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1064 lines
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<meta name="keywords" content="C0684275, disease or syndrome, hema, hemophilia, 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="Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.\n\nThe major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by variants (also known as mutations) in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=146334
|
||
ConceptID=C0684275
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemophilia<span class="h1sub">(HEMA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146334</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.">C0684275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HEMA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hemophilia (90935002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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/2158">F9</a>, <a target="_blank" href="/gene/2157">F8</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018660" target="_blank">MONDO:0018660</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=448">ORPHA448</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.<br /><br />The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by variants (also known as mutations) in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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=C0684275[DISCUI]&test_type=Clinical" ref="ncbi_uid=146334">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=146334" ref="ncbi_uid=146334">V</a></span></span><span class="TLline">Hemophilia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272325[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=124426">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/124426" ref="tree=GTR&ncbi_uid=124426&link_uid=124426" title="View MedGen record for 'Acquired factor VIII deficiency disease'">Acquired factor VIII deficiency 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=C0008533[DISCUI]&test_type=Clinical" ref="ncbi_uid=945">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=945" target="_blank" href="/omim/306900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1495/" ref="ncbi_uid=945">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=945" ref="ncbi_uid=945">V</a></span></span><span class="TLline"><a href="/medgen/945" ref="tree=GTR&ncbi_uid=945&link_uid=945" title="View MedGen record for 'Hereditary factor IX deficiency disease'">Hereditary factor IX deficiency disease</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=C4016497[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=864934">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864934" target="_blank" href="/omim/300746">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=864934" ref="ncbi_uid=864934">V</a></span></span><span class="TLline"><a href="/medgen/864934" ref="tree=GTR&ncbi_uid=864934&link_uid=864934" title="View MedGen record for 'HEMOPHILIA B BRANDENBURG'">HEMOPHILIA B BRANDENBURG</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=C5848256[DISCUI]&test_type=Clinical" ref="ncbi_uid=1845499">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1845499" target="_blank" href="/omim/300746">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=1845499" ref="ncbi_uid=1845499">V</a></span></span><span class="TLline"><a href="/medgen/1845499" ref="tree=GTR&ncbi_uid=1845499&link_uid=1845499" title="View MedGen record for 'Hemophilia B leyden'">Hemophilia B leyden</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=CN043453[DISCUI]&test_type=Clinical" ref="ncbi_uid=431584">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=431584" ref="ncbi_uid=431584">V</a></span></span><span class="TLline"><a href="/medgen/431584" ref="tree=GTR&ncbi_uid=431584&link_uid=431584" title="View MedGen record for 'Hemophilia b(m)'">Hemophilia b(m)</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=C0019069[DISCUI]&test_type=Clinical" ref="ncbi_uid=5501">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5501" target="_blank" href="/omim/300841">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1404/" ref="ncbi_uid=5501">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5501" ref="ncbi_uid=5501">V</a></span></span><span class="TLline"><a href="/medgen/5501" ref="tree=GTR&ncbi_uid=5501&link_uid=5501" title="View MedGen record for 'Hereditary factor VIII deficiency disease'">Hereditary factor VIII deficiency disease</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=C1844137[DISCUI]&test_type=Clinical" ref="ncbi_uid=336105">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336105" target="_blank" href="/omim/306800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/336105" ref="tree=GTR&ncbi_uid=336105&link_uid=336105" title="View MedGen record for 'Hemophilia A with vascular abnormality'">Hemophilia A with vascular abnormality</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/543969" ref="tree=MeSH" title="MedGen record for Coagulation factor deficiency syndrome">Coagulation factor deficiency syndrome</a></span><ul><li><span class="matched_ds">Hemophilia</span><ul><li><span class="TLline"><a href="/medgen/124426" ref="tree=MeSH" title="MedGen record for Acquired factor VIII deficiency disease">Acquired factor VIII deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/1389268" ref="tree=MeSH" title="MedGen record for Factor VIII Inactivation">Factor VIII Inactivation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98305" ref="tree=MeSH" title="MedGen record for Acquired hemophilia B">Acquired hemophilia B</a></span><ul><li><span class="TLline"><a href="/medgen/1386056" ref="tree=MeSH" title="MedGen record for Factor IX Inactivation">Factor IX Inactivation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1386956" ref="tree=MeSH" title="MedGen record for Factor XI deficiency">Factor XI deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1376431" ref="tree=MeSH" title="MedGen