THE ROLE OF GENETIC STUDIES IN THE DIAGNOSIS OF VARIOUS FORMS OF THROMBOCYTOPENIA IN CHILDREN (LITERATURE REVIE)
Keywords:
Immune thrombocytopenia, children, genetic testing, next-generation sequencing.Abstract
Immune thrombocytopenic purpura (ITP) is one of the most common immune hematopathies, in the development of which the leading role is played by antibodies directed against a narrow spectrum of platelet antigens. Despite the fact that mortality in chronic ITP is low (no more than 1%), the disease dramatically reduces the patient's quality of life and often requires complex and expensive treatment. A major problem is the diagnosis and treatment of chronic forms of the disease, under the guise of which hereditary thrombocytopenia or primary immunodeficiency (PID) can often be hidden. Recently, the use of high-throughput sequencing (HTS) has improved the diagnosis of hereditary thrombocytopenia. Using sequencing, 33 different forms of hereditary thrombocytopenia caused by molecular defects affecting at least 32 genes were identified; the pathogenetic mechanisms of thrombocytopenia were also studied in more detail and therapeutic options were developed.
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