Low prevalence of hereditary hemochromatosis in multiethnic populations in Northern Norway.

Autor: Broderstad AR; Institute of Community Medicine, University of Tromsø, Norway. Ann.Ragnhild.Broderstad@uit.no, Smith-Sivertsen T, Dahl IM, Ingebretsen OC, Lund E
Jazyk: angličtina
Zdroj: Scandinavian journal of gastroenterology [Scand J Gastroenterol] 2011 Mar; Vol. 46 (3), pp. 350-7. Date of Electronic Publication: 2010 Oct 18.
DOI: 10.3109/00365521.2010.525713
Abstrakt: Objective: Hereditary hemochromatosis has an autosomal recessive inheritance. The C282Y homozygosity is the most common genetic mutation in persons of Northern European descent. A screen of two multiethnic populations in Northern Norway was performed to investigate whether the prevalence of hereditary hemochromatosis was consistent with previous results in Northern Europe.
Material and Methods: Participants in two population-based studies in Northern Norway were analyzed for serum ferritin (s-ferritin) and transferrin saturation. Participants with s-ferritin or transferrin saturation above the reference limits in two separate blood samples were tested for three different HFE mutations, namely C282Y, H63D and S65.
Results: The estimated prevalence of the C282Y/C282Y mutation in the two municipalities studied was lower than in comparable studies in Norway. The prevalence was the lowest in the Sør-Varanger population (men 0.19% and women 0.22%), which also had the highest proportion of individuals with Sami and Kven affiliation. In Tromsø, the prevalence was consistent with previous results in Norway.
Conclusions: The prevalence of hereditary hemochromatosis is lower in multiethnic populations in Northern Norway than in previous studies from other parts of Norway.
Databáze: MEDLINE