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Updated: Apr 11, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

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Published on: April 1, 2019

Classic thrombophilic gene variants.

Pier Mannuccio Mannucci¹, Massimo Franchini

¹Pier Mannuccio Mannucci, Scientific Direction, IRCCS Ca' Granda Maggiore Policlinico Hospital Foundation, Milan, Italy,

Thrombosis and Haemostasis

|May 29, 2015

Summary

Thrombophilia, a hypercoagulable state leading to venous thromboembolism (VTE), is influenced by inherited factors. Key genetic determinants include mutations in anticoagulant proteins and specific gene polymorphisms, alongside non-O blood groups.

Keywords:

ABO blood group Inherited thrombophilia factor V Leiden natural anticoagulants prothrombin mutation

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Area of Science:

Hematology
Genetics
Vascular Medicine

Background:

Thrombophilia is a hypercoagulable state predisposing to venous thromboembolism (VTE).
Advances in understanding VTE pathogenesis reveal both acquired and inherited factors contribute to thrombophilic states.
Inherited thrombophilia significantly increases the risk of VTE development.

Purpose of the Study:

To review the pathogenesis of VTE.
To discuss the role of inherited thrombophilia markers in VTE.
To elucidate the mechanism of inherited thrombophilia markers.

Main Methods:

This is a narrative review.
Literature search on thrombophilia and VTE.
Discussion of genetic and non-genetic inherited risk factors.

Main Results:

Inherited thrombophilia is determined by genetic factors such as loss-of-function mutations in protein C, protein S, and antithrombin genes.
Gain-of-function polymorphisms, including Factor V Leiden and prothrombin G20210A, are common genetic determinants.
Non-O blood groups are frequently identified as inherited markers associated with increased VTE risk.

Conclusions:

Inherited thrombophilia encompasses genetic mutations and polymorphisms affecting coagulation.
Non-O blood groups represent a common inherited risk factor for VTE.
Understanding these inherited markers is crucial for VTE risk assessment and management.