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

IF 1.4 4区医学 Q4 HEMATOLOGY Transfusion Clinique et Biologique Pub Date : 2024-01-11 DOI:10.1016/j.tracli.2024.01.005

Mahir Ülgü , Serkan Yilmaz , Duygu Öztaş , Bayram Göktaş , Abdullah Akünal

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Abstract

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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土耳其罕见造血遗传病的患病率：回顾性研究

背景罕见遗传病是一个重要的全球公共卫生问题。目前，15465 个流行病学数据集中定义了约 8120 种遗传病，其中 70% 的遗传病始于儿童时期。造血是血液中所有细胞成分的生成过程，贯穿人的一生。本研究旨在介绍土耳其罕见造血遗传病的流行情况。方法研究对象包括接受土耳其国家卫生服务机构医疗服务的 84 680 273 人（49.9% 为女性，50.1% 为男性）。自 2018 年起，土耳其国家卫生服务局收集并记录与土耳其人口的疾病或健康信息相关的电子数据。所有医疗机构都使用个人电子健康记录系统（PHR），与卫生部于2007年建立的土耳其国家健康数据字典和健康编码参考服务器（HCRS）中列出的标准保持一致。数据字典包括病人申请和检查记录等基本数据包。数据显示，大多数罕见遗传病患者都是在马尔马拉地区确诊的。2021年和2022年，造血罕见遗传病的总体患病率较高。结论从2018年到2022年，患病率逐渐上升。近亲结婚似乎是土耳其罕见遗传病发病率较高的主要问题。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Transfusion Clinique et Biologique 医学-免疫学

CiteScore

2.50

自引率

11.80%

发文量

234

审稿时长

36 days

期刊介绍： Transfusion Clinique et Biologique, the official journal of the French Society of Blood Transfusion (SFTS): - an aid to training, at a European level - the only French journal indexed in the hematology and immunology sections of Current Contents Transfusion Clinique et Biologique spans fundamental research and everyday practice, with articles coming from both sides. Articles, reviews, case reports, letters to the editor and editorials are published in 4 editions a year, in French or in English, covering all scientific and medical aspects of transfusion: immunology, hematology, infectious diseases, genetics, molecular biology, etc. And finally, a convivial cross-disciplinary section on training and information offers practical updates. Readership: "Transfusers" are many and various: anesthetists, biologists, hematologists, and blood-bank, ICU and mobile emergency specialists...

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