The spectrum of beta-thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy.

Abstract

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.

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@article{Bennani1993TheSO, title={The spectrum of beta-thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy.}, author={C. Bennani and Ryad Tamouza and Fatiha Rouabhi and Mohamed Benabadji and Monia Malou and Jacques E Elion and Dominique Labie and Ch{\'e}rif Beldjord}, journal={British journal of haematology}, year={1993}, volume={84 2}, pages={335-7} }