HFE mutations in the elderly

Most individuals diagnosed with hereditary hemochromatosis have mutations in both copies of the HFE gene, with such mutations being common in populations of north European origin. The number of individuals currently diagnosed and treated for hemochromatosis is small relative to the number carrying t...

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Bibliographic Details
Published in:Blood cells, molecules, & diseases molecules, & diseases, 2003-09, Vol.31 (2), p.240-246
Main Authors: Willis, Gavin, Wimperis, Jennie Z, Smith, Katy, Fellows, Ian W, Jennings, Barbara A
Format: Article
Language:English
Subjects:
187G
193T
845A
Aged
Ageing
Base Sequence
C282Y
Elderly
Female
Genotype
H63D
Hemochromatosis
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Hemochromatosis Protein
HFE
Histocompatibility Antigens Class I - genetics
HLA-H
Humans
Iron
Male
Membrane Proteins - genetics
Molecular Sequence Data
Old
Point Mutation
S65C
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Summary:Most individuals diagnosed with hereditary hemochromatosis have mutations in both copies of the HFE gene, with such mutations being common in populations of north European origin. The number of individuals currently diagnosed and treated for hemochromatosis is small relative to the number carrying two HFE mutations. Studies searching for undiagnosed hemochromatosis cases among disease cohorts have generally failed to find the number of cases that would be expected if disease were the commonest outcome for individuals with two C282Y HFE mutations. Our aim was to test the hypothesis that individuals with two HFE mutations would be under-represented in an elderly population because many would have died from disease caused by hemochromatosis before they reached old age. This is a cross-sectional study of elderly patients referred for full blood counts at the Norfolk and Norwich University Hospital. We screened blood samples from 1000 elderly men (aged 85 and over) and women (aged 89 and over) for the C282Y, H63D, and S65C mutations of the HFE gene. We also analyzed any recent laboratory data relevant to signs of hemochromatosis. None of the ten possible genotypes was significantly under- or over-represented compared to the expected frequency calculated from the Hardy-Weinberg equation. Four C282Y homozygotes were found. There were few significant differences in the laboratory findings between the genotypes. Our data suggest that most people with HFE mutations survive to old age and do not suffer from signs of iron overload and hemochromatosis.
ISSN:1079-9796
1096-0961
DOI:10.1016/S1079-9796(03)00158-X