Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).
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.
Rivard
S R
SR
Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Canada.
Mura
C
C
Simard
H
H
Simard
R
R
Grimard
D
D
Le Gac
G
G
Raguenes
O
O
Férec
C
C
De Braekeleer
M
M
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
D014168:Transferrin; D005293:Ferritins; D007501:Iron