Aim: Hereditary thrombophilia is a condition where there is an increased tendency for clot formation due to a genetic variation in the coagulation system. Genetic testing in cases with a preliminary diagnosis of thrombophilia is necessary to confirm the diagnosis, eliminate other possibilities, and determine the risk of recurrent thromboembolism. The aim of this study is to examine the distribution of genetic variants that cause hereditary thrombophilia in and around İzmir.

Material and Methods: The results of 955 individuals who underwent thrombophilia variant analysis in our hospital between 2013 and 2021 were retrospectively reviewed. Blood samples were collected in 4 mL tubes containing of K3EDTA. Prothrombin G20210A, Factor V Leiden G1691A, Methylenetetrahydrofolate reductase C677T and A1298C, Plasminogen activator inhibitor-1 4G/5G, Beta Fibrinogen 455G>A, Factor XIII V34L and Glycoprotein IIIa L33P variants were investigated by pyrosequencing method using DNA isolation and polymerase chain reaction kits of Qiagen company.

Results: Of the 955 individuals sent to our laboratory for genetic testing, no variant was found in 5 people (%0.5). One or more variants were detected in 950 individuals (%99.5). A total of 3085 gene variants were identified. Of these variants, 825 (%26.7) were homozygous and 2260 (%73.3) were heterozygous. The most common variant was PAI-1 4G/5G with 931 (%30.2) cases.

Conclusion: In patients suspected of having hereditary thrombophilia, determining the most common variant distribution by region with genetic testing may reduce the number of genetic test types required for variant analysis. This way, the time to obtain test results and test cost can also be reduced.