Frequency of factor V Leiden and prothrombin G20210A polymorphisms in the population of Marília-SP and relevance of screenings in medical specialties

• Grant number: 14/05008-2
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: August 01, 2014
• End date: November 30, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Wilson Baleotti Junior
• Grantee: Juliana Jaime de Souza
• Host Institution: Faculdade de Medicina de Marília (FAMEMA). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). Marília , SP, Brazil

Abstract

The factor V Leiden and prothrombin G20210A are genetic risk factors involved in venous thrombosis. The real utility of polymorphisms tests is questionable, since it is expensive and do not reduce the recurrence of VTE. These tests should be limited purpose and improper management of patients with factor V Leiden is concerning, since most patients will never suffer venous thromboembolism, and administrating anticoagulant therapy can cause adverse outcomes such as serious bleeding. A significant amount of analyzed samples at the Blood Center allows a frequency study of these polymorphisms, as well as an evaluation of the clinical relevance of the testing results for requesting medical specialty. Objective: To evaluate the relationship between the results of molecular tests for identifying polymorphisms with the results of coagulation tests and the clinical aspects of patients with suspected thrombophilia. Material and Method: A descriptive-analytical study of records of patients attended at the Hospital of the Faculty of Medicine of Marília and molecular tests for identification of polymorphisms for the diagnosis of hereditary thrombophilia. As a control group, a study of the frequency of polymorphisms factor V Leiden and prothrombin G20210A will be accomplished through DNA samples from 100 healthy volunteer blood donors. The genotyping will be performed by conventional Polymerase Chain Reaction (PCR) and the analysis will be by digestion with restriction enzymes. The results will be analyzed using the Fisher exact test using MedCalc software. (AU)