Abstract
Prothrombin (F2) 20210G>A [rs1799963 G>A] mutation is a genetic variant which predisposes to inherited thrombophilia. Highest prevalence of this rare mutation has been reported among Caucasian and Mediterranean populations with thrombophilic conditions compared to healthy controls. It is absent or occurs in a very low frequency in both thrombophilic patients and healthy controls of most South Asian populations. A previous study has demonstrated that the mutant allele is absent among Sri Lankan healthy controls. This study was conducted to determine the prevalence of the F2 20210G>A mutation among Sri Lankan patients with thrombo-embolic disorders. F2 20210G>A mutation analysis was carried out on 825 patients. These included 374 with arterial thromboembolic disorders, 303 with venous thromboembolic disorders (VTE) and 148 with pregnancy related complications. Genotyping was done using polymerase chain reaction followed by restriction fragment length polymorphism. The overall prevalence of the individuals detected with the mutation was 0.8 % (7/825) with a mutant allele frequency of 0.4 % (7/1,650), and all were heterozygotes. Further classification according to the types of thrombotic events showed a prevalence of 0.5 % (2/374), 1.3 % (4/303), and 0.7 % (1/148) respectively, in the three groups with arterial thrombosis, VTE and pregnancy complications. The respective mutant allele frequencies in the three different groups were 0.3 % (2/748), 0.7 % (4/606) and 0.3 % (1/296). Although these figures are lower than that of Caucasian and Mediterranean populations, they are relatively higher compared to other South Asian populations. Therefore, the F2 20210G>A mutant allele is not entirely absent among Sri Lankan patients with thrombo-embolic disorders.