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<meta name="keywords" content="C1865616, disease or syndrome, hamp, hamp hemochromatosis type 2, hamp-related juvenile hemochromatosis, hemochromatosis type 2 caused by mutation in hamp, hemochromatosis type 2b, hemochromatosis, type 2b, hfe2b, 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="Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=356040
ConceptID=C1865616
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemochromatosis type 2B<span class="h1sub">(HFE2B)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356040</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)&#10;Click for more information.">C1865616</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>HAMP-Related Juvenile Hemochromatosis; HFE2B</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="HAMP - ID: 57817 - NCBI Gene" href="/gene/57817" class="medgenPMinfo">HAMP</a> (19q13.12)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013220" target="_blank">MONDO:0013220</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/613313" target="_blank">613313</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1170" target="_blank">Juvenile Hemochromatosis</a></div><div>Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1170#jh.Summary" target="NBK1170">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Diagnosis" target="NBK1170">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Clinical_Characteristics" target="NBK1170">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Genetically_Related_Allelic_Disorders" target="NBK1170">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Differential_Diagnosis" target="NBK1170">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Management" target="NBK1170">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Genetic_Counseling" target="NBK1170">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Resources" target="NBK1170">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Molecular_Genetics" target="NBK1170">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.References" target="NBK1170">References</a>  |  <a class="medgenPMinfo" href="/books/NBK1170#jh.Chapter_Notes" target="NBK1170">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Alberto Piperno  |  Francesca Bertola  |  Angela Bentivegna   <a href="/books/NBK1170" target="NBK1170" title="NCBI Bookshelf: Juvenile Hemochromatosis">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (606464). HFE2 is genetically heterogeneous (see HFE2A, 602390).  <a target="_blank" href="http://www.omim.org/entry/613313">http://www.omim.org/entry/613313</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_115919"><div><strong>Secondary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115919</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)&#10;Click for more information.">C0232940</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115919">Feature record</a> | <a href="/medgen?term=%22Secondary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115919%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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)&#10;Click for more information.">C0018802</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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)&#10;Click for more information.">C0878544</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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)&#10;Click for more information.">C0019209</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased size of the liver.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7368"><div><strong>Cirrhosis of liver</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7368</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)&#10;Click for more information.">C0023890</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7368">Feature record</a> | <a href="/medgen?term=%22Cirrhosis%20of%20liver%22%5BClinical%20Features%5D%20OR%207368%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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)&#10;Click for more information.">C0239946</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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)&#10;Click for more information.">C0002871</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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)&#10;Click for more information.">C0038002</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57739"><div><strong>Increased circulating iron concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57739</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)&#10;Click for more information.">C0151900</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of iron in the blood circulation is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57739">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20iron%20concentration%22%5BClinical%20Features%5D%20OR%2057739%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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)&#10;Click for more information.">C0235996</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_69130"><div><strong>Increased circulating ferritin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69130</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)&#10;Click for more information.">C0241013</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased concentration of ferritin in the blood circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69130">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20ferritin%20concentration%22%5BClinical%20Features%5D%20OR%2069130%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868498"><div><strong>Elevated transferrin saturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868498</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)&#10;Click for more information.">C4022892</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An above normal level of saturation of serum transferrin with iron.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868498">Feature record</a> | <a href="/medgen?term=%22Elevated%20transferrin%20saturation%22%5BClinical%20Features%5D%20OR%20868498%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</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)&#10;Click for more information.">C0162834</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5711"><div><strong>Hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5711</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)&#10;Click for more information.">C0020619</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased functionality of the gonad.