The role of thrombophilia genes in the clinical implementation of arterial and venous thrombosis in newborns

O A Filippova,I V Vakhlova,N N Kuznetsov,T B Abolina,G A Tsaur

doi:10.1051/bioconf/20202202021

Abstract

The article considers the analysis results of the occurrence frequency of genotypes and alleles of plasma, platelet and fibrinolytic hemostasis in full-term newborns with arterial and venous thrombosis of various localization. Gene polymorphisms were studied by real-time PCR in human DNA samples obtained from buccal epithelium and venous blood lymphocytes. The control group was a group of healthy full-term newborns from families without a thrombophilic history. Predictors of arterial and venous thrombosis in children are such as polymorphism of the plasminogen activator inhibitor gene PAI-1-675 4G/4G (OR=5,6 [2,3-13,8]), combinations of polymorphisms PAI-1-675 4G/4G + factor VII G10976A G/G (OR=5,8 [1,7-19,1]), combinations of polymorphisms PAI-1 -675 4G/4G + factor VII G10976A G/G + factor XIII Val34Leu G/G (% AR=61), fibrinogen FGB -455 G/A (OR=3,75 [1,4-9,4]) and integrin alpha 2 ITGA2 807 T/T (OR=15,56 [1,9-126,7]). Thus, the study of polymorphisms of the plasminogen activator inhibitor, fibrinogen, integrin alpha 2 can serve as one of the criteria for identifying a high-risk group for the development of arterial and venous thrombosis in newborns and should be taken into account when evaluating individual thrombophilia risk.

Highlights

The observed increase in venous and arterial thrombosis in newborns is associated with advances and new technologies used in obstetrics and neonatology [1, 2]
Successes in studying such a fundamental component of endogenous risk of thrombotic “catastrophes” development as a genetic predisposition determine an important place in thrombosis pathogenesis of hereditary thrombophilia [11, 12, 13, 14, 15]
During clinical laboratory and instrumental imaging, arterial and venous thrombosis were detected in the children of the main group

Summary

Introduction

The observed increase in venous and arterial thrombosis in newborns is associated with advances and new technologies used in obstetrics and neonatology [1, 2]. The development of arterial and venous thrombosis in newborns has a multifactor cause and can be realized in both perinatal and late neonatal periods. Successes in studying such a fundamental component of endogenous risk of thrombotic “catastrophes” development as a genetic predisposition determine an important place in thrombosis pathogenesis of hereditary thrombophilia [11, 12, 13, 14, 15]. Meta-analyses indicate that thrombophilia is a risk factor for arterial and venous thrombosis [16, 17]

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