Title:
Genetic Factors in Thrombophilia: A Review of Their Role

Authors:
Anđela Trnčić, Bosnia and Herzegovina

Abstract:

Thrombophilia is a susceptibility to thrombosis caused by hereditary or acquired abnormalities of the coagulation system. Regarding the inherited causes of it, various genetic mutations have been linked to an increased risk of venous thromboembolism. This review aims to highlight existing research on the key genetic factors associated with hereditary thrombophilia and their clinical implications. A literature search was carried out using databases such as PubMed and Google Scholar, with a focus on research published between 1996 and 2024 that focused on genetic mutations related to thrombophilia. The most prevalent genetic risk factors are Factor V Leiden and the prothrombin G20210A mutation. Other polymorphisms, like PAI-1 and MTHFR mutations, are still debatable and need additional research, while deficits in natural anticoagulants like antithrombin, protein C, and protein S are rare but clinically significant. Understanding the relationship of thrombophilia and other clinical risk factors is critical for proper risk assessment and therapy of individuals with coagulation disorders.

DOI: http://dx.doi.org/10.51505/ijmshr.2026.10308