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5711">Feature record</a> | <a href="/medgen?term=%22Hypogonadism%22%5BClinical%20Features%5D%20OR%205711%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated transferrin saturation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating ferritin concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating iron concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis of liver</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadism</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary amenorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</a></span></li></ul></li></ul></div></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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0392514[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=140272">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140272" target="_blank" href="/omim/235200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1440/" ref="ncbi_uid=140272">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=140272" ref="ncbi_uid=140272">V</a></span></span><span class="TLline"><a href="/medgen/140272" ref="tree=GTR&amp;ncbi_uid=140272&amp;link_uid=140272" title="View MedGen record for 'Hereditary hemochromatosis'">Hereditary hemochromatosis</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=C3469186[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=854011">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854011" target="_blank" href="/omim/235200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1440/" ref="ncbi_uid=854011">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=854011" ref="ncbi_uid=854011">V</a></span></span><span class="TLline"><a href="/medgen/854011" ref="tree=GTR&amp;ncbi_uid=854011&amp;link_uid=854011" title="View MedGen record for 'Hemochromatosis type 1'">Hemochromatosis type 1</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=C1858664[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=388114">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1858664[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=388114">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=388114" target="_blank" href="/omim/604250">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1349/" ref="ncbi_uid=388114">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=388114" ref="ncbi_uid=388114">V</a></span></span><span class="TLline"><a href="/medgen/388114" ref="tree=GTR&amp;ncbi_uid=388114&amp;link_uid=388114" title="View MedGen record for 'Hemochromatosis type 3'">Hemochromatosis type 3</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=C1853733[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=340044">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1853733[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=340044">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340044" target="_blank" href="/omim/604653">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&amp;from_uid=340044" ref="ncbi_uid=340044">V</a></span></span><span class="TLline"><a href="/medgen/340044" ref="tree=GTR&amp;ncbi_uid=340044&amp;link_uid=340044" title="View MedGen record for 'Hemochromatosis type 4'">Hemochromatosis type 4</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=C1851316[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=341982">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1851316[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=341982">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341982" target="_blank" href="/omim/134770">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&amp;from_uid=341982" ref="ncbi_uid=341982">V</a></span></span><span class="TLline"><a href="/medgen/341982" ref="tree=GTR&amp;ncbi_uid=341982&amp;link_uid=341982" title="View MedGen record for 'Hemochromatosis type 5'">Hemochromatosis type 5</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=C0268060[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82769">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82769" target="_blank" href="/omim/602390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1170/" ref="ncbi_uid=82769">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82769" ref="ncbi_uid=82769">V</a></span></span><span class="TLline"><a href="/medgen/82769" ref="tree=GTR&amp;ncbi_uid=82769&amp;link_uid=82769" title="View MedGen record for 'Juvenile hemochromatosis'">Juvenile hemochromatosis</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=C1865614[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=356321">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1865614[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=356321">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356321" target="_blank" href="/omim/602390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1170/" ref="ncbi_uid=356321">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=356321" ref="ncbi_uid=356321">V</a></span></span><span class="TLline"><a href="/medgen/356321" ref="tree=GTR&amp;ncbi_uid=356321&amp;link_uid=356321" title="View MedGen record for 'Hemochromatosis type 2A'">Hemochromatosis type 2A</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865616[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=356040">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1865616[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=356040">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356040" target="_blank" href="/omim/606464">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1170/" ref="ncbi_uid=356040">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=356040" ref="ncbi_uid=356040">V</a></span></span><span class="TLline">Hemochromatosis type 2B</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/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/6325" ref="tree=MeSH" title="MedGen record for Inborn metal metabolism disorder">Inborn metal metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5492" ref="tree=MeSH" title="MedGen record for Bronze diabetes">Bronze diabetes</a></span><ul><li><span class="TLline"><a href="/medgen/140272" ref="tree=MeSH" title="MedGen record for Hereditary hemochromatosis">Hereditary hemochromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/82769" ref="tree=MeSH" title="MedGen record for Juvenile hemochromatosis">Juvenile hemochromatosis</a></span><ul><li><span class="matched_ds">Hemochromatosis type 2B</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/29134618">The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kawabata H</span><br />
<span class="medgenPMjournal">Int J Hematol</span>
2018 Jan;107(1):31-43.
Epub 2017 Nov 13
doi: 10.1007/s12185-017-2365-3.
<span class="bold">PMID: </span><a href="/pubmed/29134618" target="_blank">29134618</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hemochromatosis%20type%202b)%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 (1)</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/29134618">The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kawabata H</span><br />
<span class="medgenPMjournal">Int J Hematol</span>
2018 Jan;107(1):31-43.
Epub 2017 Nov 13
doi: 10.1007/s12185-017-2365-3.
<span class="bold">PMID: </span><a href="/pubmed/29134618" target="_blank">29134618</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22098610">Clinical impact of HFE mutations in Japanese patients with chronic hepatitis C.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishizu Y,
Katano Y,
Honda T,
Hayashi K,
Ishigami M,
Itoh A,
Hirooka Y,
Nakano I,
Goto H</span><br />
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
2012 Jun;27(6):1112-6.
doi: 10.1111/j.1440-1746.2011.06976.x.
<span class="bold">PMID: </span><a href="/pubmed/22098610" target="_blank">22098610</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17951290">Global sequencing approach for characterizing the molecular background of hereditary iron disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cunat S,
Giansily-Blaizot M,
Bismuth M,
Blanc F,
Dereure O,
Larrey D,
Quellec AL,
Pouderoux P,
Rose C,
Raingeard I,
Renard E,
Schved JF,
Aguilar-Martinez P;
CHU Montpellier AOI 2004 Working Group</span><br />
<span class="medgenPMjournal">Clin Chem</span>
2007 Dec;53(12):2060-9.
Epub 2007 Oct 19
doi: 10.1373/clinchem.2007.090605.
