Publication: Recent advances in understanding haemochromatosis: A transition state
Issued Date
2004-10-01
Resource Type
ISSN
00222593
Other identifier(s)
2-s2.0-6344237322
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Medical Genetics. Vol.41, No.10 (2004), 721-730
Suggested Citation
Kathryn J.H. Robson, Alison T. Merryweather-Clarke, E. Cadet, V. Viprakasit, M. G. Zaahl, J. J. Pointon, D. J. Weatherall, J. Rochette Recent advances in understanding haemochromatosis: A transition state. Journal of Medical Genetics. Vol.41, No.10 (2004), 721-730. doi:10.1136/jmg.2004.020644 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/21147
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Title
Recent advances in understanding haemochromatosis: A transition state
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.