Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

• Published in: The Lancet (British edition) Vol. 366; no. 9482; pp. 314 - 316
• Main Authors: Delatycki, MB, Allen, KJ, Nisselle, AE, Collins, V, Metcalfe, S, du Sart, D, Halliday, J, Aitken, MA, Macciocca, I, Hill, V, Wakefield, A, Ritchie, A, Gason, AA, Nicoll, AJ, Powell, LW, Williamson, R
• Format: Journal Article
• Language: English
• Published: London Elsevier Ltd 23.07.2005; Lancet; Elsevier Limited
• Subjects: Adult; Attitude to Health; Biological and medical sciences; Community; Disease; Female; General aspects; Genetic Predisposition to Disease; Genetic screening; Genetic Testing - psychology; Genetics; Hemochromatosis - complications; Hemochromatosis - diagnosis; Hemochromatosis - metabolism; Hemochromatosis Protein; Histocompatibility Antigens Class I - analysis; Homozygote; Humans; Iron; Liver Diseases - complications; Male; Mass Screening; Medical sciences; Medical screening; Membrane Proteins - analysis; Metabolic diseases; Metals (hemochromatosis...); Middle Aged; Mutation; Other metabolic disorders; Medicine; Prevention; Hemochromatosis; Use; Metabolic diseases; Genetics; Iron; Medical screening; Hereditary; Enzymopathy; Community; Genetic disease
• ISSN: 0140-6736; 0099-5355; 1474-547X
• DOI: 10.1016/S0140-6736(05)63012-7

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 (χ 2 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.