Conditions / Genetic
thrombophilia due to thrombin defect
info ยท Genetic
A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
Signs and symptoms
- Thromboembolism
- Recurrent thrombophlebitis
- Deep venous thrombosis
- Pulmonary embolism
- Cerebral venous thrombosis
Also known as: THPH1; prothrombin thrombophilia; prothrombin-related thrombophilia; thrombophilia due to factor 2 defect