Venous thrombosis (VT) is a common disease, with an annual incidence in the general population of approximately 1 per 1000. The prevalence of genetic risk factors for thrombosis varies greatly in different parts of the world. Prothrombin G20210A (PT G20210A) gene mutation has been recently identified as a common risk factor in venous thrombosis. Sixty-one patients with VT, differing in age and sex, and 340 healthy subjects were consecutively enrolled into our study to determine the prevalence of PT G20210A in VT and in the healthy population of the southeast of Turkey. The mutation was identified with fluorescence resonance energy transfer (FRET) with the LightCycler polymerase chain reaction. The PT G20210A mutation was found to be 6.5% (4/61) in the VT group and 1.2% (4/340) in the healthy group ( P = 0.021). Three patients with VT had a heterozygous PT G20210A mutation, and the other patient with VT had both Factor V Leiden and PT G20210A mutations. We showed that this method may be used safely for detection of the PT G20210A gene mutation, and the prevalence of PT G20210A mutation is significantly higher in patients with VT than in the healthy population in the southeast of Turkey.
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http://dx.doi.org/10.1007/s00380-003-0760-6 | DOI Listing |
Haemophilia
December 2024
Institute of Experimental Hematology and Transfusion Medicine, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Introduction: Maintaining the balance between procoagulant and anticoagulant factors is essential for effective haemostasis. Emerging evidence suggests a modulation of bleeding tendency by factors in the anticoagulant and fibrinolytic systems.
Aim: This study investigates the clinical and laboratory characteristics of a family with combined von Willebrand disease (VWD) and antithrombin (AT) deficiency.
J Clin Med
November 2024
Thrombosis Hemostasis Laboratory, School of Medicine, The University of Jordan, Amman 11942, Jordan.
: This study aims to investigate the role of congenital single nucleotide thrombophilia in young females with early recurrent pregnancy loss (RPL). : We studied 120 pregnant females with RPL and 80 matched females as a control with no RPL. Females were aged ≤ 35 years, had at least two consecutive first-trimester RPLs, and the acquired cause of RPL was excluded.
View Article and Find Full Text PDFMed Sci (Basel)
November 2024
Dietetetics and Biomedical Department, School of Health Sciences Aegean College, 45 Tsimiski Str., 54623 Thessaloniki, Greece.
Background: Thrombophilia, characterized by an increased risk of thrombosis, can result from genetic polymorphisms in clotting factors. This study aims to investigate the prevalence of factor V Leiden (G1691A), factor II prothrombin (G20210A), and MTHFR (C677T and A1298C) polymorphisms in a Greek population, evaluating not only their association with thrombophilia, but also broader health implications.
Methods: We conducted a cross-sectional study involving one hundred apparently healthy adults from Thessaloniki, Greece.
Neurologist
November 2024
Hospitalist Program, Department of Family and Community Medicine, University Medical Centre, Texas Tech University Health Sciences Center, Lubbock, TX.
Introduction: Cerebral venous sinus thrombosis (CVST) is a rare, serious, and complex cerebrovascular disease. The prothrombin G20210A mutation is the second most common inherited thrombophilia and is considered to be one of the etiologies of CVST. The optimal heparinoid medication for treatment remains a topic of debate.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
November 2024
Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Medical Faculty, Ankara, Turkey.
Objective: Thrombophilia screening has been performed in patients with conditions such as previous fetal death, (fetal growth restriction) FGR, preeclampsia, (hemolysis. elevated liver enzyme, low platelet count) HELLP Syndrome, previous abruptio placentae, previous thrombosis in pregnancy, and abnormal placental histology. The actual role of hereditary thrombophilia in recurrent pregnancy loss (RPL) is still debated.
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