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Title: Recent advances in understanding haemochromatosis: A transition state
Authors: Kathryn J.H. Robson
Alison T. Merryweather-Clarke
E. Cadet
V. Viprakasit
M. G. Zaahl
J. J. Pointon
D. J. Weatherall
J. Rochette
Weatherall Institute of Molecular Medicine
Universite de Picardie Jules Verne, Faculte de Medecine
Mahidol University
Universiteit Stellenbosch
University of Oxford
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Oct-2004
Citation: Journal of Medical Genetics. Vol.41, No.10 (2004), 721-730
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.
ISSN: 00222593
Appears in Collections:Scopus 2001-2005

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