Rare bleeding disorders (RBDs), including factor (F) I, FII, FV, FVII, combined FV and FVIII
(CF5F8), FXI, FXIII and vitamin-K dependent coagulation factors (VKCF) deficiencies, are a …

Congenital factor V (FV) deficiency is a bleeding disorder associated with mild to severe
hemorrhagic symptoms and a prevalence in the general population of 1 in 1,000,000 in the …

The article discusses the guidelines of the United Kingdom Haemophilia Centre Doctors'
Organization (UKHCDO) related to the diagnosis and management of patients with rare …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Textbook of hemophilia Textbook of Hemophilia Page 2 Textbook of Hemophilia Edited by
Christine A. Lee MA, MD, DSc (Med), FRCP, FRCPath Professor of Haemophilia Director and …

Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in
prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent …

Combined deficiency of factor V (FV) and FVIII (F5F8D) is an autosomal recessive bleeding
disorder characterized by simultaneous decreases of both coagulation factors. This review …

The clotting factor V, also known as proaccelerin or labile factor, is synthesized by the liver
and possibly by the megakaryocytes. Factor V exerts a pivotal role in hemostasis, as it …

Multiple diseases, hematologic and nonhematologic, result from defects in the early
secretory pathway. Congenital dyserythropoietic anemia type II (CDAII) and combined …

Mutations in lectin, mannose-binding 1 (LMAN1) and multiple coagulation factor deficiency
protein 2 (MCFD2) cause the combined deficiency of factor V (FV) and FVIII (F5F8D) …