BETA-THALASSEMIA: THE STATE OF THE PROBLEM AND PROSPECTS (REVIEW)

Аннотация

The article analyzes the information accumulated to date on the incidence, prevalence, pathogenesis and features of the course of β-thalassemia, and also provides a brief overview of the main clinical methods for the diagnosis and treatment of this hemoglobinopathy. Literature data show that the problem of β-thalassemia remains medically and socially relevancy primarily for the countries of the Asian and Mediterranean regions. Measures of fighting with β-thalassemia in modern conditions are aimed not only at finding effective, safe and cost-effective ways to treat this disease, but also at developing screening programs of preventive orientation that allow identifying asymptomatic carriers of the pathology. The development of effective methods of diagnosis and prevention is based on an understanding of the molecular basis of the pathogenesis of β-thalassemia. Knowledge of the population-determined spectrum of the most significant and unique mutations for the region will prevent the birth of children with a severe form of the disease.