Title |
Iron storage disease in the Asia‐Pacific
|
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Published in |
Journal of Gastroenterology & Hepatology, June 2013
|
DOI | 10.1111/jgh.12222 |
Pubmed ID | |
Authors |
Cameron J McDonald, Daniel F Wallace, Darrell H G Crawford, V Nathan Subramaniam |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 26 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 23% |
Student > Bachelor | 4 | 15% |
Lecturer | 3 | 12% |
Professor | 2 | 8% |
Other | 2 | 8% |
Other | 7 | 27% |
Unknown | 2 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 38% |
Agricultural and Biological Sciences | 4 | 15% |
Biochemistry, Genetics and Molecular Biology | 3 | 12% |
Immunology and Microbiology | 1 | 4% |
Nursing and Health Professions | 1 | 4% |
Other | 2 | 8% |
Unknown | 5 | 19% |