Features of hereditary thrombosis (analysis of clinical cases in newborns)

Background. Dysfunctions of hemostasis include conditions occurring both with hemorrhagic syndrome and in the form of thrombosis, the number of which is growing due to the intensification of the therapy. The relevance of the topic is determined by the prevalence of these pathological conditions in newborns, the peculiarities of the hemostasis system in the neonatal period, as well as the difficulties of diagnosis and interpretation of laboratory parameters.

Aim. Studying the features of clinical manifestations and genetic markers in newborns with clinical thrombosis on the background of primary thrombophilia.

Materials and methods. A retrospective continuous analysis of the case histories of newborn children with thrombophilia who were hospitalized at the Krasnoyarsk Regional Clinical Center for Maternity and Childhood Protection in the period from January 2014 to January 2020 was carried out.

Results. The debut of thrombosis in newborns is represented mainly by venous thrombosis of various localizations. Genetic mutations were identified in these patients, which are mainly associated with the work of the folate and methionine cycles (MTHFR: g.677C>T, MTHFR: g.1298A>C, MTRR: g.66A>G and MTR: g.2756A>G). A complicated course was noted in the presence in the genome of the combinations MTHFR: g.677C>T, MTR: g.2756A>G and MTRR: g.66A>G and/or homozygous carriage of MTHFR: g.677C>T, MTHFR: g.1298A>C. The main trigger was peripheral vascular catheterization.

Conclusion. A decrease in the levels of natural anticoagulants in newborns with some physiological features of hemostasis deserves close attention of neonatologists and clinicians, requires an integral assessment of the hemostasis system and additional examinations, including the analysis of genetic changes not only in the hemostasis system, but also in folate and methionine cycles.