Recent advances in understanding haemochromatosis: A transition state
Date
2004
Authors
Robson K.J.H.
Merryweather-Clarke A.T.
Cadet E.
Viprakasit V.
Zaahl M.G.
Pointon J.J.
Weatherall D.J.
Rochette J.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Mutations in the hepcidin gene HAPM 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.
Description
Keywords
hemojuvelin, hepcidin, iron, peptide hormone, unclassified drug, disease classification, disease severity, gene, gene mutation, genetic disorder, HAMP gene, hemochromatosis, HJV gene, host resistance, human, infection, inheritance, intestine absorption, iron absorption, iron metabolism, juvenile hemochromatosis, mass screening, nonhuman, population genetics, priority journal, review, Genetic Screening, Hemochromatosis, Histocompatibility Antigens Class I, Humans, Infection, Iron Overload, Membrane Proteins
Citation
Journal of Medical Genetics
41
10
41
10