1. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, Van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994 2. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 38-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin le...

Venous intestinal ischemia is a relatively rare disease, which has some predisposing factor up to 80 % of cases. These factors may be temporary or permanent. Cancer, immobilization, trauma, intraabdominal infections, or oral contraceptives are temporary factors. Paroxysmal nocturnal hemoglobinuria and hypercoagulability states as factor V Leiden, G20210A mutation in prothrombin gene, C677T meth...

OBJECTIVE Individuals with elevated prothrombin, including those with the prothrombin G20210A mutation, have increased risk of venous thrombosis. Although these individuals do not have increased circulating prothrombotic biomarkers, their plasma demonstrates increased tissue factor-dependent thrombin generation in vitro. The objectives of this study were to determine the pathological role of el...

A 55-year-old, previously healthy woman, presented with frequent headaches. She had no neurological disturbances, but had a positive family history; her father died from stroke. Magnetic resonance imaging showed brain infarction; therefore detailed diagnostic evaluation of thrombophilia markers and genetic testing were performed. The patient was found to be homozy- gous for the C677T mutation o...

characterized by thrombus formation in the hepatic vein.1 Untreated, prognosis is generally poor. The main interventions are construction of an operative shunt and orthotopic liver transplantation.2 The prothrombin 20210 G to A mutation (G20210A) has been shown to cause spontaneous production of fibrin and an increased risk of thrombosis. This mutation may have caused cases of Budd-Chiari syndr...

Recent evidences associate thrombophilia with adverse pregnancy outcome. Numerous studies confirm Factor V Leiden (FVL) and Prothrombin G20210A (PT G20210A) mutations as important thrombophilia risk factors in Caucasians. However, these mutations are rare in Asians and thrombophilia investigations are therefore considered irrelevant in these patients. Hence, the status of thrombophilia-induced ...

Ischemic stroke is a heterogeneous multifactorial disease that is affected by several genetic mutations and environmental factors. Various polymorphisms and mutations have been described as risk factors for stroke and they include angiotensin-converting enzyme (ACE) genotype, factor V Leiden, prothrombin G20210A, methylene tetrahydrofolate reductase (MTHFR), human platelet antigen type 1, facto...