Revisiting hereditary hemochromatosis: current concepts and progress

Am J Med. 2006 May;119(5):391-9. doi: 10.1016/j.amjmed.2005.10.041.


Originally regarded as a rare affliction notable for its distinctive evolution to "bronze diabetes," hereditary hemochromatosis is now recognized as the most common genetic disorder in populations of European ancestry. Recent advances in our understanding of iron metabolism, the identification of the gene responsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic approach toward patients with hereditary hemochromatosis and other forms of iron overload. This article reviews the pathophysiology, epidemiology, clinical features, diagnostic testing, and management of hemochromatosis for the primary care provider.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Epidemiologic Studies
  • Hemochromatosis / diagnosis
  • Hemochromatosis / epidemiology*
  • Hemochromatosis / genetics*
  • Hemochromatosis / pathology
  • Hemochromatosis / physiopathology*
  • Hemochromatosis / therapy
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Incidence
  • Iron Overload / complications
  • Iron Overload / physiopathology
  • Mass Screening
  • Membrane Proteins / genetics*
  • Prognosis


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