ArticleHepatology (Baltimore, Md.)2010
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.
Article in Hepatology (Baltimore, Md.), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Trial
- Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns.NPJ genomic medicine · 2026Article
- Liver Iron Content in Individuals With B-Thalassemia Trait and Hyperferritinemia: Role of Metabolic Alterations,Mediterranean journal of hematology and infectious diseases · 2026Article
- Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosisBMJ (Clinical research ed.) · 2024Article
- Revisiting hemochromatosis: geneticAnnals of translational medicine · 2021Review
- Article
- Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors.Annals of hematology · 2020Article
- Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020Review
- HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System.Pharmaceuticals (Basel, Switzerland) · 2019Article
- Iron-Induced Liver Injury: A Critical Reappraisal.International journal of molecular sciences · 2019Review
- Haemochromatosis.Nature reviews. Disease primers · 2018Review
- Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Hemochromatosis: a model of metal-related human toxicosis.Environmental science and pollution research international · 2018Article
- Pathophysiological consequences and benefits ofHaematologica · 2017Review
- HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.Journal of gastroenterology and hepatology · 2017Article
- Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis.PloS one · 2015Article
- HFE genotyping in patients with elevated serum iron indices and liver diseases.BioMed research international · 2015Article
- HFE-related hemochromatosis: an update for the rheumatologist.Current rheumatology reports · 2014Review
- HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L.Canadian journal of gastroenterology = Journal canadien de gastroenterologie · 2013Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 2 countries.
Funding
Abstract
unlabelledHemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is a genetic predisposition to iron overload and subsequent signs and symptoms of disease that potentially affects approximately 80,000 persons in Australia and almost 1 million persons in the United States. Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis. The optimal treatment regimen for those with SF concentrations above the normal range but <1000 microg/L is unknown. We assessed HFE mutations in a prospective cohort of 31,192 participants of northern European descent, aged 40-69 years. An HFE-stratified random sample of 1438 participants including all C282Y homozygotes with iron studies 12 years apart were examined by physicians blinded to participants' HFE genotype. All previously undiagnosed C282Y homozygotes (35 male, 67 female) and all HFE wild-types (131 male, 160 female) with baseline and follow-up SF concentrations <1000 microg/L were assessed for HH-associated signs and symptoms including abnormal second/third metacarpophalangeal joints (MCP2/3), raised liver enzymes, hepatomegaly, and self-reported liver disease, fatigue, diabetes mellitus, and use of arthritis medication. The prevalence of HH-associated signs and symptoms was similar for C282Y homozygotes and HFE wild-types for both normal and moderately elevated SF concentrations. The maximum prevalence difference between HFE genotype groups with moderately elevated SF was 11% (MCP2/3, 95% confidence interval = -6%, 29%; P = 0.22) and for normal SF was 6% (arthritis medicine use, 95% confidence interval = -3%, 16%; P = 0.11).
conclusionPreviously undiagnosed C282Y homozygotes with SF concentrations that remain below 1000 microg/L are at low risk of developing HH-associated signs and symptoms at an age when disease would be expected to have developed. These observations have implications for the management of C282Y homozygotes.
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