Recent advances in understanding haemochromatosis: a transition state.

Journal article

Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in the HFE and HJV genes. Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in ...

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Authors: Robson, K; Merryweather-Clarke, A; Cadet, E; Viprakasit, V; Zaahl, MG

• Publication status: Published
• Journal: Journal of medical genetics
• Volume: 41
• Issue: 10
• Pages: 721-730
• Publication date: 2004-10-01
• DOI: 10.1136/jmg.2004.020644
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Membrane Proteins; Iron Overload; Histocompatibility Antigens Class I; Infection; Humans; Hemochromatosis; Genetic Testing