1. Objectifs

Intentions :
« The purpose of this report is to describe our clinical and biochemical observations in family members separated into genotypes, notably by HLA typing. » (p. 338)

2. Méthode

Échantillon/Matériau :
« We have studied 30 nuclear families affected with HH in Saguenay-Lac-Saint-Jean. Inbreeeding was found in 7 families including one marriage between first-degree cousins, one between first-degree cousins once removed and 3 between second-degree cousins. In one family, an ancestor couple was found to be common to all 4 grandparents of the hemochromatosis patients. The archives of all hospitals of Saguenay-Lac-Saint-Jean were searched for patient files with a diagnosis of hemochromatosis. Files were also extracted at the department of Hematology of the ’Hopital de Chicoutimi’, which is the referral center for the whole region for treatment of hemochromatosis. The diagnostic of HH was confirmed by a liver biopsy in at least one member of each family. » (pp. 337-338)

Instruments :
« Clinical, HLA and laboratory data were extracted from the patients’ files. Most of the data was in fact collected during an intrafamilial survey during which available and consenting family members were interviewed, and blood was obtained for analysis. » (p. 338)

Type de traitement de données :
Analyse de contenu

3. Résumé

« The authors have analyzed the clinical and biochemical data collected in 30 families with hereditary hemochromatosis (HH) from Saguenay-Lac-Saint-Jean. The clinical manifestations of HH were similar to those previously described. However, the mean age at diagnosis of the probands was much lower than usually reported (35 versus 50 years) and was associated with a greater severity at a young age; this was particularly true for 7 inbred probands compared non-inbred probands. Percent transferrin saturation was the best biochemical indicator of genotype in the families studied while ferritin appeared to be an indicator of progress of the disease. Our results suggest that the high variability in the biochemical abnormalities and the age at onset and severity of the clinical signs in the HH homozygotes are the result not only of mutation variability, but also, at least partially, of the action of modifying genes and /or other genes involved in iron metabolism. » (p. 337)