Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca

The C282Y mutation of the HFE gene has been reported to be present in most of the patients with hereditary haemochromatosis (HH) of Northern European ancestry. HH affects approximately 1/300 individuals, but it is not evenly distributed in the different European countries. In the present study, poly merase chain reaction (PCR) and restriction-enzyme digestion were used to a nalyse the frequency of the most important mutation in haemochromatosis (C2 82Y) in subjects from Majorca (Balearic Islands, Spain) and patients with h aemochromatosis. The results were compared with other studies from Spain an d Europe. A total of 420 Majorcan chromosomes were analysed and the C282Y m utation was observed at a frequency of 2.62% +/- 0.8 (11 heterozygotes: eig ht men and three women). In the group of hereditary haemochromatosis proban ds, 13 out of 14 were homozygous for the C282Y mutation. In the distributio n of the C282Y mutation. a north-west to south-east cline was detected, sup porting the Celtic origin of this mutation.