|Title:||Molecular genetics of beta-thalassaemia syndrome in Pakistan|
|Abstract:||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|
|Appears in Collections:||EMRO Journal Articles (EMHJ)|
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