title: Frequency and spectrum of hemochromatosis mutations in Tunisia.
abstract: 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.
authors.affiliation: Hemoglobinopathies Group, Laboratory of Hematology, Pasteur Institute of Tunis, Tunis le Belvedere, Tunisia.
authors.forename: Amine
authors.initials: A
authors.lastname: Zorai
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Radhouane
authors.initials: R
authors.lastname: Rachdi
authors.forename: Koussay
authors.initials: K
authors.lastname: Dellagi
authors.forename: Salem
authors.initials: S
authors.lastname: Abbes
authors.forename: Paola
authors.initials: P
authors.lastname: Delbini
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D014416:Tunisia
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins