Prothrombin Gene Mutation and Coagulation Profile as Indicators of Deep Vein Thrombosis Among Patients with Thromboembolism, Khartoum state

Abstract

Venous thromboembolism (VTE) is a disease that includes deep vein thrombosis (DVT) and pulmonary embolism (PE).There are many genetic and acquired risk factors that are known to cause venous thromboembolic disorders (VTE). One of these is Prothrombin 20210G>A gene mutations are the second most frequent hereditary cause of venous thrombosis in Caucasian and less frequency in African. The aim of this study was to detect the frequency of prothrombin 20210G>A gene mutations among Sudanese venous thromboembolism (VTE) patients. This was case control study in which a total of 80 Sudanese subjects were enrolled in the period between January and November. Among them, 40 apparently healthy Sudanese individuals as controls and 40 patients (20 males and 20 females), age range 20-77 with documented VTE confirmed by Duplex Doppler ultrasound were included. Results in this study, the mean age of case study group was 38.2, age range of 20-77, mean age of control group was 30.8, age range of 20-52. The variable frequencies of case group under study included: post-operative disease (POD) 30%, hypertension (HTN) 2.5%, pregnancy 35%, diabetes mellitus (DM) 7.5%, contraceptive pills 35%.The prevalence of prothrombin 20210G>A gene mutation among case group was 2 patients (5%) were positive for mutant prothrombin gene (G20210A) and 38 patients (95%) were negative for the prothrombin gene (G20210A) mutation, while there were no positivity for mutation among control group . Was concluded the prothrombin 20210G>A gene mutation are not associated with VTE in Sudanese patients (p- value 0.152).