Iron storage disease in Asia-Pacific populations: The importance of non-HFE mutations

Mcdonald, C.J., Wallace, D.F., Crawford, D.H.G., & Subramaniam, V.N. (2013) Iron storage disease in Asia-Pacific populations: The importance of non-HFE mutations. Journal of Gastroenterology and Hepatology, 28(7), pp. 1087-1094.

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Hereditary hemochromatosis (HH) is a widely recognized and well-studied condition in European populations. This is largely due to the high prevalence of the C282Y mutation of HFE. Although less common than in Europe, HH cases have been reported in the Asia-Pacific region because of mutations in both HFE and non-HFE genes. Mutations in all of the currently known genes implicated in non-HFE HH (hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin) have been reported in patients from the Asia-Pacific region. This review discusses the molecular basis of HH and the genes and mutations known to cause non-HFE HH with particular reference to the Asia-Pacific region. Challenges in the genetic diagnosis of non-HFE HH are also discussed and how new technologies such as next generation sequencing may be informative in the future. © 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.

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14 citations in Web of Science®

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ID Code: 99839
Item Type: Journal Article
Refereed: Yes
Keywords: ferroportin disease; hemochromatosis; juvenile iron overload; Kupffer cell
DOI: 10.1111/jgh.12222
ISSN: 1440-1746
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Deposited On: 14 Oct 2016 00:58
Last Modified: 17 Oct 2016 03:59

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