Background: Hereditary hemochromatosis is one of the most common monogenic diseases among Caucasians. The most frequent mutation causing hemochromatosis is C282Y in the HFE gene, the highest frequency of which has been observed in populations of Celtic origin. There are no studies providing information about the frequency of the C282Y and H63D mutations in the HFE gene in populations of Slavic origin.
Material and methods: We collected 871 healthy unrelated subjects in Poland to assess the relevant frequencies. Each subject was genotyped for the C282Y and H63D mutations using a PCR-based protocol.
Results: Among the analysed subjects 6.0% were CY heterozygotes, and only one person was YY homozygote. The observed frequency of the 282Y allele was 3.1%. The frequency of the D allele of the H63D polymorphism was 16.2%. There were 13 (1.5%) compound heterozygotes for C282Y and H63D found in the analysed group.
Conclusion: The high frequency of the Y allele in this Polish population of non-Celtic origin may indicate an early introduction of this mutation through admixture with a strong positive selection.