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Title: Iron overload in the Asian community
Authors: Yu Lok Chun
Alison T. Merryweather-Clarke
Vip Viprakasit
Yingyong Chinthammitr
Somdet Srichairatanakool
Chanin Limwongse
David Oleesky
Anthony J. Robins
John Hudson
Phyu Wai
Anuja Premawardhena
H. Janaka De Silva
Anuradha Dassanayake
Carole McKeown
Maurice Jackson
Rousseau Gama
Nasaim Khan
William Newman
Gurvinder Banait
Andrew Chilton
Isaac Wilson-Morkeh
David J. Weatherall
Kathryn J.H. Robson
John Radcliffe Hospital
Mahidol University
Faculty of Medicine, Thammasat University
Macclesfield Hospital
University of Kelaniya
Birmingham Women's Hospital
New Cross Hospital
University of Wolverhampton
National Health Service
Royal Blackburn Hospital
Kettering General Hospital
Keywords: Biochemistry, Genetics and Molecular Biology;Immunology and Microbiology;Medicine
Issue Date: 18-Nov-2009
Citation: Blood. Vol.114, No.1 (2009), 20-25
Abstract: Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different genes. Type 1 hemochromatosis is the most common form of the disease and results from mutations in the HFE gene. Juvenile hemochromatosis (JH) is the most severe form, usually caused by mutations in hemojuvelin (HJV) or hepcidin (HAMP). The autosomal dominant form of the disease, type 4, is due to mutations in the SLC40A1 gene, which encodes for ferroportin (FPN). Hereditary hemochromatosis is commonly found in populations of European origin. By contrast, hemochromatosis in Asia is rare and less well understood and can be masked by the presence of iron deficiency and secondary iron overload from thalassemia. Here, weprovide a comprehensive report of hemochromatosis in a group of patients of Asian origin. We have identified novel mutations in HJV, HAMP, and SLC40A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri Lanka, and Thailand). Our family studies show a high degree of consanguinity, highlighting the increased risk of iron overload in many countries of the developing world and in countries in which there are large immigrant populations from these regions. © 2009 by The American Society of Hematology.
ISSN: 15280020
Appears in Collections:Scopus 2006-2010

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