Prevalence of the hematopoietic rare genetic diseases in Türkiye: A retrospective study
Mahir Ülgü1, Serkan Yilmaz2, Duygu Öztaş2
1Turkish Ministry of Health, Ankara, Türkiye.
Insights
Prevalence of rare genetic blood diseases in Turkey increased from 2018-2022, with higher rates in females and the Marmara Region. Consanguinity marriage is a significant contributing factor.
Area of Science:
- Medical Science
- Genetics
- Public Health
Background:
- Rare genetic diseases pose a significant global health challenge, with approximately 8120 identified conditions.
- Over 70% of rare genetic diseases manifest in childhood, impacting hematopoiesis, the lifelong production of blood cells.
Purpose of the Study:
- To determine the prevalence of rare genetic diseases affecting hematopoiesis in Turkey.
- To analyze trends and regional variations in these conditions.
Main Methods:
- Utilized electronic health records from the Turkish National Health Service (TNHS) covering 84,680,273 individuals from 2018 onwards.
- Employed the Personal Electronic Health Record System (PHR) and standardized health coding for data collection and analysis.
Main Results:
- The prevalence of hematopoietic rare genetic diseases showed an increase in 2021 and 2022.
- A higher proportion of diagnoses occurred in the female population (53.04%) compared to males (46.96%).
- The Marmara Region reported the highest number of diagnoses for rare genetic diseases.
Conclusions:
- A gradual increase in the prevalence of rare genetic diseases was observed from 2018 to 2022.
- Consanguinity marriage is identified as a primary factor contributing to the elevated rates of rare genetic diseases in Turkey.
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.
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