendinous xanthomatosis revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baghbanian SM,
|
||
Mahdavi Amiri MR,
|
||
Majidi H</span><br />
|
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<span class="medgenPMjournal">Pract Neurol</span>
|
||
2021 Jun;21(3):243-245.
|
||
Epub 2021 Apr 14
|
||
doi: 10.1136/practneurol-2020-002895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33853856" target="_blank">33853856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33051316">Thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merkeley H,
|
||
Bolster L</span><br />
|
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<span class="medgenPMjournal">CMAJ</span>
|
||
2020 Oct 13;192(41):E1210.
|
||
doi: 10.1503/cmaj.191613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33051316" target="_blank">33051316</a><a href="/pmc/articles/PMC7588257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31823208">Laboratory Approach to Hemolytic Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamwal M,
|
||
Sharma P,
|
||
Das R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Jan;87(1):66-74.
|
||
Epub 2019 Dec 10
|
||
doi: 10.1007/s12098-019-03119-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31823208" target="_blank">31823208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29032940">Molecular basis of α-thalassemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Farashi S,
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Harteveld CL</span><br />
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<span class="medgenPMjournal">Blood Cells Mol Dis</span>
|
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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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobinopathy%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 (833)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37824153">Red Blood Cell Transfusion: 2023 AABB International Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carson JL,
|
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Stanworth SJ,
|
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Guyatt G,
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Valentine S,
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Dennis J,
|
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Bakhtary S,
|
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Cohn CS,
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Dubon A,
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Grossman BJ,
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Gupta GK,
|
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Hess AS,
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Jacobson JL,
|
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Kaplan LJ,
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Lin Y,
|
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Metcalf RA,
|
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Murphy CH,
|
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Pavenski K,
|
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Prochaska MT,
|
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Raval JS,
|
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Salazar E,
|
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Saifee NH,
|
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Tobian AAR,
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So-Osman C,
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Waters J,
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Wood EM,
|
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Zantek ND,
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Pagano MB</span><br />
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<span class="medgenPMjournal">JAMA</span>
|
||
2023 Nov 21;330(19):1892-1902.
|
||
doi: 10.1001/jama.2023.12914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37824153" target="_blank">37824153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35922667">CRISPR-Cas9-mediated gene editing of the BCL11A enhancer for pediatric β(0)/β(0) transfusion-dependent β-thalassemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Fu B,
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Liao J,
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Chen S,
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Li W,
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Wang Q,
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Hu J,
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Yang F,
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Hsiao S,
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Jiang Y,
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Wang L,
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Chen F,
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Zhang Y,
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Wang X,
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Li D,
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Liu M,
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Wu Y</span><br />
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<span class="medgenPMjournal">Nat Med</span>
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2022 Aug;28(8):1573-1580.
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Epub 2022 Aug 4
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doi: 10.1038/s41591-022-01906-z.
|
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<span class="bold">PMID: </span><a href="/pubmed/35922667" target="_blank">35922667</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33034214">What is the future of patient-reported outcomes in sickle-cell disease?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Singh SA,
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Bakshi N,
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Mahajan P,
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Morris CR</span><br />
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<span class="medgenPMjournal">Expert Rev Hematol</span>
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2020 Nov;13(11):1165-1173.
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Epub 2020 Oct 15
|
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doi: 10.1080/17474086.2020.1830370.
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<span class="bold">PMID: </span><a href="/pubmed/33034214" target="_blank">33034214</a><a href="/pmc/articles/PMC7722233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28189177">Sickle Cell Disease: A Brief Update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Azar S,
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Wong TE</span><br />
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<span class="medgenPMjournal">Med Clin North Am</span>
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2017 Mar;101(2):375-393.
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Epub 2016 Dec 14
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doi: 10.1016/j.mcna.2016.09.009.
|
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<span class="bold">PMID: </span><a href="/pubmed/28189177" target="_blank">28189177</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/23732853">Management of the thalassemias.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Olivieri NF,
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Brittenham GM</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
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2013 Jun 1;3(6)
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<span class="bold">PMID: </span><a href="/pubmed/23732853" target="_blank">23732853</a><a href="/pmc/articles/PMC3662352" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobinopathy%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 (408)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39089750">Advances in Hemoglobinopathies and Thalassemia Evaluation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Agarwal AM,
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Epub 2024 Jun 4
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<span class="bold">PMID: </span><a href="/pubmed/39089750" target="_blank">39089750</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/32886826">Changing patterns in the epidemiology of β-thalassemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kattamis A,
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Forni GL,
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Aydinok Y,
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Viprakasit V</span><br />
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<span class="medgenPMjournal">Eur J Haematol</span>
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2020 Dec;105(6):692-703.
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Epub 2020 Sep 21
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doi: 10.1111/ejh.13512.
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">James SL,
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<div class="nl"><a target="_blank" href="/pubmed/31560378">Global, Regional, and National Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life-Years for 29 Cancer Groups, 1990 to 2017: A Systematic Analysis for the Global Burden of Disease Study.</a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<span class="medgenPMjournal">Leuk Res</span>
|
||
2024 Jun;141:107505.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.leukres.2024.107505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38692232" target="_blank">38692232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32155272">Cardiomyopathy in Thalassemia: Quick Review from Cellular Aspects to Diagnosis and Current Treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghanavat M,
|
||
Haybar H,
|
||
Pezeshki SMS,
|
||
Shahjahani M,
|
||
Jodat H,
|
||
Elyasi M,
|
||
Saki N</span><br />
|
||
<span class="medgenPMjournal">Lab Med</span>
|
||
2020 Mar 10;51(2):143-150.
|
||
doi: 10.1093/labmed/lmz052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32155272" target="_blank">32155272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31340048">Expression of Blood Cells Associated CD Markers and Cardiovascular Diseases: Clinical Applications in Prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haybar H,
|
||
Maleki Behzad M,
|
||
Shahrabi S,
|
||
Ansari N,
|
||
Saki N</span><br />
|
||
<span class="medgenPMjournal">Lab Med</span>
|
||
2020 Mar 10;51(2):122-142.
|
||
doi: 10.1093/labmed/lmz049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31340048" target="_blank">31340048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26968552">Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafari M,
|
||
Kosaryan M,
|
||
Gill P,
|
||
Alipour A,
|
||
Shiran M,
|
||
Jalalli H,
|
||
Banihashemi A,
|
||
Fatahi F</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2016 Aug;95(8):1341-50.
|
||
Epub 2016 Mar 12
|
||
doi: 10.1007/s00277-016-2620-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26968552" target="_blank">26968552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22244869">Is female sex a risk factor for red blood cell alloimmunization after transfusion? A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verduin EP,
|
||
Brand A,
|
||
Schonewille H</span><br />
|
||
<span class="medgenPMjournal">Transfus Med Rev</span>
|
||
2012 Oct;26(4):342-53, 353.e1-5.
|
||
Epub 2012 Jan 13
|
||
doi: 10.1016/j.tmrv.2011.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22244869" target="_blank">22244869</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemoglobinopathy%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 (48)</a></div></div>
|
||
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|
||
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|
||
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|
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|
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<div class=" bottom">
|
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|
||
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|
||
|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
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<li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (6)</a></li>
|
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<li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A1%5F4" target="_blank">Protein analysis (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (18)</a></li>
|
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<li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
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<li><a href="/gtr/tests?term=C0019045%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0019045%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemoglobinopathy%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(%22Hemoglobinopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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