The spectrum of β‐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.

Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations.

“…(s) These mutations also seem to be predominant in North African populations, although so far only the urban areas of Tunisia and Algeria have been investigated partially. (11) The same mutation frequency could be present in other Mediterranean populations that as of yet have been evaluated only partially. Between 50% and 75% of existing mutations are of one of these two types.…”

Spectrum of β thalassemia mutations and HbF levels in the heterozygous Moroccan population

“…The latter opposes the rarity of ␤ + IVS1,nt110 (2%), in association with haplotype I, as in Algeria [30], Tunisia [31], and Portugal [18,32], supporting the idea of a recent introduction in the Moroccan genetic background. The third most frequent mutation is ␤ + IVS1,nt6 (T→C) (14%) in haplotypes VI and VII as described in Portugal [18,32,33], whereas in Algeria, Tunisia, and Egypt it is associated with haplotype VI [34,35]. ␤ 0 IVS1,nt1 (G→A), found mostly in Berbers in Algeria associated with haplotypes I, III, V, IX, and A [36,37], is found in Morocco in haplotypes IV and V with a frequency of 13%.…”

The Spectrum of β‐Thalassemia Mutations in the Arab Populations

“…Still, as much of the currently available data have been collected and pooled and the reported mutations and their corresponding frequencies in twelve different countries have been tabulated for comparison (see Table 1). These include Syria [1], Lebanon [2, 3, 4], Jordan [5], Israeli Arabs [6] and Arabs from the Gaza strip [7], Saudi-Arabia [8, 9, 10, 11], Kuwait [12], Bahrain [13], the United Arab Emirates (UAE) [14, 15, 16, 17], Oman [18], Egypt [19, 20, 21, 22, 23], Tunisia [24, 25], and Algeria [26, 27, 28]. …”