A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

Hum Mutat. 1999;13(2):154-9. doi: 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E.


We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis. We have found C282Y allele frequencies of 2.3% (+2.0%) (-1.3%) in Greenland, 4.5%+/-1.9% in Iceland, 5.1%+/-2.3% in the Faeroe Islands, and 8.2%+/-2.7% in Denmark. The high prevalence of HFE mutations in Denmark suggests that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care. Long-term follow-up evaluation of C282Y homozygotes and H63D/C282Y compound heterozygotes will give an indication of the penetrance of the mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Genes, MHC Class I / genetics
  • Genetic Testing*
  • HLA Antigens / genetics*
  • Hemochromatosis / epidemiology
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Infant, Newborn
  • Membrane Proteins*
  • Mutation / genetics*
  • Neonatal Screening*
  • Pilot Projects
  • Retrospective Studies
  • Scandinavian and Nordic Countries / epidemiology


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