We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Natural history of HFE simple heterozygosity for C282 Y and H63 D: A prospective 12-year study.
- Authors
Zaloumis, Sophie G; Allen, Katrina J; Bertalli, Nadine A; Turkovic, Lidija; Delatycki, Martin B; Nicoll, Amanda J; McLaren, Christine E; English, Dallas R; Hopper, John L; Giles, Graham G; Anderson, Gregory J; Olynyk, John K; Powell, Lawrie W; Gurrin, Lyle C
- Abstract
Background and Aim The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282 Y or H63 D substitutions in the HFE protein was assessed using a prospective community-based cohort study. Methods HFE genotypes were measured for 31 192 persons of northern European descent, aged between 40 and 69 years when recruited to the Melbourne Collaborative Cohort Study, and subjects were followed for an average of 12 years. For a random sample of 1438 participants stratified according to HFE genotype, two sets of biochemical iron indices performed 12 years apart and, at follow-up only, the presence/absence of six disease features associated with hereditary hemochromatosis were obtained. Summary data for 257 (139 female) C282 Y simple heterozygotes and 123 (74 female) H63 D simple heterozygotes were compared with 330 (181 female) controls with neither HFE mutation. Results At baseline, mean transferrin saturation ( TS) (95% confidence interval) and prevalence of TS > 55% were 35.14% (33.25, 37.04) and 3/112 (3%), 33.03% (29.9, 36.15) and 0/39 (0%), and 29.67% (27.93, 31.4) and 3/135 (2%) for C282 Y, H63 D and wild-type male participants, respectively. At follow-up, mean TS levels remained similar to baseline levels for both men and women irrespective of simple heterozygosity for either mutation. No HFE C282 Y or H63 D simple heterozygotes had documented iron overload (based on hepatic iron measures or serum ferritin greater than 1000 mg/ L at baseline with documented therapeutic venesection). Conclusion No documented iron overload was observed for HFE simple heterozygotes for either C282 Y or H63 D, and morbidity for both HFE simple heterozygote groups was similar to that of HFE wild-type participants.
- Subjects
HEMOCHROMATOSIS; GENOTYPES; FERRITIN; PHLEBOTOMY; TRANSFERRIN
- Publication
Journal of Gastroenterology & Hepatology, 2015, Vol 30, Issue 4, p719
- ISSN
0815-9319
- Publication type
Article
- DOI
10.1111/jgh.12804