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Iron storage disease in A sia‐ P acific populations: The importance of non‐ HFE mutations
Author(s) -
McDonald Cameron J,
Wallace Daniel F,
Crawford Darrell H G,
Subramaniam V Nathan
Publication year - 2013
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/jgh.12222
Subject(s) - hepcidin , ferroportin , mutation , hemochromatosis , hereditary hemochromatosis , transferrin receptor , gene , transferrin , genetics , medicine , biology , anemia
Abstract Hereditary hemochromatosis ( HH ) is a widely recognized and well‐studied condition in E uropean populations. This is largely due to the high prevalence of the C 282 Y mutation of HFE . Although less common than in E urope, HH cases have been reported in the A sia‐ P acific 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 A sia‐ P acific 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 A sia‐ P acific 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.