Genetic Burden of Single-gene and Chromosomal Pathology in Pediatric Population of the South-East of Kharkiv Region

The genetic disorders burden varies widely among different countries and ethnic groups. Therefore, the study of prevalence of certain pathologies in selected regions is an important stage in human genetics research, which may increase genetic safety of the population and state policy in the medical sector in general. The purpose of the study was to assess genetic and epidemiological characteristics of the pediatric population of four districts of south-east of the Kharkiv region: Balakliia, Blyzniuky, Zmiiv and Izium. Material and methods. Total number of children aged 0–17 was 13636 in Balakliia district, 3623 children were in Blyzniuky district, 11957 children were in Zmiiv district and 10701 children were in Izium district. The medical information on 561 patients of target groups was analyzed in medical institutions of all four districts and the city of Kharkiv. The only single-gene and chromosome disorders were analyzed during the medical genetic survey. The genetic disorders prevalence was calculated as the ratio of the patients with certain inherited disease to the total number of population studied. The prevalence of X-linked diseases was calculated per male individuals. Results and discussion. The burden of genetic disorders in pediatric population was 0.48% in Balakliia district, 0.60% in Blyzniuky district, 0.42% in Zmiiv district, and 0.45% in Izium district. The spectrum and prevalence of single-gene diseases were determined. The prevalence of single-gene disorders in the district was 0.42%, 0.55%, 0.35%, and 0.36%, respectively. There were 31 nosological forms of monogenic disorders with different types of inheritance in pediatric population of Balakliia district, 12 forms were in Blyzniuky district, 22 forms were in Zmiiv district, and 18 forms were in Izium district. The most frequent genetic diseases were sensorineural hearing loss (1:1331), hypopituitarism (1:3629), and ichthyosis vulgaris (1:3629). The burden of chromosomal disorders in pediatric population was 0.09% in Balakliia district, 0.08% was in Blyzniuky district, 0.07% was in Zmiiv district, and 0.09% was in Izium district. There were 3 nosological forms of chromosomal disorders in the population studied, but only Down syndrome was a common disease for all four districts (1:1331). Conclusions. The obtained results showed that the characteristics of genetic pathology in the South-east of the Kharkiv region were comparable to those in most of the Eastern European population both in their spectrum and prevalence.