record for Acquired factor XI deficiency">Acquired factor XI deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1378454" ref="tree=MeSH" title="MedGen record for Factor XI Inactivation">Factor XI Inactivation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8770" ref="tree=MeSH" title="MedGen record for Hereditary factor XI deficiency disease">Hereditary factor XI deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/945" ref="tree=MeSH" title="MedGen record for Hereditary factor IX deficiency disease">Hereditary factor IX deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/864934" ref="tree=MeSH" title="MedGen record for HEMOPHILIA B BRANDENBURG">HEMOPHILIA B BRANDENBURG</a></span></li><li><span class="TLline"><a href="/medgen/1845499" ref="tree=MeSH" title="MedGen record for Hemophilia B leyden">Hemophilia B leyden</a></span></li><li><span class="TLline"><a href="/medgen/431584" ref="tree=MeSH" title="MedGen record for Hemophilia b(m)">Hemophilia b(m)</a></span></li><li><span class="TLline"><a href="/medgen/1826003" ref="tree=MeSH" title="MedGen record for Mild hemophilia B">Mild hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/1842225" ref="tree=MeSH" title="MedGen record for Moderately severe hemophilia B">Moderately severe hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/1826004" ref="tree=MeSH" title="MedGen record for Severe hemophilia B">Severe hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/1843014" ref="tree=MeSH" title="MedGen record for Symptomatic form of hemophilia B in female carriers">Symptomatic form of hemophilia B in female carriers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5501" ref="tree=MeSH" title="MedGen record for Hereditary factor VIII deficiency disease">Hereditary factor VIII deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/336105" ref="tree=MeSH" title="MedGen record for Hemophilia A with vascular abnormality">Hemophilia A with vascular abnormality</a></span></li><li><span class="TLline"><a href="/medgen/543975" ref="tree=MeSH" title="MedGen record for Mild hemophilia A">Mild hemophilia A</a></span></li><li><span class="TLline"><a href="/medgen/543974" ref="tree=MeSH" title="MedGen record for Moderately severe hemophilia A">Moderately severe hemophilia A</a></span></li><li><span class="TLline"><a href="/medgen/543973" ref="tree=MeSH" title="MedGen record for Severe hemophilia A">Severe hemophilia A</a></span></li><li><span class="TLline"><a href="/medgen/1843218" ref="tree=MeSH" title="MedGen record for Symptomatic form of hemophilia A in female carriers">Symptomatic form of hemophilia A in female carriers</a></span></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=646&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hemophilia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36108649">The More Recent History of Hemophilia Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franchini M,
|
||
Mannucci PM</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2022 Nov;48(8):904-910.
|
||
Epub 2022 Sep 15
|
||
doi: 10.1055/s-0042-1756188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36108649" target="_blank">36108649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32744769">WFH Guidelines for the Management of Hemophilia, 3rd edition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava A,
|
||
Santagostino E,
|
||
Dougall A,
|
||
Kitchen S,
|
||
Sutherland M,
|
||
Pipe SW,
|
||
Carcao M,
|
||
Mahlangu J,
|
||
Ragni MV,
|
||
Windyga J,
|
||
Llinás A,
|
||
Goddard NJ,
|
||
Mohan R,
|
||
Poonnoose PM,
|
||
Feldman BM,
|
||
Lewis SZ,
|
||
van den Berg HM,
|
||
Pierce GF;
|
||
WFH Guidelines for the Management of Hemophilia panelists and co-authors</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2020 Aug;26 Suppl 6:1-158.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1111/hae.14046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32744769" target="_blank">32744769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32381574">International recommendations on the diagnosis and treatment of acquired hemophilia A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiede A,
|
||
Collins P,
|
||
Knoebl P,
|
||
Teitel J,
|
||
Kessler C,
|
||
Shima M,
|
||
Di Minno G,
|
||
d'Oiron R,
|
||
Salaj P,
|
||
Jiménez-Yuste V,
|
||
Huth-Kühne A,
|
||
Giangrande P</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2020 Jul;105(7):1791-1801.
|
||
Epub 2020 May 7
|
||
doi: 10.3324/haematol.2019.230771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32381574" target="_blank">32381574</a><a href="/pmc/articles/PMC7327664" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemophilia%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 (1110)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34197690">Hemophilic arthropathy: Current knowledge and future perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gualtierotti R,
|
||
Solimeno LP,
|
||
Peyvandi F</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2021 Sep;19(9):2112-2121.
|
||
Epub 2021 Jul 27
|
||
doi: 10.1111/jth.15444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34197690" target="_blank">34197690</a><a href="/pmc/articles/PMC8456897" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29077262">Gene therapy for hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pipe SW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2018 Feb;65(2)
|
||
Epub 2017 Oct 27
|
||
doi: 10.1002/pbc.26865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29077262" target="_blank">29077262</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28470674">Acquired hemophilia A: Updated review of evidence and treatment guidance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruse-Jarres R,
|
||
Kempton CL,
|
||
Baudo F,
|
||
Collins PW,
|
||
Knoebl P,
|
||
Leissinger CA,
|
||
Tiede A,
|
||
Kessler CM</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2017 Jul;92(7):695-705.
