Objective: To determine the frequency of prothrombin gene mutation in venous thromboembolism in our population.
Study Design: Cross sectional study.
Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology Rawalpindi, from Jun 2015 to Dec 2016.
Material and Methods: This cross sectional study was conducted in the Department of Haematology, Armed Forces Institute of Pathology Rawalpindi from Jun 2015 to Dec 2016. This study involved patients of both genders aged between 15-45 years who presented with one or more episodes of deep vein thrombosis or pulmonary
embolism. Outcome variable was frequency of prothrombin gene mutation which was assessed by PCR of genomic DNA.
Results: A total of 96 newly diagnosed patients of venous thromboembolism were analyzed. Out of these, 79 patients had deep vein thrombosis and 17 had pulmonary embolism. Prothrombin gene mutation was seen in 4 (4.2%) patients. The frequency of prothrombin gene mutation was significantly higher among patients with pulmonary embolism (p=0.002) and recurrent episodes (p=0.046).
Conclusion: The frequency of prothrombin gene mutation was found to be 4.2% in the present study. It was significantly higher in patients with pulmonary embolism and recurrent thrombosis.
Keywords : Deep vein thrombosis, Pulmonary embolism, Prothrombin gene mutation