Frequencies of Three Targeted HBB Gene Mutations Among Transfusion-Dependent Β-Thalassemia Patients from Southern Punjab, Pakistan

Beta-thalassemia is a blood disorder characterised by the low production of β-globin chains in haemoglobin. The identification of the most frequent β-thalassemia mutation in Southern Punjab remains limited. We employed an allele-specific Polymerase Chain Reaction (AS-PCR) method to investigate three common mutations in 366 patients with β-thalassemia using peripheral blood samples. Three pairs of primers were used to detect the three distinct β-thalassemia mutations. The selected mutations were IVS-1-5 (G>C), frame-shift-codon 8/9 (+G), and codon 41/42 (-TCTT), referred to as mutations 1, 2, and 3, respectively. None of the three targeted mutations was detected in 172(47.0%) patients. The most frequently observed mutation detected in the population was mutation 1, found in 91 (24.9%) patients, followed by mutation 3 in 62 (16.9%) and mutation 2 in 41 (11.2%) patients. In the Southern Punjab population, the most common beta-thalassemia mutation among the targeted mutations was mutation 1, followed by mutations 3 and 2. Statistical analysis revealed that the frequencies were not equal among the targeted mutations, as χ2 (2) = 19.49, and P < 0.001. The absence of these three mutations in the 172 patients points to the prevalence of mutations other than the three common mutations considered in this study.