Frequency and spectrum of hemochromatosis mutations in Tunisia

Amine Zorai (1) , Cornelis Harteveld (2) , Radhouane Rachdi (3) , Koussay Dellagi (1) , Salem Abbes (1) , Paola Delbini (4) , Piero C. Giordano (2)

1 LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire
2 LUMC - Leiden University Medical Center
3 Military Hospital of Tunis
4 Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico

The occurrence of the C282Y and H63D mutations of the HFE gene, responsible for toxic iron overload in the liver (hereditary hemochromatosis), was still unknown in Tunisia. We report the screening of 194 chromosomes from 97 randomly collected cord blood samples. The mutations were analyzed by PCR followed by DNA sequencing. The mild H63D and the severe C282Y mutations were found in 17.5+/-5.34% and 0.5+/-0.97% of the alleles, respectively. The allele frequency of the IVS 2+4 T --> C polymorphism is high (46.4+/-7.01%) in this population. Risk for homozygosity for the severe C282Y mutation is present in the Tunisian population at a low theoretical incidence. However, due to the relatively high rate of consanguinity in the country, liver pathology due to HH is not to be disregarded.

Mots clés: C282Y; H63D; mutations; hemochromatosis; Tunisia

Domaines: Hématologie

Amine Zorai, Cornelis Harteveld, Radhouane Rachdi, Koussay Dellagi, Salem Abbes, et al.. Frequency and spectrum of hemochromatosis mutations in Tunisia. Hematology Journal, 2003, 4 (6), pp.433-435. ⟨10.1038/sj.thj.6200337⟩. ⟨pasteur-02050721⟩