ArticleThe Journal of clinical investigation2001
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
Article in The Journal of clinical investigation, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 3 of them syntheses that pooled it.
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Who cites it
143 citing papers in PubMed, 3 syntheses or guidelines pooled it, 496 citations in OpenAlex.
- Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.Communications biology · 2022Pooled it
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Journal of hepatology · 2010Pooled it
- Ferroportin at the Crossroads of Iron Biology: Disease, Regulation and Modulation.Biomolecules · 2026Review
- How does iron cross the abluminal membrane of the blood-brain barrier.Experimental & molecular medicine · 2026Review
- Research progress of traditional Chinese medicines in regulating acute kidney injury-related ferroptosis: a literature review.International urology and nephrology · 2025Review
- Hepatic immune regulation and sex disparities.Nature reviews. Gastroenterology & hepatology · 2024Review
- Hemochromatosis-How Not to Overlook and Properly Manage "Iron People"-A Review.Journal of clinical medicine · 2024Review
- A Revised Classification of Primary Iron Overload Syndromes.Journal of clinical and translational hepatology · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatment.Cardiovascular research · 2024Article
- Ferroptosis inhibition by oleic acid mitigates iron-overload-induced injury.Cell chemical biology · 2024Article
- Genetic Incorporation of Dansylalanine in Human Ferroportin to Probe the Alternating Access Mechanism of Iron Transport.International journal of molecular sciences · 2023Article
- Low ceruloplasmin levels exacerbate retinal degeneration in a hereditary hemochromatosis model.Disease models & mechanisms · 2023Article
- Effect of Eculizumab on Iron Metabolism in Transfusion-independent Patients With Paroxysmal Nocturnal Hemoglobinuria.HemaSphere · 2023Article
- Analysis of Hand Joint Space Morphology in Women and Men with Hereditary Hemochromatosis.Calcified tissue international · 2023Article
- Ironing out macrophages in atherosclerosis.Acta biochimica et biophysica Sinica · 2023Review
- The Spectra of Disease-Causing Mutations in the Ferroportin 1 (Human mutation · 2023Review
- Ferroptosis assassinates tumor.Journal of nanobiotechnology · 2022Article
- Article
83 more citing papers are in PubMed but not listed here.
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10 authors at 2 institutions in 1 country.
Funding
Abstract
Hemochromatosis is a progressive iron overload disorder that is prevalent among individuals of European descent. It is usually inherited in an autosomal-recessive pattern and associated with missense mutations in HFE, an atypical major histocompatibility class I gene. Recently, we described a large family with autosomal-dominant hemochromatosis not linked to HFE and distinguished by early iron accumulation in reticuloendothelial cells. Through analysis of a large pedigree, we have determined that this disease maps to 2q32. The gene encoding ferroportin (SLC11A3), a transmembrane iron export protein, lies within a candidate interval defined by highly significant lod scores. We show that the iron-loading phenotype in autosomal-dominant hemochromatosis is associated with a nonconservative missense mutation in the ferroportin gene. This missense mutation, converting alanine to aspartic acid at residue 77 (A77D), was not seen in samples from 100 unaffected control individuals. We propose that partial loss of ferroportin function leads to an imbalance in iron distribution and a consequent increase in tissue iron accumulation.
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