Detección de las Mutaciones Factor V Leiden y Protrombina G20210A en Pacientes con Trombosis Venosa

Authors

  • Mauricio Venegas S. Hospital Clínico Universidad de Chile. Sección de Gastroenterología
  • Guillermo Conte L. Hospital Clinico Universidad de Chile. Sección Hematología
  • Marianela Cuneo V. Hospital Clinico Universidad de Chile. Sección Hematología

Abstract

Venous thromboembolism is a pathological condition of multifactorial origin, including acquired and genetic causes. The point mutations factor V Leiden and Prothrombin G20210A are the most frequent etiologies of hereditary thrombosis. To diagnose these genetic defects in patients with venous thrombosis, the molecular biological technique of polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) is used. In this study, 565 exams for the detection of factor V Leiden were carried out from February, 2001 through December, 2005, finding a prevalence of 6.19% (35 patients). This rate contradicts some studies and agrees with others. In the same period, 557 exams for the detection of prothrombin G20210A were performed, finding a prevalence of 6.1% (34 patients), a very similar value to the prevalence reported in the majority of the published clinical series.

Keywords:

Factor V, Protrombina, Trombosis de la Vena/fisiopatología