Question

Leiden thrombophilia is caused by mutational deficiency of which of the following factors ?

• A. Factor V
• B. Factor VII
• C. Factor IX
• D. Factor X

Answer 1

The Correct Option is A

Leiden thrombophilia is a genetic condition that increases the risk of developing abnormal blood clots. It is caused by a mutation in the gene responsible for producing Factor V, a protein involved in the blood clotting process. This specific mutation is known as Factor V Leiden. The mutation makes Factor V resistant to inactivation, leading to an increased tendency for blood clot formation. Therefore, Leiden thrombophilia is directly associated with a mutational deficiency of Factor V.

Understanding the role of Factor V is crucial in grasping how this genetic defect affects blood coagulation:

1. Factor V is normally activated to Factor Va, which forms a complex with Factor Xa, leading to the conversion of prothrombin to thrombin.
2. Thrombin then facilitates the conversion of fibrinogen to fibrin, leading to clot formation.
3. In individuals with Factor V Leiden, activated Protein C, which normally inactivates Factor Va, has reduced activity. This resistance leads to a prolonged clotting process.