title: Screening for hereditary haemochromatosis within families and beyond.
abstract: 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 haemochro matosis. 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.
authors.affiliation: Department of Haematology, University of Wales College of Medicine, Heath Park, CF14 4XN, Cardiff, UK. McCuneCA@cf.ac.uk
authors.forename: C Anne
authors.initials: CA
authors.lastname: McCune
authors.forename: David
authors.initials: D
authors.lastname: Ravine
authors.forename: Mark
authors.initials: M
authors.lastname: Worwood
authors.forename: Helen A
authors.initials: HA
authors.lastname: Jackson
authors.forename: H Martyn
authors.initials: HM
authors.lastname: Evans
authors.forename: David
authors.initials: D
authors.lastname: Hutton
mesh_terms: D000328:Adult; D001782:Blood Donors / Q000706:statistics & numerical data; D005190:Family; D005260:Female; D005293:Ferritins / Q000097:blood; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation / Q000235:genetics
chemical_list: D005293:Ferritins