Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men.

The objective was to assess the frequencies of haemochromatosis (HFE) gene mutations or variants C282Y, H63D and S65C in ethnic Danes. This is a prospective epidemiologic population study. A cohort of 6,020 Danish men aged 30-50 years was screened for HFE C282Y (c845G-->A), H63D (c187C-->G) and S65C (c193A-->T) gene variants, assessed on saliva or blood samples by restriction fragment length polymorphism (RFLP) analysis. The C282Y gene variant allele was present in 5.6%, H63D in 12.8% and S65C in 1.8% of the chromosomes. In the entire series, we observed 1.4% H63D/C282Y, 0.1% S65C/C282Y and 0.4% H63D/S65C compound heterozygotes. The C282Y allele frequency in Denmark is of similar order as reported in other Scandinavian countries: Iceland 5.1%, Faeroe Islands 6.6%, Norway 6.8% and Sweden 5.8%. Also, the H63D frequency in Denmark is close to the frequencies in other Scandinavian countries: Iceland 10.9%, Faeroe Islands 15.2%, Norway 11.4% and Sweden 12.1%.