Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia

Hepatol Int. 2015 Apr;9(2):174-82. doi: 10.1007/s12072-015-9608-2. Epub 2015 Mar 12.


This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though the most common form of hereditary hemochromatosis, C282Y gene mutations in the HFE gene, has been extensively studied, novel mutations in both HFE and non-HFE genes have been implicated in this disease. These have important implications for the Asia-Pacific region. In overload, deposition of iron in various body tissues leads to toxic damage. Patients commonly present with non-specific symptoms of malaise and lethargy. Biochemical, imaging and genetic testing can be carried out to confirm diagnosis. Venesection forms the mainstay of treatment and at present cascade screening of affected families is recommended over population-level screening.

Publication types

  • Review

MeSH terms

  • Australia
  • Cation Transport Proteins / genetics
  • Congresses as Topic
  • Genetic Testing
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics*
  • Hemochromatosis / metabolism
  • Hemochromatosis / therapy
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron / metabolism*
  • Membrane Proteins / genetics*
  • Phlebotomy
  • Receptors, Transferrin / genetics


  • Cation Transport Proteins
  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Transferrin
  • TFR2 protein, human
  • metal transporting protein 1
  • Iron