Genetic screening of newborns in Baku for hereditary hemoglobinopathies

Abstract

Hereditary hemoglobinopathies are part of a group of blood diseases called hemolytic anemias. In general, hemoglobinopathy is the synthesis of abnormal hemoglobin. Hemolytic anemias occur in approximately 12% of the world’s population. This article is devoted to the results of genetic screening among newborns in Baku in order to study the frequency of hemoglobinopathies. The study involved 267 newborns. Among them are 143 boys and 124 girls. The studies were carried out in 2018-2019. To determine hemoglobinopathies among newborns, we used the method of iso-electrofocusing. The article also details the results of molecular diagnostics of the β-thalassemia gene in newborns by high-temperature allele-specific amplification. In Baku, the presence of pathological genes of α- and β-thalassemias and structurally abnormal hemoglobins S and D was established. Types of β-thalassemia mutations have been identified.