POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN

Abstract

The article is devoted to the prevalence of polymorphism of genes responsible for thrombophilia among children. The study included 52 children with thrombosis and 59 children without thrombosis. Detects mutations factor V Leiden, G20210A prothrombin gene, the C677T mutation in the gene for 5,10-methylenetetrahydrofolate reductase and 4G/5G polymorphism of gene plasminogen activator inhibitor 1. Mutations thrombophilia markers are detected in 38 of 52 (73 %) children with thrombosis, and 36 of 59 (61 %) children without thrombosis (p=0,1). A combination of several mutations in genes had 38 of 69 (55 %) children having different polymorphisms. The highest percentage (86 %) of different combinations of mutations have children with venous thrombosis, wherein the presence of mutations in Factor V (Leiden) mutation and prothrombin gene was isolated, and in all cases with each other or combined with mutation of the MTHFR gene. The most significant in the development of thrombosis are the G20210A mutation in the prothrombin gene mutation and Leiden. An example of clinical thrombosis, the girl with the data mutations.

Keywords

• thrombosis
• hereditary thrombophilia
• children