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<meta name="keywords" content="C4022892, elevated transferrin saturation, finding, 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="An above normal level of saturation of serum transferrin with iron." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=868498
|
||
ConceptID=C4022892
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Elevated transferrin saturation</div></h1><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) Click for more information.">C4022892</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012463">HP:0012463</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An above normal level of saturation of serum transferrin with iron. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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 unavailable round" title="Clinical test">C</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">Elevated transferrin saturation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1701080" ref="tree=MeSH" title="MedGen record for Abnormal circulating metabolite concentration">Abnormal circulating metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/312393" ref="tree=MeSH" title="MedGen record for Abnormal blood ion concentration">Abnormal blood ion concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869223" ref="tree=MeSH" title="MedGen record for Abnormal blood cation concentration">Abnormal blood cation concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869164" ref="tree=MeSH" title="MedGen record for Abnormal blood transition element cation concentration">Abnormal blood transition element cation concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869163" ref="tree=MeSH" title="MedGen record for Abnormality of iron homeostasis">Abnormality of iron homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868028" ref="tree=MeSH" title="MedGen record for Abnormal transferrin saturation">Abnormal transferrin saturation</a></span><ul><li><span class="matched_ds">Elevated transferrin saturation</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_341982"><div><strong>Hemochromatosis type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341982</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.">C1851316</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341982">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340044"><div><strong>Hemochromatosis type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340044</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.">C1853733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340044">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388114"><div><strong>Hemochromatosis type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388114</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."><span class="highlight" style="background-color:">C1858664</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TFR2-related hemochromatosis (TFR2-HC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. Age of onset is earlier than in HFE-related hemochromatosis. The majority of individuals present with signs and symptoms of iron overload in the third decade (e.g., weakness, fatigue, abdominal pain, hepatomegaly, arthritis, arthralgia, and progressive increase in skin pigmentation). Others present as young adults with nonspecific symptoms and abnormal serum iron studies or as adults with abnormal serum iron studies and signs of organ involvement including cirrhosis, diabetes mellitus, arthropathy, hypogonadism, cardiomyopathy, and increase in skin pigmentation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356040"><div><strong>Hemochromatosis type 2B</strong><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) Click for more information.">C1865616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815250"><div><strong>Severe congenital hypochromic anemia with ringed sideroblasts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815250</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.">C3808920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815250">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899109"><div><strong>Sideroblastic anemia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899109</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.">C4225425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899109">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1658844"><div><strong>Ferro-cerebro-cutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1658844</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.">C4751570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1658844">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1814970"><div><strong>Iron overload, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814970</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.">C5703292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Iron overload (IO) is characterized by the onset of increased systemic iron levels apparent in mid-adulthood. Laboratory studies show increased serum ferritin, normal or high transferrin saturation, increased liver iron content, and inappropriately low or normal levels of hepcidin. Presence of a BMP6 mutation confers susceptibility to the disorder, but additional factors, including alcohol consumption, increased body weight, and possibly HFE gene (613609) variants, may contribute to the severity of the manifestations (Daher et al., 2016; Piubelli et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814970">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1658844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ferro-cerebro-cutaneous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1814970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iron overload, susceptibility to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe congenital hypochromic anemia with ringed sideroblasts</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sideroblastic anemia 2</a></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/35662478">EASL Clinical Practice Guidelines on haemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2022 Aug;77(2):479-502.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1016/j.jhep.2022.03.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662478" target="_blank">35662478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20337854">Haemochromatosis genotype and iron overload: association with hypertension and left ventricular hypertrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellervik C,
|
||
Tybjaerg-Hansen A,
|
||
Appleyard M,
|
||
Ibsen H,
|
||
Nordestgaard BG</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2010 Sep;268(3):252-64.
|
||
Epub 2010 Jan 29
|
||
doi: 10.1111/j.1365-2796.2010.02217.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20337854" target="_blank">20337854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8867884">Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witte DL,
|
||
Crosby WH,
|
||
Edwards CQ,
|
||
Fairbanks VF,
|
||
Mitros FA</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
1996 Feb 28;245(2):139-200.
|
||
doi: 10.1016/0009-8981(95)06212-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8867884" target="_blank">8867884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22elevated%20transferrin%20saturation%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 (10)</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/35229939">Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroll DS,
