Abstract
We have updated the dataset of the molecular spectrum of the beta-thalassemia (beta-thal) in Upper Egypt. Buccal swabs were analyzed from 94 unrelated patients with beta-thal major (beta-TM) using reverse dot-blot and multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The most frequent mutation was IVS-I-110 (G > A) (57%). The IVS-I-110, IVS-I-6 (T > C) and IVS-I-1 (G > A) mutations accounted for 87% of the beta-thal anomalies. The codon 39 (C > T) and frameshift codon (FSC) 6 (-A) (GAG >-GG) mutations were only detected in Al-Minya and Qina, respectively. We did not observe the IVS-II-745 (C > G) or-101 (C > T) mutations. Forty-three percent of Upper Egyptians were homozygotes. Our efforts were an important step to complete the mutation map of beta-thal in Egypt restricted to Cairo and the Nile Delta regions. This study will help to develop preventative programs for Upper Egyptians. It addressed the genetic drift of the beta-thal gene mutations in Africa, Asia, and Europe.