Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)

A mutation analysis of the HFE gene followed, when applicable, by sequencin g was performed on 47 patients with hereditary haemochromatosis (HH) living in Saguenay-Lac-Saint-Jean. The C2 82Y and H63D mutations were present on 50% and 20.3% of the HH chromosomes respectively. These frequencies were ve ry different from those found in other populations and could be, at least p artially, the result of a founder effect. No new mutation was identified am ong the remaining 28.1% of the HH chromosomes. Five of the eight probands w ith no mutation in the HFE gene had a severe and early onset suggestive of juvenile haemochromatosis.