Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
نویسندگان
چکیده
منابع مشابه
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Haemochromatosis (HH) is a clinically and genetically heterogeneous disease caused by inappropriate iron absorption. Most HH patients are homozygous for the C282Y mutation in the HFE gene. However, penetrance of the C282Y mutation is incomplete, and other genetic factors may well affect the HH phenotype. Ferroportin and TFR2 mutations also cause HH, and two HAMP mutations have recently been rep...
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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 res...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2003
ISSN: 1460-2083
DOI: 10.1093/hmg/ddg225