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

J Gastroenterol Hepatol. 2013 Jul;28(7):1087-94. doi: 10.1111/jgh.12222.


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.

Publication types

  • Review

MeSH terms

  • Asia / epidemiology
  • Female
  • Hemochromatosis / diagnosis
  • Hemochromatosis / epidemiology*
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Kupffer Cells
  • Male
  • Membrane Proteins / genetics*
  • Molecular Diagnostic Techniques
  • Mutation*
  • Pacific Islands / epidemiology


  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins