Association of factor V Leiden mutation with deep vein thrombosis among Egyptian cases

Background: Deep vein thrombosis (DVT) is a blood clot in a major vein, usually in the legs and/or pelvis. If part of the thrombus breaks off, it becomes an embolism, which can travel through the heart and block the arteries to the lungs. Factor V Leiden (FVL) is a common genetic risk factor for hereditary hypercoagulability disorder in several populations. The present study investigates the association of FVL mutation with DVT among Egyptian cases. Patients & methods: The study included 44 cases (16 males and 28 females) with an age range of 20 to 80 years in addition to 211 healthy unrelated controls of matched age and sex. A multiplex allele-specific PCR amplification was conducted for assignment of FVL gene mutation (G1691A). Results: Cases having the mutant allele A (AA and AG genotypes) were significantly higher than controls (38.6% vs. 18.5%; P < 0.05, OR= 2.78 and CI 95%, 1.380-5.589). Conclusion: These results concluded that FVL mutation has a high frequency and positive association with the occurrence of deep vein thrombosis among Egyptian cases