Recent advances in understanding haemochromatosis: a transition state.
Ontology highlight
ABSTRACT:
SUBMITTER: Robson KJ
PROVIDER: S-EPMC1735598 | biostudies-literature | 2004 Oct
REPOSITORIES: biostudies-literature
Publications
Recent advances in understanding haemochromatosis: a transition state.
Robson K J H KJ Merryweather-Clarke A T AT Cadet E E Viprakasit V V Zaahl M G MG Pointon J J JJ Weatherall D J DJ Rochette J J
Journal of medical genetics 20041001 10
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 HAM ...[more]
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