THE SPECTRUM OF BETA-THALASSEMIA IN ALGERIA - POSSIBLE ORIGINS OF THEMOLECULAR HETEROGENEITY AND A TENTATIVE DIAGNOSTIC STRATEGY

We report here on the final results of an epidemiological survey invol ving 177 beta-thalassaemic chromosomes in Algeria. Four common mutatio ns account for 86% of the chromosomes, the other ones carrying nine ot her rare mutations. Combination of these results with those of other s maller regional epidemiological studies indicates the existence of sti ll a wider range of mutations. The nature and frequencies of these mut ations, their linkage with RFLP-haplotypes, agree well with the histor y of the region. Knowledge of this spectrum of mutations enables the d esign of a diagnosis strategy that takes into account the local econom ical constraints.