Evaluation of Genetic and Environmental Risk Factors for Deep Vein Thrombosis in Sudanese

Abstract

Introduction: Thrombophilia is a multi-factorial hypercoagulability disorder. The predisposing factors may be inherited, acquired or both. Factor V Leiden prothrombin 20210G>A mutations are the most common inherited factors. Aim: This study was aimed to investigate the prevalence of Factor V Leiden (1691G>A) and prothrombin 20210G>A mutations in Deep Vein Thrombosis (DVT) patients and to investigate the role of non-genetic risk factors in the manifestation of DVT. Materials and Methods: A total of 192 Sudanese subjects were examined, including 100 DVT patients and 92 healthy controls. Demographic and clinical data were collected using a specific questionnaire. Citrated blood samples of patients and controls were used for coagulation assays, and DNAs isolated from Ethylenediaminetetraacetic Acid (EDTA)-blood samples were used for the detection of Factor V Leiden and prothrombin 20210G>A mutations using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCRRFLP) analysis. Results: Out of all the subjects, none of the 192 subjects carried the Factor V Leiden or prothrombin 20210G>A mutations. No significant differences were detected in the prevalence of DVT between males and females. The prothrombin fragment 1+2, Prothrombin Time (PT), Activated Partial Thromboplastin Time (APTT), and D-dimer levels were significantly elevated in DVT patients than in healthy controls (pA mutations were not accountable for DVT in the Sudanese population examined in this study.

Keywords

• factor v (g1691a)
• polymerase chain reaction-restriction fragment length polymorphism
• prothrombin (g20210a)