Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands

Abstract

The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C282Y, H63D, and S65C in the population in the Faroe Islands. The series comprised 200 randomly selected blood donors of Faroese heritage. The frequency of the C282Y, H63D, and S65C mutations on the HFE gene was assessed by genotyping using the polymerase chain reaction (PCR) technique and calculated from direct allele counting. We found no C282Y homozygous subjects; 28 (14.0%) subjects were C282Y heterozygous and four subjects were C282Y/H63D compound heterozygous (2.0%). The C282Y allele frequency was 8.0% (95% CI 5.3-10.7%). The series contained three (1.5%) H63D homozygous subjects and 60 (30.0%) H63D heterozygous subjects. The H63D allele frequency was 17.5% (95% CI 13.8-21.2%). There were four (2.0%) S65C heterozygous subjects. The S65C allele frequency was 1.0% (95% CI 0.3-2.5%). The frequency of the C282Y mutation is high in Faroese blood donors, being close to and not significantly different from the frequencies reported in other Scandinavian countries: Denmark 5.7%, Norway 6.6%, Iceland 5.1%, and Sweden 6.1%. The frequency of the H63D mutation in Faroese subjects is significantly higher than the frequency in Denmark 12.8% (p=0.007), Iceland 10.9% (p=0.003), and Sweden 12.4% (p=0.015), but not from the frequency in Norway 11.2% (p=0.063). The frequency of the S65C mutation in Faroese subjects is not significantly different from the frequencies in Denmark 1.5% and Sweden 1.6%. Screening of larger groups of the Faroese population for HFE mutations especially C282Y should be considered in order to establish the penetrance.

HFE gene mutations and iron status of Brazilian blood donors

“…The HFE 65C allele frequency (0.6%, P > 0.05) in this sample was similar to that found in another Brazilian study (1.0%) (15) and in blood donors from Northern Italy (0.74%) (25) and from the Faroe Islands (1.0%) (27).…”

“…However, the frequency of this allele was lower (P < 0.05) than those found in blood donors from Northern Italy (4.7%) (25) and Northern Europe (5.1 to 8.2%) (5,26,27). In addition, it is known that the HFE C282Y mutation is rare in non-Caucasians (5,28).…”

The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

“…First, published studies on the frequency of the C282Y allele from The Faroe Islands (Merryweather‐Clarke et al, 1998; Milman et al, 2005) and Iceland (Merryweather‐Clarke et al, 1997, 1999) are not included in our study. Current archaeological evidence suggests that the Faroe Islands may have been sparsely occupied before the Vikings as early as the 4th century ACE (Church et al, 2013) but the evidence is not associated with Neolithic occupation.…”

Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population

“…Examples of diseases are glycogen storage disease type IIIA (GSD IIIA) [18], hereditary hemochromatosis HFE [19], cystic fibrosis CF [20], primary ciliary dyskinesia [17] and classical non-AIDS-related Kaposi's sarcoma [21].…”