Background: One of the most common genetic causes associated with thrombophilia is mutation G20210A of the coagulation factor II (F2) gene.
Materials And Methods: Data collected from 355 unrelated Greeks examined for the mutation G20210A over a period of two decades were anonymously analyzed.
Results: The statistical analysis confirmed the importance of F2 G20210A in thrombosis and the significance of a positive family history of thrombosis. An interesting finding was the increased prevalence of G20210A in men with thrombotic events aged >40 years.
Conclusions: This study highlighted the great value of a positive family history of thrombosis and the importance of testing for this common mutation as a putative prevention strategy and a future biomarker for thrombophilia.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/978-3-030-78787-5_40 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
It is critical to recognize pulmonary embolism as soon as possible in patients who have gastrointestinal problems pre- and post-surgery. Even in the absence of conventional risk factors, the Factor V Leiden mutation emphasizes the importance of a thorough thrombophilia assessment. To effectively manage and prevent thrombotic episodes, prompt anticoagulant medication and genetic screening for family members are essential.
View Article and Find Full Text PDFExperience With Dabigatran on Rate of Portal Vein Thrombosis Recanalization, Disease Progression and Survival.
Aliment Pharmacol Ther
January 2025
Division of Gastroenterology and Hepatology, Department of Medicine, University of Pennsylvania, Philadelphia, USA.
Background And Aims: We assessed clinical, procoagulant and genetic risk factors and clinical outcomes in dabigatran-treated patients with non-tumoural acute and acute-on-chronic portal vein thrombosis (PVT).
Methods: Patients with a new diagnosis of non-tumoural acute and acute-on-chronic PVT between January 2021 and January 2024 (aged ≥ 18 years) in those without/with cirrhosis (Child-Pugh (CP)-A/B/C ≤ 10) were started on dabigatran and followed and compared with those on vitamin K antagonist (VKA) and untreated individuals.
Results: Dabigatran was prescribed in 119 patients with PVT type 1 (61, 51.
[Molecular Mechanism of Protein C Deficiency Caused by Mutations of Gene N355S, G392E, T314A].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, Suzhou 215006, Jiangsu Province, China.
Objective: To study the molecular mechanism of functional defect of protein C (PC) caused by point mutations of human protein C gene ( ) N355S , G392E and T314A.
Methods: The wild-type and mutant plasmids (PC, PC, PC, PC) of gene were constructed and transiently transfected into HEK293 cells. The expression of mutant proteins in vitro were tested.
Plasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.
J Pediatr Hematol Oncol
January 2025
Departments of Pediatric Hematology.
Congenital thrombotic thrombocytopenic purpura (cTTP), which is associated with mutations in the gene for a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 (ADAMTS13), is a chronic and lifelong disease. The clinical course is variable. Regularly using ADAMTS13-containing products such as fresh frozen plasma (FFP) for long-term prophylaxis is the most important treatment to prevent thrombotic microangiopathy (TMA) episodes.
View Article and Find Full Text PDFThe Association Between Janus Kinase 2 and Factor V Leiden Mutations and Thrombotic Complications in Patients With Myeloproliferative Disorders: A Study From Saudi Arabia.
Cureus
November 2024
Clinical Hematology, Khamis Mushait General Hospital, Khamis Mushait, SAU.
Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs). However, little is known about whether inherited thrombophilia represents an additive risk factor in mutated subjects. We addressed the association between combined mutations of JAK2 and factor V Leiden (FVL) and thrombotic complications in Saudi Arabian patients with MPDs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!