Prevalence of the H63D and C282Y Mutations in the HFE Gene in 3,015 Blood Donors from Southwestern Germany

Abstract

Background: Hereditary haemochromatosis (HH) is the most common genetic disease with a prevalence of 1:200–1:400 in Northern Europe. In most cases HH is caused by two mutations of the HFE gene (H63D and C282Y). As haemochromatosis leads to elevated iron uptake it is conceivable that blood donors with HFE mutation might be refused from giving a donation less often than donors without the mutation. Therefore, HFE mutations might be overrepresented among frequent blood donors. This study aimed to determine the prevalence of HFE mutations in a blood donor population from Southwestern Germany. Material and Methods: The HFE mutations H63D and C282Y were analysed in 3,015 samples by PCR-SSP typing. Age and sex of the donors were considered as well as the number of blood donations. Results: No differences in frequency of both mutations could be observed between first-time and frequent donors. The prevalence of the H63D mutations was higher among female than male donors: 28.6 vs. 24.3%; p = 0.007, whereas the genotype frequencies containing the C282Y mutation were similar between male and female donors. Compared to populations from Australia or South Wales the prevalence of the C282Y mutation was lower in our blood donor population (14.8–15.8 vs. 9.0%; p < 0,0001). Conclusions: The proposed overrepresentation of HFE mutations among frequent donors could not be confirmed. However, we found a higher prevalence of the H63D mutation in female donors than in male donors. One might therefore presume that blood donation in addition to the loss of blood due to menstruation is compensated more adequately in female H63D mutation carriers than in females without H63D mutation. This mutation seems to elevate the iron uptake so that female mutation carriers may have a higher chance to be admitted for blood donation. Individuals with diagnosed haemochromatosis-linked mutations should be informed about the potential health benefit from periodical blood donation and the admittance of such donors should be considered in Germany.