background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...

BACKGROUND AND OBJECTIVES Factor V (FV) deficiency is a rare bleeding disorder whose molecular bases are poorly characterized. We have recently described a FV missense mutation (Y1702C) predicting reduced FV levels in a thrombophilic patient and in a healthy individual. The aim of the present work was to assess the prevalence of the FV Y1702C mutation among subjects with FV deficiency. DESIGN...

Congenital factor V deficiency was first described by Owren in 1947.(1) It is thought to be transmitted by an autosomal recessive gene (q23-24)(2) found in 1 out of every 1 million population and usually with no gender or race correlation.(3) To date, ~150 cases have been reported in the world literature.(3) The description of rare case of this disease is justified, because they may add further...

Factor XI deficiency, an injury-related bleeding disorder, is rare worldwide but common in Jews in whom 2 mutations, Glu117Stop (type II) and Phe283Leu (type III), prevail. Mean factor XI activities in homozygotes for Glu117Stop and for Phe283Leu are 1 and 10 U/dL, respectively. Inhibitors to factor XI in patients with severe factor XI deficiency have been reported in a small number of instance...

The importance of non-prothrombin plasma and serum constituents in the physiological conversion of prothrombin to thrombin has been recognized only recently. A hemorrhagic disorder, called "parahemophilia" (Owren's disease), is associated with an elevated prothrombin time attributable to deficiency of a plasma component termed "Factor V" (1, 2). Inadequacy of plasma Ac-globulin, required for ra...

A family is described in which HageImmunologic studies suggested that man trait appeared to be inherited in the molecular defect was similar to an autosomal dominant manner in that of the autosomal recessive form contrast to previously reported families and consisted of deficiency of antiin which the disorder behaves as an gens related to Hageman factor. autosomel recessive characteristic. H AG...