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The maintenance of normal blood flow through the vessels is the result of the coordinated work of the coagulation and anticoagulation systems of our body. The balance of this system depends on many factors, including endothelial, humoral, platelet ones, however, we still lack knowledge about the effect of antigenic determinants on the state of the hemostatic system. This study is devoted to assessing the effect of the presence and absence of antigens on the AB0 system, presented on erythrocyte and platelet membranes, on hemostatic parameters. The study was conducted in the Clinics of Samara State Medical University and consisted of127 clinically healthy individuals who underwent a general analysis and biochemical blood analysis, 52 people with the most stable indicators of cell composition and metabolic profile were selected for a coagulation test, including determination of the activity of coagulation factors and routine tests. A significant decrease in the activity of the VIII and VII coagulation factors was revealed, as well as an increase in the prothrombin time in patients with 0 (I) blood group compared to the “antigenic” blood groups. The presence of biological variation for indicators of external and internal coagulation paths was noted, depending on the group of blood belonging to the AB0 system. The findings suggest that there is an increased susceptibility to bleeding in patients with 0 (I) blood groups due to the absence of antigenic determinants on the cell membrane, while for “antigenic” blood groups, on the contrary, there is a susceptibility to thrombosis due to increased activity of the components of the coagulation system.
The maintenance of normal blood flow through the vessels is the result of the coordinated work of the coagulation and anticoagulation systems of our body. The balance of this system depends on many factors, including endothelial, humoral, platelet ones, however, we still lack knowledge about the effect of antigenic determinants on the state of the hemostatic system. This study is devoted to assessing the effect of the presence and absence of antigens on the AB0 system, presented on erythrocyte and platelet membranes, on hemostatic parameters. The study was conducted in the Clinics of Samara State Medical University and consisted of127 clinically healthy individuals who underwent a general analysis and biochemical blood analysis, 52 people with the most stable indicators of cell composition and metabolic profile were selected for a coagulation test, including determination of the activity of coagulation factors and routine tests. A significant decrease in the activity of the VIII and VII coagulation factors was revealed, as well as an increase in the prothrombin time in patients with 0 (I) blood group compared to the “antigenic” blood groups. The presence of biological variation for indicators of external and internal coagulation paths was noted, depending on the group of blood belonging to the AB0 system. The findings suggest that there is an increased susceptibility to bleeding in patients with 0 (I) blood groups due to the absence of antigenic determinants on the cell membrane, while for “antigenic” blood groups, on the contrary, there is a susceptibility to thrombosis due to increased activity of the components of the coagulation system.
Classical homocystinuria is caused by a genetic mutation in the CBS gene, which leads to low levels or absence of an enzyme called cystathionine beta-synthase.The purpose of the study was to analyze the clinical features and molecular and genetic data of patients with classical homocystinuria in Belarus.The study group included patients with classical homocystinuria and their healthy siblings (3 probands and 2 siblings) from three unrelated families. Diagnosis of homocystinuria was made on a quantitative determination of the total homocysteine level in plasma. The next-generation sequencing was performed for the molecular genetic analysis of the CBS gene. The presence of the identified variants in probands and their siblings was confirmed by the Sanger sequencing.All probands had specific clinical signs of classic homocystinuria: ectopia lentis, skeletal pathology, intellectual, psychiatric, behavioural problems and seizures (in 2 of 3 probands).Homozygous missense-mutations c.430G>C (p.Glu144Gln, rs121964966), c.473C>T p.(Ala158Val, rs1376851289) and 1064C>T p.(Ala355Val, rs772384826) were identified in proband 1, 2 and 3 respectively. Healthy siblings of probands 1 and 3 were the heterozygous carriers of the corresponding mutations.Classical homocystinuria is a very rare disease in the Republic of Belarus. All cases of the disease in Belarus are caused by very rare mutations not registered in the neighboring countries and are the result of marriages between the relatives or the natives of the same area. We have described for the first time the phenotypic manifestations of the p.Glu144Gln and p.Ala355Val mutations, expanded the description of the spectrum of clinical manifestations of the Ala158Val substitution, and assessed the clinical significance of the identified variants in accordance with the modern criteria.
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