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