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Blood, 2 July 2009, Vol. 114, No. 1, pp. 20-25. Prepublished online as a Blood First Edition Paper on April 2, 2009; DOI 10.1182/blood-2009-01-199109. This Article Full Text Full Text (PDF) Supplemental Tables and Figure All Versions of this Article: blood-2009-01-199109v1 114/1/20    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Google Scholar Articles by Lok, C. Y. Articles by Robson, K. J.H. PubMed PubMed Citation Articles by Lok, C. Y. Articles by Robson, K. J.H. Related Collections Free Research Articles Red Cells, Iron, and Erythropoiesis Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Iron overload in the Asian community Chun Yu Lok1, Alison T. Merryweather-Clarke1,2, Vip Viprakasit1,3, Yingyong Chinthammitr4, Somdet Srichairatanakool5, Chanin Limwongse3, David Oleesky6, Anthony J. Robins6, John Hudson7, Phyu Wai8, Anuja Premawardhena9, H. Janaka de Silva9, Anuradha Dassanayake10, Carole McKeown11, Maurice Jackson12, Rousseau Gama13,14, Nasaim Khan15, William Newman15, Gurvinder Banait16, Andrew Chilton17, Isaac Wilson-Morkeh17, David J. Weatherall1, and Kathryn J.H. Robson1 1 Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, and 2 Blood Research Laboratory, National Blood Service, John Radcliffe Hospital, Headington, Oxford, United Kingdom; Departments of 3 Paediatrics and 4 Internal Medicine, Siriraj-Thalassemia Research Program and World Health Organization Collaborating Center for the Control of Haemoglobinopathies, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 5 Department of Biochemistry, Faculty of Medicine, Chang Mai University, Chang Mai, Thailand; Departments of 6 Biochemistry, 7 Haematology, and 8 Endocrinology, Macclesfield Hospital, Macclesfield, United Kingdom; Departments of 9 Medicine and 10 Pharmacology, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka; 11 Clinical Genetics, Birmingham Women's Hospital, Birmingham, United Kingdom; 12 Renal Unit and 13 Clinical Chemistry, New Cross Hospital, Wolverhampton, United Kingdom; 14 Research Institute, Healthcare Sciences, Wolverhampton University, Wolverhampton, United Kingdom; 15 Regional Genetic Service and Medical Genetic Research Group, St Mary's Hospital, Central Manchester and Manchester Children's Hospital National Health Service (NHS) Trust, Manchester, United Kingdom; 16 Royal Blackburn Hospital, Blackburn, United Kingdom; and 17 Kettering General Hospital NHS Foundation Trust, Kettering, United Kingdom 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, we provide 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Iron overload in Asia Chaim Hershko Blood 2009 114: 1-2. [Abstract] [Full Text] [PDF] This article has been cited by other articles: A. Fernandes, G. C. Preza, Y. Phung, I. De Domenico, J. Kaplan, T. Ganz, and E. Nemeth The molecular basis of hepcidin-resistant hereditary hemochromatosis Blood, July 9, 2009; 114(2): 437 - 443. [Abstract] [Full Text] [PDF] C. Hershko Iron overload in Asia Blood, July 2, 2009; 114(1): 1 - 2. [Abstract] [Full Text] [PDF]

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