Abstract

Introduction. Thrombosis in children and adults is believed to be always multifactorial and caused by a combination of permanent and temporary thrombogenic risk factors. Carriage of hereditary or life-long thrombogenic risk factors accompanying a person, causing a tendency to occur arterial and venous thrombosis is a critical problem, but little studied in paediatrics. Materials and methods. A genetic study of twelve prothrombotic polymorphic variants of candidate genes was carried out at the Health Centre. Three hundred 96 children were examined; 177 (43.3%) were boys, and 219 (56.7%) were girls. The average age of the patients was 15.6 ± 1.8 years. The main group of children with thrombogenic risk factors consisted of 27 cases, including ten boys and 17 girls. The comparison group consisted of 396 adolescents, including 167 boys and 202 girls. Results. The study of genetic polymorphisms of the genes of blood clotting factors and genes of folate metabolism in the work of the Health Centre revealed the prevalence of the A2756G allele of the MTR gene (p = 0.032) and the C1565 allele of the ITGB3 gene (p = 0.012) in the population of girls to be statistically significantly higher than in boys. The proportion of the 4G allele (-675) of the PAI-1 gene (p = 0.028) was also determined to be significantly more often detected in boys, while the proportion of the 5G allele of the PAI-1 gene (p = 0.032) was found with a higher frequency in girls. The distribution of allele and genotype frequencies in the studied genes of blood coagulation factors and folate metabolism were checked for compliance with the Hardy-Weinberg equilibrium. The group of children with thrombogenic risk factors included 27 patients. In children of this group, in 64.3% of cases, a mutation of the GA genotype of the factor V Leiden gene was detected, and 37.5% of children were with compounds from the homozygous TT allele of the C677T MTHFR genotype and the homozygous AA allele of the G(-455)A genotype of the fibrinogen FBG gene. Conclusion. With the introduction of personalized prophylaxis in the thrombogenic risk group based on the children’s health centre, thrombogenic complications can be successfully prevented.

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