Prothrombin mutation

Prothrombin Mutation is a genetic alteration that increases the risk of developing abnormal blood clots in veins, a condition known as venous thromboembolism. This mutation is also referred to as Factor II Mutation or G20210A Mutation.

Overview

The Prothrombin gene provides instructions for producing a protein called prothrombin (or coagulation factor II). This protein is essential for the blood clotting process. The Prothrombin G20210A mutation involves a change in a single DNA building block (nucleotide) in the prothrombin gene. This mutation is associated with an increased production of prothrombin, leading to a higher risk of developing abnormal blood clots.

Genetics

The Prothrombin Mutation is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing abnormal blood clots. However, not everyone who inherits the mutation will develop this condition. Other genetic and environmental factors also contribute to the risk of developing venous thromboembolism.

Diagnosis

Diagnosis of the Prothrombin Mutation is typically made through a genetic test that identifies the presence of the G20210A mutation in the prothrombin gene. This test is often performed on individuals who have a personal or family history of abnormal blood clotting.

Treatment

Treatment for individuals with the Prothrombin Mutation typically involves measures to prevent the formation of abnormal blood clots. This may include the use of anticoagulant medications, lifestyle changes, and in some cases, surgical procedures.

See Also

• Venous Thromboembolism
• Genetic Testing
• Anticoagulant