Review article: targeted screening for hereditary haemochromatosis in high-risk groups

Aliment Pharmacol Ther. 2004 Jul 1;20(1):1-14. doi: 10.1111/j.1365-2036.2004.02024.x.


Patients with hereditary haemochromatosis are at risk for significant morbidity from iron overload as well as reduced life-expectancy once cirrhosis is established. Although inexpensive, sensitive screening tests and effective therapy are available, there is continued debate regarding the utility of screening for this condition because of recent data suggesting that the homozygous haemochromatosis mutation (C282Y) is associated with low penetrance and mild expressivity when identified in population screening studies. In this review, we examine the published data related to general population screening for haemochromatosis, as well as the evidence for screening selected 'high-risk' populations. We also suggest possible screening strategies based on the available evidence.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Arthritis / prevention & control
  • Diabetes Mellitus / prevention & control
  • Genetic Testing / methods*
  • Heart Diseases / prevention & control
  • Hemochromatosis / genetics*
  • Hemochromatosis / prevention & control
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Liver Diseases / prevention & control
  • Membrane Proteins / genetics
  • Mutation / genetics
  • Pedigree
  • Risk Factors


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