Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency.
Category
Hematologic disease
Brite
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
3B15 Inherited coagulation factor deficiency without bleeding tendency
H00941 Factor XII deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H00941 Factor XII deficiency
