What is the clinical evidence from this study?

Study design: Cross-Sectional. Population: Suspected thrombosis (n=292). Intervention: Thrombophilia mutation panel testing (Factor V, Factor II, MTHFR). Primary outcome: Detection rate of thrombophilia gene mutations.

What question did this study set out to answer?

The study aims to evaluate the prevalence of thrombophilia-related genetic mutations among patients in India.

April 27, 2026Open Access

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

Key Result

MTHFR mutations were the most frequently detected genetic abnormality, found in 71.7% of tested patients with suspected thrombosis in an Indian cohort.

Key Points

The study aims to evaluate the prevalence of thrombophilia-related genetic mutations among patients in India.
Retrospective cross-sectional study with 292 cases referred for genetic testing.
Testing for mutations in Factor V, Factor II, and MTHFR using DNA samples.
Conducted over a period of 3 years in a tertiary healthcare setting.
Of 126 positive patients, MTHFR mutations had a detection rate of 71%.
Factor V mutations detected in 8.73%, prothrombin factor mutations in 0.8%.
Majority of thrombotic events were venous (74%), with arterial events being 22%.

Study Design

Type

Cross-Sectional (n=292)

Multicenter

Structured PICO

Population

292 adults (above 18 years of age) with clinical suspicion of thrombosis referred for genetic testing for thrombophilia mutations (Factor V, Factor II, MTHFR) at a tertiary hospital in India.

Intervention

Thrombophilia mutation panel testing using RT-PCR for Factor V, Factor II, and MTHFR genes.

Outcome

Detection rate of Factor V, Factor II, and MTHFR mutations and their association with clinical thrombotic events (venous vs. arterial).

MTHFR mutations are highly prevalent in Indian patients with suspected thrombosis and are strongly associated with venous thromboembolism, suggesting a potential role for routine MTHFR screening in this population.

Limitations

Lack of availability of family history
Lack of smoking history
Lack of history of APLA syndrome
Lack of biochemical parameters such as homocysteine levels
Lack of awareness of the genetic association of thrombophilia

Abstract

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.

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