Molecular Bases ofβ-Thalassemia in the Eastern Province of Saudi Arabia

[摘要] β-thalassemia is a group of heterogeneous recessivedisorders common in many parts of the world. Al-Qatif and Al-Hassaoases in the Eastern Province of Saudi Arabia are regions knownfor high frequency of these disorders. Using two molecularmethods, based on multiplexing-amplification refractory system andreverse hybridization principles, the spectrum ofβ-thalassemia in the region was studied. Sixty-nine subjects with knownβ-thalassemia disease and volunteers with high hemoglobinA2(HbA2)and low mean corpuscular volume (MCV) were included in this study. Ten mutations were detected in 91% of the subjects under study. Six of thesemutations had previously been observed while the other four mutations are reported here for the first time. In addition, four of the mutations accounted for76.8% of the subjects studied. IVSII-1 (G>A), IVSI-5 (G>A), and codon 39 (C>T) mutations were found to be the most frequent. However, thefrequencies of different mutations reported here are slightlydifferent from those reported earlier. A number of these mutationswere also found in the neighboring countries, which can beexplained in terms of gene flow.

[学科分类] 基础医学