|
||
McPherson KL,
|
||
Manza P,
|
||
Schwandt ML,
|
||
Shen PH,
|
||
Goldman D,
|
||
Diazgranados N,
|
||
Wang GJ,
|
||
Wiers CE,
|
||
Volkow ND</span><br />
|
||
<span class="medgenPMjournal">Addict Biol</span>
|
||
2022 Mar;27(2):e13144.
|
||
doi: 10.1111/adb.13144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35229939" target="_blank">35229939</a><a href="/pmc/articles/PMC9373047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24337410">Elevated transferrin saturation, health-related quality of life and telomere length.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mainous AG 3rd,
|
||
Wright RU,
|
||
Hulihan MM,
|
||
Twal WO,
|
||
McLaren CE,
|
||
Diaz VA,
|
||
McLaren GD,
|
||
Argraves WS,
|
||
Grant AM</span><br />
|
||
<span class="medgenPMjournal">Biometals</span>
|
||
2014 Feb;27(1):135-41.
|
||
Epub 2013 Dec 15
|
||
doi: 10.1007/s10534-013-9693-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24337410" target="_blank">24337410</a><a href="/pmc/articles/PMC4034347" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23418762">Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crownover BK,
|
||
Covey CJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2013 Feb 1;87(3):183-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23418762" target="_blank">23418762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19034258">Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fix OK,
|
||
Kowdley KV</span><br />
|
||
<span class="medgenPMjournal">Minerva Med</span>
|
||
2008 Dec;99(6):605-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19034258" target="_blank">19034258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12382198">Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ajioka RS,
|
||
Kushner JP</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2002 Oct;39(4):235-41.
|
||
doi: 10.1053/shem.2002.35634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12382198" target="_blank">12382198</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20transferrin%20saturation%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 (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662478">EASL Clinical Practice Guidelines on haemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2022 Aug;77(2):479-502.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1016/j.jhep.2022.03.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662478" target="_blank">35662478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23418762">Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crownover BK,
|
||
Covey CJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2013 Feb 1;87(3):183-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23418762" target="_blank">23418762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21354228">A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams PC,
|
||
Barton JC</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2011 Aug;55(2):453-8.
|
||
Epub 2011 Feb 24
|
||
doi: 10.1016/j.jhep.2011.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21354228" target="_blank">21354228</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19034258">Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fix OK,
|
||
Kowdley KV</span><br />
|
||
<span class="medgenPMjournal">Minerva Med</span>
|
||
2008 Dec;99(6):605-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19034258" target="_blank">19034258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3541387">Plasma ferritin determination as a diagnostic tool.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finch CA,
|
||
Bellotti V,
|
||
Stray S,
|
||
Lipschitz DA,
|
||
Cook JD,
|
||
Pippard MJ,
|
||
Huebers HA</span><br />
|
||
<span class="medgenPMjournal">West J Med</span>
|
||
1986 Nov;145(5):657-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3541387" target="_blank">3541387</a><a href="/pmc/articles/PMC1307110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20transferrin%20saturation%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 (39)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24503941">Cardiac involvement in hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gulati V,
|
||
Harikrishnan P,
|
||
Palaniswamy C,
|
||
Aronow WS,
|
||
Jain D,
|
||
Frishman WH</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2014 Mar-Apr;22(2):56-68.
|
||
doi: 10.1097/CRD.0b013e3182a67805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24503941" target="_blank">24503941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24327370">Association of iron indices and type 2 diabetes: a meta-analysis of observational studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orban E,
|
||
Schwab S,
|
||
Thorand B,
|
||
Huth C</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Res Rev</span>
|
||
2014 Jul;30(5):372-94.
|
||
doi: 10.1002/dmrr.2506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24327370" target="_blank">24327370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20337854">Haemochromatosis genotype and iron overload: association with hypertension and left ventricular hypertrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellervik C,
|
||
Tybjaerg-Hansen A,
|
||
Appleyard M,
|
||
Ibsen H,
|
||
Nordestgaard BG</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2010 Sep;268(3):252-64.
|
||
Epub 2010 Jan 29
|
||
doi: 10.1111/j.1365-2796.2010.02217.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20337854" target="_blank">20337854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15792921">Clinical characteristics of erythropoietin-associated pure red cell aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carson KR,
|
||
Evens AM,
|
||
Bennett CL,
|
||
Luminari S</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
|
||
2005;18(3):467-72.
