Rivard S R, Mura C, Simard H, Simard R, Grimard D, Le Gac G, Raguenes O, Férec C, De Braekeleer M
Laboratoire de Microbiologie, Complexe Hospitalier de la Sagamie, Chicoutimi, Québec, Canada.
Br J Haematol. 2000 Mar;108(4):854-8. doi: 10.1046/j.1365-2141.2000.01954.x.
A mutation analysis of the HFE gene followed, when applicable, by sequencing was performed on 47 patients with hereditary haemochromatosis (HH) living in Saguenay-Lac-Saint-Jean. The C282Y and H63D mutations were present on 50% and 20.3% of the HH chromosomes respectively. These frequencies were very different from those found in other populations and could be, at least partially, the result of a founder effect. No new mutation was identified among the remaining 28.1% of the HH chromosomes. Five of the eight probands with no mutation in the HFE gene had a severe and early onset suggestive of juvenile haemochromatosis.
