Case-Control Study of Factor V Leiden and Prothrombin G20210A Mutations as Thrombophilia Risk Factors in Young Algerians (<45) Using LightCycler PCR.

Abstract Introduction. Thrombophilia is a hereditary disorder caused by mutations affecting the coagulation system. Several genetic mutations are linked to thrombophilia, including factor V Leiden (G1691A) and prothrombin G20210A mutations. Genetic testing plays a crucial role in assessing risk factors and guiding the clinical management of individuals predisposed to hereditary thrombophilia. Materials and Methods. This study included 200 young Algerian participants under 45, comprising 86 patients with venous thromboembolism and 114 healthy controls. All subjects (cases and controls) who had identifiable risk factors for provoked thrombosis were excluded from this study. Factor V Leiden and prothrombin G20210A mutations were detected by LightCycler PCR. Results. Factor V Leiden mutation was more frequent (19.8%) than the prothrombin G20210A mutation (2.3%). The result demonstrate a significant positive relationship between factor V Leiden and the occurence of venous thromboembolim (p=0.001). The prothrombin G20210A mutation was no significantly associated with venous thromboembolism (p > 0.05). Conclusion. Factor V Leiden was more prevalent among patients with VTE compared to controls, highlighting its role as a significant genetic risk factor for hereditary thrombophilia. Keywords: Factor V Lieden, Prothrombin G20210A, Venous Thrombembolism, Hereditary Thrombophilia