Essentially a clinical diagnosis, classically the term hemochromatosis has denoted iron storage disease of varying etiology accompanied by tissue damage. Common pathologic manifestations are cirrhosis of the liver, diabetes, darkening of the skin and cardiac arrhythmias and failure. The cause can be hereditary, as in the HLA‚Äźlinked form most common in Europeans, or acquired, as the result of transfusions and/or disordered erythropoiesis as in thalassemia. With the positional cloning of the HFE gene, the term hemochromatosis has been increasingly taken to represent an HFE genotype, with or without pathologic changes.

Keywords: HFE; screening; iron; penetrance; storage

Further Reading

Asberg A, Hveem K, Thorstensen K, et al. (2001) Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65238 persons. Scandinavian Journal of Gastroenterology 36: 1108–1115.

Beutler E, Bothwell TH, Charlton RW and Motulsky AG (2001) Hereditary hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) The Metabolic and Molecular Basis of Inherited Disease, pp. 3127–3161. New York, NY: McGraw‐Hill

Beutler E, Felitti VJ, Koziol JA, Ho NJ and Gelbart T (2002) Penetrance of the 845G→A (C282Y) HFE hereditary hemochromatosis mutation. Lancet 359: 211–218.

EASL International Consensus Conference on Haemochromatosis (2000) Co‐sponsored by the World Health Organization. Journal of Hepatology 33: 485–504.

Fairbanks VF, Fahey JL and Beutler E (1971) Clinical Disorders of Iron Metabolism, 2nd edn New York, NY: Grune & Stratton, Inc.

Feder JN, Gnirke A, Thomas W, et al. (1996) A novel MHC class I‐like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics 13: 399–408.

Ryan E, O'Keane C and Crowe J (1998) Hemochromatosis in Ireland and HFE. Blood Cells and Molecular Disorders 24: 428–432.

Simon M, Pawlotsky Y, Bourel M, Fauchet R and Genetet B (1975) Hémochromatose idiopathique: maladie associée à l'antigène tissulaire. Nouvelle Presse Medecin 4: 1432.

Web Links

Hemochromatosis gene (HFE); MIM number: 235200. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?235200

Hemochromatosis gene (HFE); LocusID: 3077. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3077

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How to Cite close
Beutler, Ernest(Jan 2006) Hemochromatosis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005530]