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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 HAMP. Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host's response to infection.

Original publication

DOI

10.1136/jmg.2004.020644

Type

Journal article

Journal

J Med Genet

Publication Date

10/2004

Volume

41

Pages

721 - 730

Keywords

Genetic Testing, Hemochromatosis, Hemochromatosis Protein, Histocompatibility Antigens Class I, Humans, Infection, Iron Overload, Membrane Proteins