We have updated the dataset of the molecular spectrum of the β-thalassemia (β-thal) in Upper
Egypt. Buccal swabs were analyzed from 94 unrelated patients with β-thal major (β-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 β-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. Fortythree
percent of Upper Egyptians were homozygotes. Our efforts were an important step to complete
the mutation map of β-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 β-thal
gene mutations in Africa, Asia, and Europe.