Population genetic screening for hereditary haemochromatosis

Gertig, Dorota M; Hopper, John L; Allen, Katrina J

doi:10.5694/j.1326-5377.2003.tb05673.x

Topics

Digestive system diseases

Medical genetics

Even for a simple genetic condition, screening the general population is not straightforward

1 Centre for Genetic Epidemiology, School of Population Health, University of Melbourne, Carlton, VIC.
2 Department of Gastroenterology and Nutrition, Royal Children’s Hospital, Parkville, VIC.

Correspondence:

1. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
2. Medicare Benefits Schedule item statistics report. Item 66794, by calendar years. Available at: www.hic.gov.au/statistics/dyn_mbs/forms/mbs_tab4.shtml (accessed Oct 2003).
3. Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999; 341: 718-724.
4. Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G→EA (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359: 211-218.
5. Allen KJ, Warner B, Delatycki MB. Clinical haemochromatosis in HFE mutation carriers. Lancet 2002; 360: 412-413.
6. Leggett BA, Brown NN, Bryant SJ, et al. Factors affecting the concentrations of ferritin in serum in a healthy Australian population. Clin Chem 1990; 36: 1350-1355.
7. Gertig DM, Fletcher A, Hopper JL. Public health aspects of genetic screening for hereditary haemochromatosis in Australia. Aust N Z J Public Health 2002; 26: 518-524.
8. Burke W, Thomson E, Khoury MJ, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998; 280: 172-178.
9. Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000; 33: 485-504.
10. Delatycki M, Allen K, Williamson R. Insurance agreement to facilitate genetic testing [letter]. Lancet 2002; 359: 1433.
11. Allen K, Williamson R. Screening for hereditary haemochromatosis should be implemented now [letter]. BMJ 2000; 320: 183-184.
12. Bulaj ZJ, Ajioka RS, Phillips JD, et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000; 343: 1529-1535.

Online responses are no longer available. Please refer to our instructions for authors page for more information.