GENETIC EVALUATION OF THALASSEMIA DISEASE IN AZERBAIJAN

Thalassemias are a genotypically and phenotypically heterogeneous group of diseases. There are β-, α-, δ-, δβ– and γ-thalassemias, of which β– and δβ-thalassemias are of greatest practical interest for Uzbekistan. βthalassemia is the result of inhibition of beta-chain synthesis. In beta-thalassemia, there is an excess of alphapolypeptide chains. Homozygous beta-thalassemia is characterized by the appearance of clinical signs in the second half of the first year of a child's life. Patients often die in the neonatal period, some survive to school age and adolescence. Beta-thalassemia is characterized by a Mongoloid face type, a tower-shaped skull, and delayed physical development. Pallor of the skin, icterus of the sclera, visible mucous membranes, hepatosplenomegaly and, due to this, an increase in the size of the abdomen are revealed.