1 SBIHE «Nord-Western State Medical University named after I.I. Mechnicov under the Ministry of Public Health and Social Affairs of Russian Federation», St.Petersburg, Russia
2 City Hospital № 26, St.Petersburg, Russia
3 City Clinical Hospital № 31, St.Petersburg, Russia
4 FSBI «Russian Research Institute of Hematology and Transfusiology of FMBA Russia», St.Petersburg, Russia
Brief summary
During pregnancy there are significant changes in the state of coagulation, which can lead to thrombotic and / or hemorrhagic complications. Clinical manifestations of pathology of the hemostatic system in the period of gestation is largely dependent on the characteristics of the blood coagulation system in the patient prior to pregnancy, genetic predisposition, response to hormonal changes and comorbidity. In order to identify possible correlations, we have compared the results of molecular genetic studies of women who attended the hematology care during pregnancy, with complaints suggestive of blood coagulation disorders, as well as with the results of platelet aggregation. The object of the study were 42 pregnant women aged 23 to 40 years, seek medical care in outpatient hematology center in the 2nd trimester of pregnancy. According to the results of genetic studies, all patients were divided into three groups: patients with a mutation in the gene for factor V (Arg506Gln), a patient with a mutation in the prothrombin gene (G20210A) and patients without these mutations. The study conclusions: 1. To identify possible violations of the blood coagulation system should not be used molecular genetic studies in isolation from the analysis of the clinical picture (the presence of thrombotic or hemorrhagic diathesis), the study results indicators platelet and plasma hemostasis . 2 . If the patient has a heterozygous mutation of factor V (Arg506Gln) or heterozygous prothrombin gene mutation (G20210A) does not preclude the implementation of the individual hemorrhagic phenotype due to the dominance of coagulopathic disorders of blood coagulation .
Key words
inherited thrombophilia, mutation of factor V (Arg506Gln), prothrombin gene mutation (G20210A), von Willebrand disease
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