The two main mutations of the HFE (haemochromatosis) gene, C282Y and H63D,
were found previously to be rare or absent among Africans. Dried blood samp
les of 1276 newborns from southern France were analysed for both HFE mutati
ons, and the origins of the four grandparents of each newborn were recorded
. The allele frequency of C282Y and H63D was 3.0% +/- 0.7% and 16.9% +/- 1.
5% respectively. In a subgroup of 171 newborns with four North African ance
stries (mainly from Morocco and Algeria) the allele frequency was 0.9% (+2.
5%)(-0.2%) for the C282Y and 13.2% +/- 3.6% for H63D. HFE mutations are not
absent in individuals with North African origins living in southern Europe
. This finding has implications for the diagnosis and screening of heredita
ry haemochromatosis in these populations.