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

• Published in: British journal of haematology 2000-03, Vol.108 (4), p.854-858
• Main Authors: Rivard, Sylvain R., Mura, Catherine, Simard, Hervé, Simard, Raynald, Grimard, Doria, Le Gac, Gérald, Raguenes, Odile, Férec, Claude, De Braekeleer, Marc
• Format: Article
• Language: English
• Subjects: Alleles; Biological and medical sciences; Diseases of red blood cells; DNA Mutational Analysis; Female; Founder Effect; Genotype; haemochromatosis; Hematologic and hematopoietic diseases; Hematology; Hemochromatosis - epidemiology; Hemochromatosis - genetics; Hemochromatosis Protein; Histocompatibility Antigens Class I - genetics; HLA Antigens - genetics; Homozygote; Humans; Male; Medical sciences; Membrane Proteins; mutation analysis; Pedigree; Point Mutation; Polycythemias; Prevalence; Quebec; Quebec - epidemiology
• ISSN: 0007-1048; 1365-2141
• 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.