FREQUENCY OF OCCURRENCE AND LABORATORY FEATURES OF RARE COAGULOPATHIES. REPUBLICAN SPECIALIZED SCIENTIFIC AND PRACTICAL MEDICAL CENTER OF HEMATOLOGY OF THE MINISTRY OF HEALTH OF THE REPUBLIC OF UZBEKISTAN

Blood clotting is a process that converts normal liquid blood into a clot that closes the damaged vessel and prevents bleeding. The external and internal pathway of thrombus formation proceeds with the participation of coagulation factors. This process involves the formation of fibrin, a protein that forms the basis of a blood clot. Fibrin as a scaffold gives the thrombus strength. With coagulopathy, due to a lack of coagulation factors, fibrin formation does not occur. Without fibrin, a thrombus is not able to reliably anchor at the site of injury. Uncontrolled bleeding occurs, which can lead to death. The purpose of this review was to assess the frequency, clinical presentation, genetic basis, possibilities and difficulties in diagnosing these deficiencies. Rare blood clotting disorders (RBCD) include monogenic coagulopathies caused by a deficiency of plasma proteins involved in hemostasis, not related to von Willebrand disease and hemophilia A or B. RBCD include hereditary deficiencies or abnormalities of fibrinogen, prothrombin (factor II), coagulation factors V, VII, X, XI, XII, XIII. All these violations in the overwhelming majority of cases lead to violations of fibrin formation. The reasons for the development of RBCD are, as a rule, recessive inheritance of unique or rare nucleotide changes in genes encoding coagulation factors, or in proteins required for post-translational modifications of these factors. RBCD are most common in ethnic groups in which closely related marriages are accepted, due to the greater likelihood of homozygous carriage of the gene defect.