The spectrum and prevalence of genetic pathology among children and adolescents of the northern districts of kharkiv region

Abstract

The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries. The study of these indicators is an important trend of modern human genetics. The purpose of the research was to study genetic and epidemiological characteristics of the pediatric population of two northern districts of the Kharkiv region, Ukraine: Bogodukhiv and Vovchansk. Total number of children aged 0–17 was 6896 in Bogodukhiv district, and 7891 in Vovchansk district on 01/01/2016. The medical records of 307 patients were analyzed in healthcare facilities of both districts and the city of Kharkiv. The subject of the study was the cases of single-gene and chromosomal diseases. The burden of genetic disorders among children and adolescents was 0.30% in both districts. The prevalence of single-gene diseases in these districts was 0.24% in Bogodukhiv district and 0.25% in Vovchansk district. There were 9 and 12 single-gene disorders with different modes of inheritance, respectively. Only two of them were common in the districts: congenital hypothyroidism and sensorineural hearing loss. The incidence of the latter is 1:985 in Bogodukhiv district and 1:1578 in Vovchansk district. Chromosomal pathology was detected in 0.06% of the patients in Bogodukhiv district and 0.05% in Vovchansk district. Down syndrome was the only nosological form of chromosomal disorders in both districts. For other five areas of Kharkiv region, the prevalence of genetic pathology ranges from 0.36% in Izyum district to 0.47% in Balakliia and Blyzniuky as have been previously reported. The incidence of single-gene disorders is 0.27% in Izyum and 0.39% in Blyzniuky, while the incidence of chromosomal disorders varies from 0.07% in Zmiiv to 0.13% in Krasnohrad. Thus, the spectrum and prevalence of single-gene and chromosomal pathology in Bogodukhiv and Vovchansk districts correspond to those in other districts of Kharkiv region and most European countries.