Congenital factor XIII deficiency

A new disease profile is added to our database – Congenital factor XIII deficiency. Hereditary factor XIII deficiency is a rare bleeding disorder mostly due to mutations in FXIII A subunit. Seven novel mutations were identified in the FXIIIA gene. Factor XIII (FXIII) is a plasma transglutaminase circulating in blood as a heterotetramer and consisting of two catalytic A subunits and two non-catalytic B subunits. It is a proenzyme activated by thrombin in the blood coagulation cascade. Coagulation factor XIII is a transglutaminase that catalyzes crosslink formation in fibrin clots. Although originally described as the final enzyme in the clotting cascade, FXIII is now recognised to play a role throughout the clotting process. FXIII plays an important role(s) in hemostasis, wound healing and maintenance of pregnancy. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics – Dr. Iliana Pacheva, MD.