Spectrum of β-Thalassaemia Mutations in the Population of Saudi Arabia

Abstract

A study of beta-thalassaemia alleles in 29 beta-thalassaemia homozygotes and HbS/beta-thalassaemia patients from western Saudi Arabia using the allele-specific priming technique of the polymerase chain reaction revealed a total of five mutations. The spectrum of mutations found in the western region is significantly different to that previously reported in the eastern region, and brings the total number of mutations observed in Saudi Arabian nationals to ten. A comparison of the types and frequencies of the Saudi Arabian mutations with those found in neighboring Arab countries is made.