The relevance of beta-thalassemia molecular-genetic diagnostics in Russian Federation

Beta-thalassemia being one of the most widespread monogenic diseases in the world is characterized by the HBB gene mutations leading to beta-globin chain decrease. Despite of the specific laboratory features diagnosis of beta-thalassemia may seem difficult especially when speaking of minor forms and carriers. The common diagnostic standard includes complete blood count with analysis of hematological indices, iron deficiency exclusion and examination of hemoglobin fractions. The last and the crucial step is providing molecular-genetic study of HBB gene as the method allowing to verify the diagnosis. The beta-thalassemia pathogenesis, comprehensive genetic classification and various laboratory diagnostics tools are discussed in this review. There exists huge knowledge about beta-thalassemia prevalence in endemic regions but little is known of beta-thalassemia incidence in nonendemic countries, e.g., Russian Federation. Nevertheless, studying beta-thalassemia prevalence in Russia remains relevant considering multi ethnicity of Russian Federation. This review presents the diagnostics algorithm with the use of HBB gene Sanger sequencing and the results of beta-thalassemia prevalence pilot research. According to the data obtained the minimal possible beta-thalassemia incidence in Moscow accounts for 0.16 %.