Low prevalence of hereditary hemochromatosis in multiethnic populations in Northern Norway

Abstract

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.

Key Words::

• Ferritin
• hereditary hemochromatosis
• Kven
• Sami
• transferrin saturation

Acknowledgements

We are indebted to the participants in Sør-Varanger and Tromsø who made this study possible. We would also like to thank the staff at the Department of Clinical Chemistry, University Hospital of Northern Norway for technical assistance and careful evaluation of the results of the blood examination.

This work was supported by grants EXTRA funds from the Norwegian Foundation for Health and Rehabilitation, from the Northern Norway Regional Health Authority research fund, and from the research funds of the Savings Bank 1 Northern Norway.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.