title: Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.
abstract: This study concerns the molecular characterization of beta-thalassemia (beta-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the beta-thalassemic chromosomes. Twenty-one molecular defects have been found, where the five dominant mutations, IVS-I-110 (G>A), nonsense mutation at codon 39 (C>T), the frameshift codon (FSC) 6 (-A), IVS-I-1 (G>A), and IVS-I-6 (T>C), account for 80% of the independent chromosomes. Among the remaining alleles, 16 different mutations were identified, half of them being described for the first time in Algeria. These include the -101 (C>T) and the -90 (C>T) mutations in the distal and proximal promoter elements, respectively, the FSC 8 (-AA), IVS-I-5 (G>T), IVS-I-128 (T>G), FSC 47 (+A), IVS-II-1 (G>A), and the substitution in the polyadenylation signal (poly A) site AATAAA>AATGAA. Haplotype analyses on rare variants were performed. The possible origin of these mutations either by founder effect or by migrations is discussed, and raises the question of an adequate strategy to be used adapted to socio-economical status.
authors.affiliation: Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediène, Alger, Algérie.
authors.forename: Nassima
authors.initials: N
authors.lastname: Boudrahem-Addour
authors.forename: Nadia
authors.initials: N
authors.lastname: Zidani
authors.forename: Nathalie
authors.initials: N
authors.lastname: Carion
authors.forename: Dominique
authors.initials: D
authors.lastname: Labie
authors.forename: Meriem
authors.initials: M
authors.lastname: Belhani
authors.forename: Cherif
authors.initials: C
authors.lastname: Beldjord
mesh_terms: D000462:Algeria / Q000453:epidemiology; D000483:Alleles; D002877:Chromosomes, Human; D004252:DNA Mutational Analysis; D004641:Emigration and Immigration; D018703:Founder Effect; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D017086:beta-Thalassemia / Q000235:genetics*