PRIMARY DIAGNOSIS OF THREE POLYMORPHISMS IN HETEROSYGOTIC CONDITION OF BETA-THALASSEMIA IN THE REPUBLIC OF UZBEKISTAN, CLINICAL CASE.

Abstract

Thalassemias are a heterogeneous group of blood diseases related to quantitative hemoglobinopathies, in which there is a decrease or complete absence of the synthesis of globin chains that make up the human hemoglobin molecule (HbA, Hbf and Hba2). Beta thalassemia is based on hereditary inhibition of the synthesis of chains that make up HbA.  Currently, in the Republic of Uzbekistan, 346 children with beta thalassemia and 35 adults over 18 years of age are registered at the dispensary, in addition, there are also hidden carriers. All registered patients, based on the results of molecular genetic analysis, have been receiving chelation therapy over the past 8 years, as a result of which mortality rates have decreased, quality of life has improved and life expectancy has increased. Before chelation therapy, 99% of children died before reaching adolescence. However, in patients with beta thalassemia, bone marrow transplantation is successful in more than 90% of cases.