|
||
doi: 10.1016/j.beha.2005.01.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15792921" target="_blank">15792921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15083854">The mortality risk of elevated serum transferrin saturation and consumption of dietary iron.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mainous AG 3rd,
|
||
Wells B,
|
||
Carek PJ,
|
||
Gill JM,
|
||
Geesey ME</span><br />
|
||
<span class="medgenPMjournal">Ann Fam Med</span>
|
||
2004 Mar-Apr;2(2):139-44.
|
||
doi: 10.1370/afm.82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15083854" target="_blank">15083854</a><a href="/pmc/articles/PMC1466638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20transferrin%20saturation%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35229939">Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroll DS,
|
||
McPherson KL,
|
||
Manza P,
|
||
Schwandt ML,
|
||
Shen PH,
|
||
Goldman D,
|
||
Diazgranados N,
|
||
Wang GJ,
|
||
Wiers CE,
|
||
Volkow ND</span><br />
|
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<span class="medgenPMjournal">Addict Biol</span>
|
||
2022 Mar;27(2):e13144.
|
||
doi: 10.1111/adb.13144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35229939" target="_blank">35229939</a><a href="/pmc/articles/PMC9373047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27834478">Iron overload and non-alcoholic fatty liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datz C,
|
||
Müller E,
|
||
Aigner E</span><br />
|
||
<span class="medgenPMjournal">Minerva Endocrinol</span>
|
||
2017 Jun;42(2):173-183.
|
||
Epub 2016 Nov 11
|
||
doi: 10.23736/S0391-1977.16.02565-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27834478" target="_blank">27834478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24503941">Cardiac involvement in hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gulati V,
|
||
Harikrishnan P,
|
||
Palaniswamy C,
|
||
Aronow WS,
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Jain D,
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Frishman WH</span><br />
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<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2014 Mar-Apr;22(2):56-68.
|
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doi: 10.1097/CRD.0b013e3182a67805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24503941" target="_blank">24503941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23418762">Hereditary hemochromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crownover BK,
|
||
Covey CJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2013 Feb 1;87(3):183-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23418762" target="_blank">23418762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21354228">A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams PC,
|
||
Barton JC</span><br />
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||
<span class="medgenPMjournal">J Hepatol</span>
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||
2011 Aug;55(2):453-8.
|
||
Epub 2011 Feb 24
|
||
doi: 10.1016/j.jhep.2011.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21354228" target="_blank">21354228</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20transferrin%20saturation%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35229939">Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroll DS,
|
||
McPherson KL,
|
||
Manza P,
|
||
Schwandt ML,
|
||
Shen PH,
|
||
Goldman D,
|
||
Diazgranados N,
|
||
Wang GJ,
|
||
Wiers CE,
|
||
Volkow ND</span><br />
|
||
<span class="medgenPMjournal">Addict Biol</span>
|
||
2022 Mar;27(2):e13144.
|
||
doi: 10.1111/adb.13144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35229939" target="_blank">35229939</a><a href="/pmc/articles/PMC9373047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25215659">Obesity as an emerging risk factor for iron deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aigner E,
|
||
Feldman A,
|
||
Datz C</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2014 Sep 11;6(9):3587-600.
|
||
doi: 10.3390/nu6093587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25215659" target="_blank">25215659</a><a href="/pmc/articles/PMC4179177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24327370">Association of iron indices and type 2 diabetes: a meta-analysis of observational studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orban E,
|
||
Schwab S,
|
||
Thorand B,
|
||
Huth C</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Res Rev</span>
|
||
2014 Jul;30(5):372-94.
|
||
doi: 10.1002/dmrr.2506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24327370" target="_blank">24327370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23801727">Total mortality by elevated transferrin saturation in patients with diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellervik C,
|
||
Andersen HU,
|
||
Tybjærg-Hansen A,
|
||
Frandsen M,
|
||
Birgens H,
|
||
Nordestgaard BG,
|
||
Mandrup-Poulsen T</span><br />
|
||
<span class="medgenPMjournal">Diabetes Care</span>
|
||
2013 Sep;36(9):2646-54.
|
||
Epub 2013 Jun 25
|
||
doi: 10.2337/dc12-2032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23801727" target="_blank">23801727</a><a href="/pmc/articles/PMC3747880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23289518">Iron homeostasis in the metabolic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datz C,
|
||
Felder TK,
|
||
Niederseer D,
|
||
Aigner E</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
2013 Feb;43(2):215-24.
|
||
Epub 2013 Jan 7
|
||
doi: 10.1111/eci.12032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23289518" target="_blank">23289518</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20transferrin%20saturation%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 (24)</a></div></div>
|
||
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|
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|
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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/20691492">Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayr R,
|
||
Janecke AR,
|
||
Schranz M,
|
||
Griffiths WJ,
|
||
Vogel W,
|
||
Pietrangelo A,
|
||
Zoller H</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2010 Nov;53(5):941-9.
|
||
Epub 2010 Jul 17
|
||
doi: 10.1016/j.jhep.2010.05.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20691492" target="_blank">20691492</a><a href="/pmc/articles/PMC2956830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20transferrin%20saturation%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 (1)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d57c5067c23b31e05cb958">Elevated transferrin saturation</a>
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<div class="ralinkpop offscreen_noflow">Elevated transferrin saturation<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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