the aim of this study was to investigate the possible role of multiple inherited thrombophilic gene variations in women with unexplained spontaneous abortions. for this purpose, the factor v leiden (fvl) (rs6025), prothrombin g20210a (rs1799963), mthfr c677t (rs1801133), pai-1 4g/5g (rs1799889), ace i/d (rs1799752), enos e298d (rs1799983), and apo e e2/e3/e4 (rs429358) polymorphisms were genoty...

In 1954 Oeri et al. [1] described two young siblings with a lifelong history of a bleeding tendency related to a deficiency of both factor (F) V and FVIII. Reports of additional families in the late 1950s and 1960s [2–6] suggested that the common occurrence of FV and FVIII deficiencies was not a mere coincidence of parahemophilia and hemophilia A. This was further supported by the observation t...

Inherited combined factor V and factor VIII deficiency (F5F8D) is autosomal recessive transmission disorder. Epistaxis, postsurgical bleeding, and menorrhagia are the most common symptoms. The risk of miscarriage and placental abruption is consequent. We report a case of successful pregnancy in a patient with F5F8D. 20-year-old woman, born of consanguineous parents, third gestate, first parity,...

Patient and methods Family history The proband is a 5-year-old female who presented with microscopic hematuria and mild mucosal bleeding. Laboratory evaluation demonstrated a prolonged PT and a normal aPTT, and she was found to have 45% FV activity and 38% FVII activity. Her father has a history of delayed wound healing and mild mucosal bleeding. The father’s FV activity was high normal (151%),...

Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutation identified here (D81Y) and 2 previously reported mutations (D89A and D122V) abolish MCFD2 bind...

Combined factor V and factor VIII deficiency (F5F8D) is a rare, autosomal recessive congenital bleeding disorder with a prevalence of 1:1,000,000. Individuals present with a variable clinical bleeding phenotype, elevated prothrombin time (PT) and partial thromboplastin time (PTT), and plasma levels of factor V and VIII of 5–30%. Mutations in 2 proteins, LMAN1 and MCFD, required for concurrent t...

A Thai woman, with no family history of bleeding disorders, presented with excessive bleeding after minor trauma and tooth extraction. The screening coagulogram revealed prolonged activated partial thromboplastin time and prothrombin time. The specific-factor assay confirmed the diagnosis of combined factor V and factor VIII deficiency (F5F8D). Her plasma levels of factor V and factor VIII were...

Combined deficiency of factors V and VIII is an autosomal recessive bleeding disorder resulting from alterations in an unknown gene on chromosome 18q, distinct from the factor V and factor VIII genes. ERGIC-53, a component of the ER-Golgi intermediate compartment, was mapped to a YAC and BAC contig containing the critical region for the combined factors V and VIII deficiency gene. DNA sequence ...

1. It has been shown that factor V accelerates the rate of conversion of prothrombin into thrombin by activated factor X, and that this activity does not depend on the presence of phospholipid. 2. Although the mechanism by which factor V increases the rate of reaction is not clear, it seems unlikely that it is converted into an enzyme. 3. The rate of conversion of prothrombin by purified activa...

Adler, Howard I. (Oak Ridge National Laboratory, Oak Ridge, Tenn.), William D. Fisher, Alice A. Hardigree, and George E. Stapleton. Repair of radiation-induced damage to the cell division mechanism of Escherichia coli. J. Bacteriol. 91:737-742. 1966.-Microscopic observations of irradiated populations of filamentous Escherichia coli cells indicated that filaments can be induced to divide by a su...