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HFE mutations in the elderly.

Gavin Willis1, Jennie Z Wimperis, Katy Smith

  • 1Department of Molecular Genetics, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK.

Blood Cells, Molecules & Diseases
|September 16, 2003
PubMed
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Most individuals with hereditary hemochromatosis HFE gene mutations survive to old age. This study found no under-representation of HFE genotypes in the elderly, suggesting they do not commonly develop severe iron overload disease.

Area of Science:

  • Genetics
  • Internal Medicine
  • Geriatrics

Background:

  • Hereditary hemochromatosis is often linked to HFE gene mutations, particularly in Northern European populations.
  • A discrepancy exists between the prevalence of HFE mutations and diagnosed hemochromatosis cases.
  • Previous studies have not identified the expected number of undiagnosed hemochromatosis cases in disease cohorts.

Purpose of the Study:

  • To investigate the hypothesis that individuals with two HFE mutations are under-represented in the elderly due to premature death from hemochromatosis.
  • To determine the survival rate and clinical manifestation of HFE mutations in an elderly population.

Main Methods:

  • Cross-sectional study of 1,000 elderly individuals (men ≥85, women ≥89) at Norfolk and Norwich University Hospital.

Related Experiment Videos

  • Screening of blood samples for HFE gene mutations: C282Y, H63D, and S65C.
  • Analysis of laboratory data for signs of iron overload and hemochromatosis.

    • Main Results:

    • No significant under- or over-representation of HFE genotypes was observed compared to Hardy-Weinberg equilibrium predictions.
    • Four individuals with C282Y homozygosity were identified.
    • Few significant differences in laboratory findings were noted between different HFE genotypes.

    Conclusions:

    • The majority of individuals with HFE mutations reach old age.
    • HFE mutations do not frequently lead to severe iron overload or symptomatic hemochromatosis in the elderly population.
    • Current diagnostic and treatment numbers for hemochromatosis may not fully reflect the prevalence of HFE mutations.