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Clinical and Molecular Aspects of Juvenile Hemochromatosis in Saguenay–Lac-Saint-Jean (Quebec, Canada)

2000; Elsevier BV; Volume: 26; Issue: 1 Linguagem: Inglês

10.1006/bcmd.2000.0271

1096-0961

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

Hemoglobinopathies and Related Disorders

ABSTRACT: We report the clinical, biochemical, and genetic characteristics of 13 hemochromatosis patients from Saguenay–Lac-Saint-Jean in whom the first symptoms appeared before age 30. Although the mean age at onset of the first symptoms was 21.5 years, their mean age at diagnosis was 23.8 years; the diagnosis was particularly delayed among women. Seventy-seven percent of the patients had hypogonadotrophic hypogonadism and 69% heart failure and/or cardiac arrhythmias. Genetic analysis of the HFE gene revealed heterozygosity for the C282Y mutation in 2 patients and for the S65C mutation in 2 others and homozygosity for the H63D mutation in 1 patient. The remaining 8 patients had no identified mutation in the HFE gene, although sequencing of all seven codons and intron–exon junctions was performed (5 patients). All 13 patients fulfill the clinical criteria of juvenile hemochromatosis and represent the largest cluster thus far reported.