Screening for hemochromatosis

Clin Chim Acta. 2002 Jan;315(1-2):169-86. doi: 10.1016/s0009-8981(01)00711-2.


Background: Hereditary hemochromatosis is the most common autosomal recessive disorder in populations of northern European descent.

Issues: Many experts consider hemochromatosis to be an almost ideal disease for population screening because it essentially fulfills almost all the criteria for screening proposed by the WHO. However, others disagree and suggest that more data are required particularly with regard to the natural history and penetrance of the disease. There is also disagreement about the best diagnostic/screening test for the disease and the performance of these tests in the context of screening. Other concerns are the variability and lack of standardization in screening test measurements, the selection of screening threshold values and the identification of false positive cases. The advent of a genetic test for the condition has brought other worries with regard to informed consent and the ethical, legal and social implications of screening particularly in relation to medical and general discrimination. Other important issues include compliance, cost effectiveness and the evidence that screening has lessened the burden of disease in the community.

Conclusions: At the present time, we believe that further data regarding both the exact disease burden and the outcomes of screening studies particularly in the general community are required before widespread population screening is introduced.

Publication types

  • Review

MeSH terms

  • Adult
  • Algorithms
  • Biopsy
  • Cost-Benefit Analysis
  • Female
  • Ferritins / blood
  • Forecasting
  • Genetic Testing
  • Genotype
  • HLA Antigens / genetics
  • Hemochromatosis / complications
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Informed Consent
  • Intestinal Absorption
  • Iron / blood
  • Iron / metabolism
  • Iron Deficiencies
  • Liver Cirrhosis / etiology
  • Male
  • Mass Screening*
  • Membrane Proteins*
  • Transferrin / analysis


  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Transferrin
  • Ferritins
  • Iron