Abstract
Introduction: Thrombophiliais amulti-factorialhypercoagulability 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 (PCR-RFLP) 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 (p<0.05). Immobility status and cardiovascular disease were most significantly associated with age (p<0.0001).
Conclusion: Factor V Leiden and prothrombin 20210G>A mutations were not accountable for DVT in the Sudanese population examined in this study.