Prevalence of the hematopoietic rare genetic diseases in Türkiye: A retrospective study

Ülgü M., Yilmaz S., Öztaş D., Göktaş B., Akünal A.

Transfusion Clinique et Biologique, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2024
  • Doi Number: 10.1016/j.tracli.2024.01.005
  • Journal Name: Transfusion Clinique et Biologique
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, MEDLINE
  • Keywords: Blood, Prevalance, Rare genetic disases, Turkey
  • Ankara University Affiliated: Yes


Background: Rare 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. Objective: This study aims to present prevalence of hematopoietic rare genetic diseases recorden in Turkey. Methods: The 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. Results: Diagnosed 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. Conclusion: The 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.