شيوع ناهنجاري هاي ژنتيكي در استان آذربايجان شرقي

THE PREVALENCE OF GENETIC DISORDERS IN EAST AZERBAIJAN PROVINCE

Background & Aims: Genetic disorders are responsible for a major proportion of mortality, morbidity, and handicap in the world varying by racial, ethnicity and cultural differences. The aim of this study was to estimate the prevalence of genetic disorders in East Azerbaijan. Materials & Methods: In this descriptive cross sectional study, 2968 cases (53% males and 47% females) with confirmed genetic disorders or carriers of the traits diagnosed by molecular methods were investigated. Sex, area/place of residence of patients, and reporting year were identified. The prevalence rate, descriptive statistics, and a 95% confidence interval were used for data analysis. Results: The study subjects were: patients (n=1312), carriers (n=1474), suspected cases (n=T57), and unknown cases (n=25). The most prevalent (in five years) disorders were identified as familial Mediterranean fever (20.58 in 100000), inherited deafness (11.37 in 100000), spinal-muscular atrophy (11.12 in 100000), cystic fibrosis (7.98 in 100000), Duchenne muscular dystrophy (7.84 in 100000), and down syndrome (5.09 in 100000). Conclusion: Estimating the true prevalence of the genetic disorders helps in planning health care and screening programs. The prevalence of these diseases in the region indicates the necessity to establish a population-based center for genetic disorders. More population-based investigations are however needed to develop effective preventive strategies to control genetic disorders in the region. Keywordsʹ. Inborn Genetic Diseases, Prevalence, Epidemiology.