Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary.

Hereditary hemochromatosis (HH) is a common genetic disorder. Although it is inherited in an autosomal recessive manner, heterozygous individuals are believed to be protected against iron deficiency. Screening to estimate the prevalence of HH was frequently performed among blood donors, not considering that carriers of the HH gene mutations may be present in higher proportion in this population. To examine the allele frequencies of the HH gene (HFE) point mutations, C282Y and H63D genotyping was carried out in 996 consecutive, first-time, and regular Hungarian blood donors by PCR-RFLP techniques. Iron parameters of the first-time donors and the identified C282Y heterozygotes and age, gender, and number of previous blood donation-matched wild-type donors were also determined. We were not able to demonstrate a significant increase in the frequency of C282Y and H63D alleles among regular blood donors, compared to first-time blood donors. However, there was a trend of higher C282Y allele frequency among women with higher number of previous blood donations (2.2 +/- 1.5% in female blood donors with 0-8 previous blood donations compared to 4.8 +/- 2.3% in women with more than 8 previous blood donations, P = 0.06). No detectable phenotypic differences were observed in serum iron, ferritin, and transferrin saturation values between C282Y wild-type and heterozygous groups. However, the single identified C282Y homozygous male (age 21) showed definite signs of iron overload. Our observations suggest that the protective effect of C282Y heterozygosity against iron deficiency may be less significant than other environmental (e.g., iron-rich diet) or genetic factors. Copyright 2001 Academic Press.