GENETIC FEATURES OF SICKLE CELL ANEMIA AND TREATMENT PROSPECTS

Abstract

Sickle cell anemia is a monogenic hemoglobinopathy based on a mutation of the HBB gene with the formation of hemoglobin S and the development of chronic hemolysis, vasoocclusion and progressive organ damage. The aim of the work is to summarize information about the genetic features of sickle cell anemia and evaluate the prospects for therapy.

It has been shown that not only the basic HBB mutation is important for the clinical phenotype, but also fetal hemoglobin level modifiers, inheritance of alpha-thalassemia, as well as a variant of HbS combinatorics with other defects of the β-globin cluster. For the Russian Federation, timely detection of HbS-associated conditions, expansion of molecular genetic verification of diagnosis and routing of patients to specialized centers are of the greatest practical importance.

Standard therapy is still based on hydroxyurea, transfusion support, and prevention of complications, while the most promising areas remain hematopoietic stem cell transplantation, exogenous administration of antiserpine constructs, and genome editing with HbF reactivation.

It is concluded that there is a need to strengthen laboratory vigilance towards hemoglobinopathies in the Russian Federation and the high scientific value of genetically oriented personalized approaches to therapy.