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The spectrum of β‐thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategy
Author(s) -
Bennani C.,
Tamouza R.,
Rouabhi F.,
Benabadji M.,
Malou M.,
Elion J.,
Labie D.,
Beldjord C.
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb03075.x
Subject(s) - haplotype , genetics , mutation , biology , evolutionary biology , restriction fragment length polymorphism , epidemiology , genetic heterogeneity , linkage (software) , range (aeronautics) , medicine , gene , genotype , pathology , materials science , composite material , phenotype
Summary. We report here on the final results of an epidemiological survey involving 177 β‐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.