Because of the potential implications of results of genetic analyses of thrombophilic mutations, laboratories must undertake stringent internal quality control measures and participate in external quality assurance (QA) programs. A small number of external QA surveys of thrombophilic defects have been conducted across a large number of molecular laboratories and generally have indicated favorab...

BACKGROUND Stroke in young adults is a known but abnormal disease. Several recent studies have discussed the correlation between existence of coagulation factors such as V Leiden and prothrombin mutation (G20210A) as risk factors for incidence of stroke. The present study investigated the frequency of prothrombin gene mutation and its impact on incidence of ischemic stroke in Iranian youth. M...

METHODS AND RESULTS Forty eight consecutive patients with SLE were included (39 women, 9 men), 15 with and 33 without past thrombosis (Th and NTh group, respectively). Twenty thrombotic events were identified: 17 deep venous and 1 arterial thrombosis, 2 osteonecrosis. Both groups had comparable clinical, biological, therapeutic data, and mean (SD) SLE disease activity index (SLEDAI) (5 (4.6) v ...

background: inherited thrombophilic gene polymorphisms have been related to the pathogenesis of venous thromboembolism and its outcomes. considering the scarcity of data on the frequency of the thrombophilic gene polymorphisms in iranian populations, the aim of this study was to assess such polymorphisms in healthy individuals. materials and methods: this cross-sectional study was performed on ...

BACKGROUND AND OBJECTIVE To determine the prevalence of markers of inherited thrombophilia in patients with severe form of ovarian hyperstimulation syndrome (OHSS) DESIGN AND METHODS: Blood samples were analysed for markers of thrombophilia (mutation of factor V - Leiden, mutation of methylentetrahydrofolat reductase (MTHFR) C677T and mutation of prothrombin G20210A). The study group consisted ...

We have investigated the prevalence of the Factor II G20210A and Factor V G1691A single nucleotide polymorphisms (SNPs) in a South Indian-Tamil Nadu population. The SNP genotyping was performed using a polymerase chain reaction (PCR)/restriction fragment length polymorphism analysis and by a recently FDA-approved LightCycler real-time PCR assay. Of 72 samples that were genotyped, 4 (5.5%) patie...

The levels of antibodies to cardiolipin and β2-glycoprotein I and polymorphic variants G1691A of Factor V (factor V Leiden, FVL) and G20210A of prothrombin gene (G20210A) were studied in 16 patients with upper-extremity deep vein thrombosis (UEDVT). Most of patients with this syndrome have elevated values of these antibodies. Two of these patients are heterozygous carriers for G20210A and 1 - f...

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...