The spectrum of beta-thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy.
We report here on the final results of an epidemiological survey involving 177 beta-thalassaemic chromosomes in Algeria. Four common mutations account for 86% of the chromosomes, the other ones carrying nine other rare mutations. Combination of these results with those of other smaller regional epidemiological studies indicates the existence of still a wider range of mutations. The nature and frequencies of these mutations, their linkage with RFLP-haplotypes, agree well with the history of the region. Knowledge of this spectrum of mutations enables the design of a diagnosis strategy that takes into account the local economical constraints.
Bennani
C
C
Centre de Transfusion Sanguine, Hôpital Mustapha, Alger, Algérie.
Tamouza
R
R
Rouabhi
F
F
Benabadji
M
M
Malou
M
M
Elion
J
J
Labie
D
D
Beldjord
C
C
D000293:Adolescent; D000462:Algeria / Q000453:epidemiology; D002648:Child; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*