DETECTION OF FACTOR V LEIDEN AND PROTHROMBIN G20210A IN PATIENTS WITH THROMBOSIS.

PRATTI, ARIANNA FLAVIA; WILLIAMS, GLADIS MARCELA; MARONI, GEORGINA; CARBONELL, MAGDALENA; OJEDA MARA

Rosario

Congreso; XXII CONGRESO y XL REUNIÓN ANUAL DE LA SOCIEDAD DE BIOLOGÍA DE ROSARIO; 2021

SOCIEDAD DE BIOLOGÍA DE ROSARIO

Thrombosis is a multifactorial disease, resulting from the interaction of acquired and inherited factors. Among thelatter, two polymorphisms have been implicated more frequently, factor V Leiden (FVL) mutation and prothrombingene (PT) G20210A mutation. The aim of this study was to evaluate the prevalence of these polymorphisms in patientswith arterial and venous thrombosis, as well as patients with obstetric pathology who attended our service. GenomicDNA was obtained from peripheral blood samples of 134 patients with venous thrombosis (55), ischemic stroke (19),and obstetric patholoies such as recurrent miscarriages, preeclampsia, and placental thrombosis (60). Detection of FVLand prothrombin G20210A mutations was performed by polymerase chain reaction?restriction fragment lengthpolymorphism (PCR?RFLP) method. FVL was found in a heterozygous state in 10 patients (7.5%), while PT 20210was found in a heterozygous state in 8 of the studied patients (6%). Among the patients with obstetric pathology, theprevalence was 3.3% for FVL and 5% for PT 20210; among patients with venous thrombosis, the prevalence of thesemutations was 10.9% for FVL and 7.3% for PT20210. Meanwhile, in patients with ischemic stroke, the prevalence was10.5% and 5.3% respectively. We conclude that despite the low number of patients studied, we found an increase inthe prevalence of these polymorphisms, especially in patients with thromboembolic disease, compared with thepublished prevalence for the general population of our country. (1.5?3% for FVL and 2% for PT 20210). This isconsistent with other published studies that have evidenced an association between these genetic defects and venousthromboembolism