title: Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).
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.
authors.affiliation: Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Canada.
authors.forename: S R
authors.initials: SR
authors.lastname: Rivard
authors.forename: C
authors.initials: C
authors.lastname: Mura
authors.forename: H
authors.initials: H
authors.lastname: Simard
authors.forename: R
authors.initials: R
authors.lastname: Simard
authors.forename: D
authors.initials: D
authors.lastname: Grimard
authors.forename: G
authors.initials: G
authors.lastname: Le Gac
authors.forename: O
authors.initials: O
authors.lastname: Raguenes
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000209:etiology; D005192:Family Health; D005260:Female; D005293:Ferritins / Q000097:blood; D005838:Genotype; D006331:Heart Diseases / Q000209:etiology; D006432:Hemochromatosis / Q000097:blood / Q000150:complications / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D007501:Iron / Q000097:blood; D019190:Iron Overload / Q000097:blood / Q000235:genetics; D008103:Liver Cirrhosis / Q000209:etiology; D008297:Male; D009154:Mutation; D011792:Quebec; D014168:Transferrin / Q000378:metabolism
chemical_list: D014168:Transferrin; D005293:Ferritins; D007501:Iron