Abstract
Introduction: Thrombosis, a major cause of morbidity and mortality, is influenced by various factors. Among them, genetic risk factors play a significant role, including mutations in factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T.
Objectives: This study aimed to examine the frequency, coexistence, and impact on thrombotic risk of these mutations in a population that had experienced a thrombotic event.
Materials and Methods: This was a retrospective analytical study conducted in the hematology laboratory of a university hospital over a period of one and a half years. Genotyping of the mutations was performed using real-time polymerase chain reaction. Data analysis was conducted using IBM Statistics version 26.
Results: Among the 50 patients studied, 18% carried the factor V Leiden mutation, which was significantly associated with deep vein thrombosis (p=0.004). The prothrombin G20210A mutation was detected in 6% of patients, mainly in those with deep vein thrombosis. The methylenetetrahydrofolate reductase C677T mutation was present in 60% of patients, without a significant association with a particular type of thrombosis. The coexistence of all three mutations was observed in 2% of patients.
Conclusion: This study highlights the importance of genetic factors in thrombosis. A better understanding of these mutations could improve the management and prevention of thrombotic events in at-risk patients.
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