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Screening for hereditary haemochromatosis within families and beyond

C Anne McCune1, David Ravine, Mark Worwood

  • 1Department of Haematology, University of Wales College of Medicine, Heath Park, CF14 4XN, Cardiff, UK. McCuneCA@cf.ac.uk

Lancet (London, England)
|December 12, 2003
PubMed

Insights

Genetic screening for hereditary haemochromatosis (HH) in blood donors has low family testing uptake. Clinical diagnosis of HH yields higher relative testing rates, impacting population screening efficacy.

Area of Science:

  • Medical Genetics
  • Public Health
  • Clinical Medicine

Background:

  • Population screening for hereditary haemochromatosis (HH) aims for cost-effectiveness through family member identification.
  • The C282Y mutation is a primary genetic cause of HH.

Purpose of the Study:

  • To compare the uptake of genetic screening among first-degree relatives from two index case groups: blood donors with the C282Y mutation and clinically diagnosed HH patients.
  • To assess the impact of ascertainment method on family screening effectiveness.

Main Methods:

  • Retrospective analysis of screening uptake in first-degree relatives.
  • Comparison between relatives of C282Y-positive blood donors and clinically diagnosed HH patients.
  • Assessment of undiagnosed iron overload in untested relatives.

Main Results:

  • Only 24% (40/165) of relatives of blood donors underwent genetic testing.
  • Testing uptake was significantly higher (53%) in relatives of clinically diagnosed HH patients.
  • A considerable proportion of untested relatives had undiagnosed iron overload.

Conclusions:

  • Current population screening strategies for HH, relying on blood donor ascertainment, show limited success in engaging family members.
  • Clinical ascertainment of HH leads to better family screening participation.
  • Low uptake undermines the overall effectiveness of population-based HH screening programs.

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