Screening for hereditary haemochromatosis within families and beyond

Screening programmes for haemochromatosis that include follow-up identification of relatives are claimed to be cost effective. We assessed uptake of screening by first-degree relatives of two groups of index cases: people homozygous for the C282Y mutation ascertained by genetic screening of blood do...

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Bibliographic Details
Published in:The Lancet (British edition) 2003-12, Vol.362 (9399), p.1897-1898
Main Authors: McCune, C Anne, Ravine, David, Worwood, Mark, Jackson, Helen A, Evans, H Martyn, Hutton, David
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Blood
Blood & organ donations
Blood donors
Blood Donors - statistics & numerical data
Cost analysis
Families & family life
Family
Female
Ferritins - blood
Genetic Predisposition to Disease - genetics
Genetic screening
Genetic Testing
Genetics
Hemochromatosis - blood
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Heredity
Homozygosity
Homozygote
Humans
Interviews
Iron
Male
Mass Screening
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Middle Aged
Mutation
Mutation - genetics
Other metabolic disorders
Patients
R&D
Research & development
Screening
Siblings
Unstructured data
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Summary:Screening programmes for haemochromatosis that include follow-up identification of relatives are claimed to be cost effective. We assessed uptake of screening by first-degree relatives of two groups of index cases: people homozygous for the C282Y mutation ascertained by genetic screening of blood donors; and patients presenting clinically with haemochromatosis. Only 40 (24%) of 165 relatives of blood donors had been tested. By contrast, testing uptake in 121 relatives of patients diagnosed clinically was more than double that (53%), despite unstructured provision of genetic information. A substantial number of untested relatives had undiagnosed iron overload. Overall efficacy of population screening for haemochromatosis is undermined by these observations.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(03)14963-X