The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific ...

In his original description of a patient with parahemophilia and his studies on the nature of the defect, Owren (1) proposed that the missing factor, proaccelerin (Factor V), was converted, in the presence of calcium, into a prothrombinconverting substance ("prothrombinase," Factor VI) by the action of tissue thromboplastin. Other investigators, notably Ware and Seegers (2) in a series of studi...

In his original description of a patient with parahemophilia and his studies on the nature of the defect, Owren (1) proposed that the missing factor, proaccelerin (Factor V), was converted, in the presence of calcium, into a prothrombinconverting substance ("prothrombinase," Factor VI) by the action of tissue thromboplastin. Other investigators, notably Ware and Seegers (2) in a series of studi...

We report a rare complication of factor V deficiency in a patient having Legionella pneumonia. This patient also had other complications like severe acute respiratory distress syndrome, acute kidney injury, and septic shock that required venous-venous extracorporeal membrane oxygenation support. This is the first reported case of acquired factor V deficiency in a patient receiving extracorporea...

discussions as one ich patient whose pt and aptt suggest a coagulation disorder secondary to vitamin k deficiency or coagulation factor deficiency, unresponsiveness to vitamin k therapy should be useful to take fx deficiency into consideration. background inborn factor x deficiency (fxd) is a very rare (1: 500,000) hereditary coagulation disorder, which is characterized by clinical manifestatio...

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS patients and 92 PVT patients with 474 population-based controls. The relative risk of BCS was 11.3 ...

Twenty-six patients with hereditary factor VII deficiency (VII:C less than 10%) were evaluated using a panel of three thromboplastins of varying species and tissue origin in both coagulant and chromogenic assay systems. Normal values for the coagulation and chromogenic assays were 104% +/- 7% and 108% +/- 21%, respectively. Factor VII antigen was measured by a specific radioimmunoassay (normal,...

Acquired anti-Factor V deficiency caused by inhibitor production is a rare coagulation disorder. Although this is a well known entity in the literature, choice of optimal treatment for an individual patient is difficult, given that no standard therapeutic measures are available because of rare incidence and various underlying diseases occurring in the elderly. An 88 year-old man treated for Has...