No abstract

Summary. 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.

Hemochromatosis has been reported in several patients with chronic hemolytic anemia due to pyruvate kinase deficiency. We describe here a further patient with such an association and review the literature on the subject. We hypothesize that iron overload may occur in patients with pyruvate kinase deficiency who are also carriers of the hereditary hemochromatosis gene.