|
||
Epub 2017 Jun 5
|
||
doi: 10.1002/ajh.24777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28470674" target="_blank">28470674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22776238">Guidelines for the management of hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava A,
|
||
Brewer AK,
|
||
Mauser-Bunschoten EP,
|
||
Key NS,
|
||
Kitchen S,
|
||
Llinas A,
|
||
Ludlam CA,
|
||
Mahlangu JN,
|
||
Mulder K,
|
||
Poon MC,
|
||
Street A;
|
||
Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2013 Jan;19(1):e1-47.
|
||
Epub 2012 Jul 6
|
||
doi: 10.1111/j.1365-2516.2012.02909.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22776238" target="_blank">22776238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15060928">Haemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidler V</span><br />
|
||
<span class="medgenPMjournal">Br J Perioper Nurs</span>
|
||
2004 Mar;14(3):110-3.
|
||
doi: 10.1177/175045890401400302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15060928" target="_blank">15060928</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemophilia%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 (7412)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34535289">Acquired Hemophilia A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pai M</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2021 Dec;35(6):1131-1142.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1016/j.hoc.2021.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34535289" target="_blank">34535289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33527471">Principles of care for acquired hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolan G,
|
||
Benson G,
|
||
Bowyer A,
|
||
Eichler H,
|
||
Hermans C,
|
||
Jiménez-Yuste V,
|
||
Ljung R,
|
||
Pollard D,
|
||
Santagostino E,
|
||
Šalek SZ</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Jun;106(6):762-773.
|
||
Epub 2021 Mar 18
|
||
doi: 10.1111/ejh.13592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33527471" target="_blank">33527471</a><a href="/pmc/articles/PMC8252574" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25832961">Acquired hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kimura K,
|
||
Kuriyama A,
|
||
Kuninaga N,
|
||
Sasaki A</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemophilia%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 (4676)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38253366">The clinical course of acute, subacute and persistent low back pain: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wallwork SB,
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Braithwaite FA,
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O'Keeffe M,
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Travers MJ,
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Summers SJ,
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Lange B,
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Hince DA,
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Costa LOP,
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Menezes Costa LDC,
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Chiera B,
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Moseley GL</span><br />
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<span class="medgenPMjournal">CMAJ</span>
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<span class="bold">PMID: </span><a href="/pubmed/38253366" target="_blank">38253366</a><a href="/pmc/articles/PMC10805138" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38066708">Efficacy/effectiveness and safety of emicizumab prophylaxis of people with hemophilia A: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Muniz RL,
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Camelo RM,
|
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Araújo MS,
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Barbosa MM,
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Guerra AA,
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Acurcio FA,
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Alvares-Teodoro J</span><br />
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<span class="medgenPMjournal">Expert Rev Hematol</span>
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2023 Jul-Dec;16(12):1087-1097.
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Epub 2023 Dec 18
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doi: 10.1080/17474086.2023.2293096.
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<span class="bold">PMID: </span><a href="/pubmed/38066708" target="_blank">38066708</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35486344">Role of inflammatory markers in the diagnosis of vascular contributions to cognitive impairment and dementia: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Custodero C,
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Ciavarella A,
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Panza F,
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Gnocchi D,
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Lenato GM,
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Lee J,
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Mazzocca A,
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Sabbà C,
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Solfrizzi V</span><br />
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<span class="medgenPMjournal">Geroscience</span>
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2022 Jun;44(3):1373-1392.
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Epub 2022 Apr 29
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doi: 10.1007/s11357-022-00556-w.
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<span class="bold">PMID: </span><a href="/pubmed/35486344" target="_blank">35486344</a><a href="/pmc/articles/PMC9213626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/34412085">Human coagulation factor IX: a systematic review of its characteristics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yin R,
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Liu C</span><br />
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<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
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doi: 10.1097/MBC.0000000000001076.
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<span class="bold">PMID: </span><a href="/pubmed/34412085" target="_blank">34412085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30124085">Hip arthroplasty in haemophilia: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Parsa A,
|
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Azizbaig Mohajer M,
|
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Mirzaie M</span><br />
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<span class="medgenPMjournal">Hip Int</span>
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2018 Sep;28(5):459-467.
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<span class="bold">PMID: </span><a href="/pubmed/30124085" target="_blank">30124085</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemophilia%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 (254)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
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<div class=" bottom">
|
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|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<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=C0684275%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0684275%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0684275%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0684275%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0684275%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0684275%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0684275%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=448" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hemophilia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemophilia%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(%22Hemophilia%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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