Re-evaluation of thrombophilia testing in clinical practice: Insights from an Indian cohort

Objectives: Thrombophilia is characterized by an abnormal tendency toward clot formation, either venous or arterial, which can be genetic or acquired. This disrupts the balance of coagulation, resulting in an increased likelihood of thrombotic events. Material and Methods: A retrospective cross-sectional study was done, which involved testing of 292 cases, referred for genetic testing for mutations in Factor V, Factor II (prothrombin gene), and Methylenetetrahydrofolate reductase (MTHFR) genes in suspected cases of thrombosis. Blood DNA samples were utilized using the Thrombophilia reverse transcription -polymerase chain reaction kit, over a period of 3 years in a tertiary healthcare hospital. Results: Out of a total of 126 positive patients, MTHFR mutations showed a high detection rate of 71%, followed by Factor V (8.73%) and prothrombin factor (0.8%). The A1298C variant was more common (76; 66.6%) than the C677T variant (22; 19.2%), with both mutations present (16; 14%). Majority of the clinical events were venous (93; 74%) in nature, arterial (28; 22%) or both (3; 2.3%). Conclusion: The frequency of MTHFR mutations in thrombophilia patients is found to be high among the Indian population. Routine screening might help define the relative risk in patients with thrombosis with anti-coagulant therapy.