Recent advances in understanding haemochromatosis: a transition state.
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Journal: 2005/August - Journal of Medical Genetics
ISSN: 1468-6244
Abstract:
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.
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J Med Genet 41(10): 721-730
PMID: 15466004

Recent advances in understanding haemochromatosis: a transition state

Abstract

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.

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MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK. kathryn.robson@imm.ox.ac.uk ;e3000x#&ku.ca.xo.mmi@nosbor.nyrhtak;c3000x#&
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK. kathryn.robson@imm.ox.ac.uk ;e3000x#&ku.ca.xo.mmi@nosbor.nyrhtak;c3000x#&
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Abstract

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.

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