Monitoring Molecular Heterogeneity of β-thalassemia Syndrome in District Nowshehra

Among the reported single gene disorders/syndrome, hemoglobin infection is the most common and widespread genetic disorder. Thalassemia arises from defect in red blood cell proteinaceous component (hemoglobin), which carries oxygen and may lead to anemia. Present study aimed to detect the common molecular abnormalities of β-thalassemia syndrome in district Nowshehra, Khyber Pakhtunkhwa, Pakistan. This work was conducted at Abdul Wali Khan University, Mardan, the reports collecting blood samples from patients (average age 13 years) and their families with β-thalassemia major (n = 13 families) belonged to district Nowshehra. The assembled blood samples from the patients were tested for the presence of most common mutations, using Polymerase Chain Reaction (PCR). This study reports six known mutations (IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5) comprising 90% of the total β-thalassemia genes in Pakistan. In our study, IVS 1-5 and FSC-8/9 were the most widespread β-thalassemia gene mutation detected in patients belonging to district Nowshehra. The findings of the study can be used to get an idea about the most common mutation in this region and in designing pre-natal programmes to control the genetic disease.