Abstract
BackgroundRare genetic diseases are an important global public health problem. At present there are defined approximately 8120 genetic diseases in 15,465 epidemiological datasets and 70% of them start in childhood. Hematopoiesis is the production of all cellular components of blood and continues throughout life. ObjectiveThis study aims to present prevalence of hematopoietic rare genetic diseases recorden in Turkey. MethodsThe population of study consist of 84.680.273 people who received healthcare from the Turkish National Health Service (49.9% female, 50.1% male). TNHS collects and records electronic data which relates with illness or health information of Turkish population since 2018. All healthcare facilities utilize the Personal Electronic Health Record System (PHR), aligning with standards outlined in the Turkish National Health Data Dictionary and the Health Coding Reference Server (HCRS) established by the Ministry of Health in 2007. The data dictionary comprises essential packages such as patient application and examination records. ResultsDiagnosed female population (53.04%) were higher than male (46.96%). Data shows that most of the people with rare genetic diseases were diagnosed in Marmara Region. The overall prevalence of Hematopoietic Rare Genetic Diseases higher in the years of 2021 and 2022. ConclusionThe prevalence increased gradually from 2018 to 2022. The consanguinity marriage seems to be the main problem which resulted higher rate of rare genetic diseases in Türkiye.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
