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Molecular characterization of β-thalassemia mutations in Egypt

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Summary

The relative frequency of different β-thalassemia mutations and their association with β-globin haplotypes were studied in patients from the Nile delta region, Egypt, by means of the polymerase chain reaction, oligonucleotide hybridization and restriction analysis. We found that 8 mutations account for 77% of β-thalassemia chromosomes in this population, the commonest being IVS-1 nt 110, IVS-1 nt 6 and IVS-1 nt 1. Each mutation was associated with a specific haplotype, with the exception of IVS-1 nt 110, found on 3 different chromosomal backgrounds. Our data show that testing for the 8 detectable mutations makes feasible prenatal diagnosis in 65% of at risk couples and exclusion testing in an additional 25% of cases.

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Novelletto, A., Hafez, M., Deidda, G. et al. Molecular characterization of β-thalassemia mutations in Egypt. Hum Genet 85, 272–274 (1990). https://doi.org/10.1007/BF00206744

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  • DOI: https://doi.org/10.1007/BF00206744

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