Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Pakistani population

Abstract

We concluded that 563C-T was the commonest G6PD variant, while 1003A-G and 131C-G were less-frequent genetic variants of G6PD in Pakistani population. A novel genetic variant 973G-A was also identified. Very low levels of G6PD enzyme activity was seen with G6PD 563C-T. Mutational analysis failed in a significant proportion of samples warranting further work.