<span class="bold">PMID: </span><a href="/pubmed/17951290" target="_blank">17951290</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemochromatosis%20type%202B%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33861982">Juvenile haemochromatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Griffiths WJH,
Besser M,
Bowden DJ,
Kelly DA</span><br />
<span class="medgenPMjournal">Lancet Child Adolesc Health</span>
2021 Jul;5(7):524-530.
Epub 2021 Apr 15
doi: 10.1016/S2352-4642(20)30392-8.
<span class="bold">PMID: </span><a href="/pubmed/33861982" target="_blank">33861982</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33787609">Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu LY,
Song ZY,
Li QH,
Mou LJ,
Yu YY,
Shen SS,
Song XX</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2021 Apr 2;100(13):e25258.
doi: 10.1097/MD.0000000000025258.
<span class="bold">PMID: </span><a href="/pubmed/33787609" target="_blank">33787609</a><a href="/pmc/articles/PMC8021318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32327622">Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Santiago de Sousa Azulay R,
Magalhães M,
Tavares MDG,
Dualibe R,
Barbosa L,
Sá Gaspar S,
Faria AM,
Nascimento GC,
Damianse SDSP,
Rocha VCC,
Gomes MB,
Dos Santos Faria M</span><br />
<span class="medgenPMjournal">Am J Case Rep</span>
2020 Apr 24;21:e923108.
doi: 10.12659/AJCR.923108.
<span class="bold">PMID: </span><a href="/pubmed/32327622" target="_blank">32327622</a><a href="/pmc/articles/PMC7200091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29134618">The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kawabata H</span><br />
<span class="medgenPMjournal">Int J Hematol</span>
2018 Jan;107(1):31-43.
Epub 2017 Nov 13
doi: 10.1007/s12185-017-2365-3.
<span class="bold">PMID: </span><a href="/pubmed/29134618" target="_blank">29134618</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16103117">Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang AS,
West AP Jr,
Wyman AE,
Bjorkman PJ,
Enns CA</span><br />
<span class="medgenPMjournal">J Biol Chem</span>
2005 Oct 7;280(40):33885-94.
Epub 2005 Aug 15
doi: 10.1074/jbc.M506207200.
<span class="bold">PMID: </span><a href="/pubmed/16103117" target="_blank">16103117</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemochromatosis%20type%202B%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 (5)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33787609">Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu LY,
Song ZY,
Li QH,
Mou LJ,
Yu YY,
Shen SS,
Song XX</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2021 Apr 2;100(13):e25258.
doi: 10.1097/MD.0000000000025258.
<span class="bold">PMID: </span><a href="/pubmed/33787609" target="_blank">33787609</a><a href="/pmc/articles/PMC8021318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22098610">Clinical impact of HFE mutations in Japanese patients with chronic hepatitis C.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishizu Y,
Katano Y,
Honda T,
Hayashi K,
Ishigami M,
Itoh A,
Hirooka Y,
Nakano I,
Goto H</span><br />
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
2012 Jun;27(6):1112-6.
doi: 10.1111/j.1440-1746.2011.06976.x.
<span class="bold">PMID: </span><a href="/pubmed/22098610" target="_blank">22098610</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemochromatosis%20type%202B%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 (2)</a></div></div>
</div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1865616%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
<li><a href="/gtr/tests?term=C1865616%5bDISCUI%5d&amp;test_type=Research" target="_blank">Research (1)</a></li>
<li><a href="/gtr/tests?term=C1865616%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
<li><a href="/gtr/tests?term=C1865616%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
<li><a href="/gtr/tests?term=C1865616%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1865616%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
</ul></div>
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<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=613313" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hemochromatosis%20type%202B" target="_blank">ClinicalTrials.gov</a></li></ul></div>
</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hemochromatosis%20type%202b)%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(%22Hemochromatosis%20type%202B%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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<div class="portlet mgSection" id="ID_115">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=606464" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=57817[geneid]" target="_blank">View HAMP variations in ClinVar</a></li><li><a href="/nuccore/224922763" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613313" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hemochromatosis+type+2B/8501" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hemochromatosis_type_2b" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Hemochromatosis%20type%202B" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15647/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/20301349" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
</li>
<li>
<a href="/pubmed/clinical?term=Hemochromatosis%20type%202B" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Hemochromatosis%20type%202B%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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