[Screening for hereditary HFE hemochromatosis]

Presse Med. 2007 Sep;36(9 Pt 2):1292-4. doi: 10.1016/j.lpm.2006.12.037. Epub 2007 Jun 4.
[Article in French]

Abstract

Screening for hereditary HFE hemochromatosis in the general population, by either phenotype or genotype, is not currently recommended by the French High Health Authority. Targeted screening for hereditary HFE hemochromatosis in groups with specific diseases (people with asthenia, arthropathic disorders, liver or heart disease, etc.) has not been shown to be effective. Family screening in first-degree relatives of any proband homozygous for C282Y is strongly advised. This should involve both phenotypic screening, that is, testing for serum iron markers and, if possible, a genotype study of siblings and adult children, conducted according to the rules for genetic counseling and testing. This type of screening is cost-effective. One obstacle today is that the national health insurance fund does not reimburse the HFE test.

MeSH terms

  • Arthropathy, Neurogenic / epidemiology
  • Asthenia / epidemiology
  • Biomarkers
  • Cost-Benefit Analysis
  • Female
  • Genetic Counseling
  • Genotype
  • Hemochromatosis / economics
  • Hemochromatosis / epidemiology*
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Insurance, Health, Reimbursement
  • Male
  • Mass Screening / economics
  • Mass Screening / methods*
  • Membrane Proteins / genetics*
  • Middle Aged
  • Phenotype

Substances

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