Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
Cardiovascular diseases
Hematologic diseases
H01254 Congenital prothrombin deficiency
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
Coagulation defects
Congenital or constitutional haemorrhagic condition
3B14 Other inherited coagulation factor deficiency with bleeding tendency
H01254 Congenital prothrombin deficiency
