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

2000; Wiley; Volume: 108; Issue: 4 Linguagem: Inglês

10.1046/j.1365-2141.2000.01954.x

1365-2141

Sylvain R. Rivard, Catherine Mura, Hervé Simard, R. Simard, Doria Grimard, Gérald Le Gac, Odile Raguénès, Claude Férec, Marc De Braekeleer,

Trace Elements in Health

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.