One new case and 29 reported cases of hereditary prekallikrein (Fletcher factor) deficiency are reviewed. Abnormalities in the coagulation, fibrinolytic, complement, and kinin systems are described. These cases are discovered incidentally by prolonged partial thromboplastin times (PTTs) which correct with extended incubation in the presence of a contact activator. Prekallikrein levels are less ...

Inherited factor XIII (FXIII) deficiency is a rare bleeding disorder that can present with umbilical bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding and life-threatening intracranial haemorrhage. FXIII deficiency has also been associated with poor wound healing and recurrent miscarriages. FXIII plays an integral role in haemostasis by catalysing the cross-lin...

That factor XI has a role in normal blood coagulation is evidenced by the fact that patients with deficiency are prone to excessive bleeding after haemostatic challenge. The role of factor XI in physiological processes has become clearer since the discovery that it is activated by thrombin; this fact has contributed to a revised model of blood coagulation. Factor XI deficiency is particularly c...

Factor XII ia a single-chain beta-globulin serine protease with a molecular weight of 80,000 84,000 daltons and a plasma concentration of approximately 30 pg/mL. Proteolytic cleavage of factor XII is mediated by charged surfaces (glass, kaolin, cellite, dextran sulfate, endotoxin, urates, crude collagen, sulfatides), autoactivation, and kallikrein. Prekallikrein, factor XI, factor VII, plasmino...

we report a case of choroidal neovascularization (cnv) secondary to methylenetetrahydrofolate reductase (mthfr) gene mutation in a 20-year-old male patient with hypopituitarism. treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient’s vision and the appearance of the macula. a search ...

Hemophilia A is an X-linked recessive disorder caused by factor VIII deficiency, which is an important factor in the coagulation system. Here, we describe a 1-year-old boy with hemophilia A who developed West syndrome (WS). Recombinant factor VIII was administered during adrenocorticotropic hormone (ACTH) therapy to prevent intracranial hemorrhage. Infusion of factor VIII at fixed intervals is ...

Background: Data on the frequency of hereditary bleeding disorders (HBDs) and associated mortality and morbidities during a long-term follow-up from Iran are scarce. Objective: This study evaluated the epidemiologic features among patients with HBD in one of the largest referral centers in southern Iran. Methods: In this cross-secti...