Year: 2025
Type: article
Abstract: Thrombophilia is a heterogeneous group of inherited and acquired diseases and syndromes characterized by increased blood clotting and a high risk of thromboembolic complications. Thrombophilia is not a disease in the generally accepted sense, since it has no clinical manifestations until the first thrombosis, which complicates its diagnosis. At the same time, thromboses make a significant contribution to the overall morbidity and mortality in children of all age groups. Currently, many genetic polymorphisms have been identified that increase the predisposition to thrombosis, including mutations of factor V (Leiden mutation) and prothrombin, as well as polymorphisms of the genes of the blood coagulation system and folate cycle. Risk factors for the development of thrombotic complications also include deficiency of proteins C and S and lack of antithrombin III. Newborns from mothers with hereditary thrombophilia have a significantly increased risk of fetal hypoxia and various pathological conditions and diseases. The presence and combination of various genetic markers of thrombophilia leads to the development of a hypercoagulable state, which increases the risk of thrombohemorrhagic complications. Diagnosis of thrombophilia includes, first of all, the determination of thrombogenic risk factors: permanent (genetic and/or clinical) and temporary (clinical and/or laboratory). The article presents the main genetic markers of thrombophilia, the mechanisms of its development and diagnostic methods.
Source: CHILDREN INFECTIONS
Authors: A. Ya. Ilyina, E. A. Sarkisyan, A. A. Komarova, A. S. Rogova, D. M. Muscherova, K. S. Zizyukina, A. A. Martynov, E. A. Akhalova, I. V. Solovyova, P. V. Shumilov
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414530413