Molecular genetics of beta-thalassaemia syndrome in Pakistan

This molecular genetics study was conducted in Karachi, Pakistan from 2004 to 2006 to provide guidelines for prenatal diagnosis programmes in the country. Blood samples of patients with beta-thalassaemia minor (n = 200) and beta-thalassaemia major (n = 150) were collected from hospitals, transfusion centres and diagnostic laboratories from different districts of Karachi, representing 5 major ethnic groups. Molecular analysis revealed 11 genetic mutations of the beta-thalassaemia gene, among which 5 mutations accounted for 88% of the total beta-thalassaemia genes identified [IVS-1-5 (G–C), Fr 8/9 (+G), Fr 41/42 (–TTCT), IVS-1-1 (G–T) and Del 619].Other mutations identified were: CAP+1, IVS-II-1 (G–A), Cd 5 (–CT), Cd 15 (G–A), Cd 16 and Cd 30.