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

ABSTRACT

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. 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 [G1691 A]. 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]. These results concluded that FVL mutation has a high frequency and positive association with the occurrence of deep vein thrombosis among Egyptian cases