Hereditary hemochromatosis: time for targeted screening

Ann Intern Med. 2008 Aug 19;149(4):270-2. doi: 10.7326/0003-4819-149-4-200808190-00009.


The discovery of the HFE gene in 1996 heralded a decade of major advances in the understanding of the mechanisms that control iron absorption and body iron stores. A genetic definition of the common form of hereditary hemochromatosis became possible, and testing for the common causative HFE mutations is now widely available in clinical laboratories. Several population screening studies have confirmed that disease penetrance in HFE-related hereditary hemochromatosis is lower than previously believed, making universal population-based screening for this disorder unattractive. However, hereditary hemochromatosis may still cause morbidity and mortality because of iron overload. Early detection and use of appropriate therapy can prevent these manifestations and can only be achieved by targeted case finding. In this article, the authors draw attention again to hereditary hemochromatosis as a cause of preventable organ dysfunction and propose targeted case finding for Caucasian men of Northern European ancestry.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cost-Benefit Analysis
  • Early Diagnosis
  • Genetic Testing* / economics
  • Genotype
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Mutation
  • Phenotype
  • Risk Factors


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