title: Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.
abstract: HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assessed whether such screening was suitable for communities. Cheek-brush screening for the Cys282Tyr HFE mutation was offered to individuals in the workplace. Outcomes were assessed by questionnaires before and after testing. 11,307 individuals were screened. We recorded no increase in anxiety in individuals who were homozygous for the Cys282Tyr mutation or non-homozygous. Self-reported tiredness before testing was significantly higher in homozygous participants than in non-homozygous participants (chi2 test, p=0.029). Of the 47 homozygous individuals identified, 46 have taken steps to treat or prevent iron accumulation. Population genetic screening for HFE-associated hereditary haemochromatosis can be practicable and acceptable.
authors.affiliation: Murdoch Children's Research Institute, Parkville, Australia.
authors.forename: M B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: K J
authors.initials: KJ
authors.lastname: Allen
authors.forename: A E
authors.initials: AE
authors.lastname: Nisselle
authors.forename: V
authors.initials: V
authors.lastname: Collins
authors.forename: S
authors.initials: S
authors.lastname: Metcalfe
authors.forename: D
authors.initials: D
authors.lastname: du Sart
authors.forename: J
authors.initials: J
authors.lastname: Halliday
authors.forename: M A
authors.initials: MA
authors.lastname: Aitken
authors.forename: I
authors.initials: I
authors.lastname: Macciocca
authors.forename: V
authors.initials: V
authors.lastname: Hill
authors.forename: A
authors.initials: A
authors.lastname: Wakefield
authors.forename: A
authors.initials: A
authors.lastname: Ritchie
authors.forename: A A
authors.initials: AA
authors.lastname: Gason
authors.forename: A J
authors.initials: AJ
authors.lastname: Nicoll
authors.forename: L W
authors.initials: LW
authors.lastname: Powell
authors.forename: R
authors.initials: R
authors.lastname: Williamson
mesh_terms: D000328:Adult; D001294:Attitude to Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D008107:Liver Diseases / Q000150:complications; D008297:Male; D008403:Mass Screening; D008565:Membrane Proteins / Q000032:analysis*; D008875:Middle Aged; D009154:Mutation
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins