Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

Lancet. 2005 Jul 23-29;366(9482):314-6. doi: 10.1016/S0140-6736(05)63012-7.

Abstract

HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assessed whether such screening was suitable for communities. Cheek-brush screening for the Cys282Tyr HFE mutation was offered to individuals in the workplace. Outcomes were assessed by questionnaires before and after testing. 11,307 individuals were screened. We recorded no increase in anxiety in individuals who were homozygous for the Cys282Tyr mutation or non-homozygous. Self-reported tiredness before testing was significantly higher in homozygous participants than in non-homozygous participants (chi2 test, p=0.029). Of the 47 homozygous individuals identified, 46 have taken steps to treat or prevent iron accumulation. Population genetic screening for HFE-associated hereditary haemochromatosis can be practicable and acceptable.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Attitude to Health
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing* / psychology
  • Hemochromatosis / complications
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / metabolism
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / analysis*
  • Homozygote
  • Humans
  • Liver Diseases / complications
  • Male
  • Mass Screening*
  • Membrane Proteins / analysis*
  • Middle Aged
  • Mutation

Substances

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