Epidemiology and diagnostic testing for hemochromatosis and iron overload

Int J Lab Hematol. 2015 May;37 Suppl 1:25-30. doi: 10.1111/ijlh.12347.


Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase in most patients, which can lead to cirrhosis of the liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as the serum ferritin and transferrin saturation are useful to suggest the diagnosis which can be confirmed in most cases with a simple genetic test for the C282Y mutation of the HFE gene. However, these blood tests are often misinterpreted and there are rare patients with iron overload without HFE mutations. A diagnostic approach is presented based on a large referral practice and a population-based study (HEIRS) which screened for iron overload in 101,168 participants.

Keywords: Hemochromatosis; ferritin; genetic testing; iron overload.

Publication types

  • Review

MeSH terms

  • Ferritins / blood
  • Genetic Testing / methods*
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / epidemiology
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Iron Overload / diagnosis*
  • Iron Overload / epidemiology
  • Iron Overload / genetics
  • Mass Screening / methods*
  • Membrane Proteins / genetics
  • Mutation
  • Sensitivity and Specificity
  • Transferrin / metabolism


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