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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular heterogeneity of β-thalassemia in Algeria: How to face up to a major health problem
Hemoglobin, Volume 33, No. 1, Year 2009
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Description
This study concerns the molecular characterization of β-thalassemia (β-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the β-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. Copyright © Informa Healthcare USA, Inc.
Authors & Co-Authors
Boudrahem-Addour, Nassima
Algeria, Algiers
Université Des Sciences et de la Technologie Houari Boumediene
Zidani, Nadia
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Carion, Nathalie
France, Paris
Hopital Cochin Ap-hp
Labié, Dominique
France, Paris
Inserm
Belhani, Mériem
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Beldjord, Chérif
France, Paris
Hopital Cochin Ap-hp
France, Paris
Inserm
France, Paris
Université Paris Cité
Statistics
Citations: 21
Authors: 6
Affiliations: 5
Identifiers
Doi:
10.1080/03630260802626061
ISSN:
03630269
e-ISSN:
1532432X
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Study Locations
Algeria