Prevalence of the hematopoietic rare genetic diseases in Türkiye : A retrospective study
Copyright © 2024 Société française de transfusion sanguine (SFTS). Published by Elsevier Masson SAS. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:31 |
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| Enthalten in: |
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine - 31(2024), 2 vom: 26. Apr., Seite 81-86 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ülgü, Mahir [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 22.04.2024 Date Revised 22.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.tracli.2024.01.005 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM367088959 |
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| 245 | 1 | 0 | |a Prevalence of the hematopoietic rare genetic diseases in Türkiye |b A retrospective study |
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| 500 | |a Date Revised 22.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2024 Société française de transfusion sanguine (SFTS). Published by Elsevier Masson SAS. All rights reserved. | ||
| 520 | |a 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 | ||
| 520 | |a OBJECTIVE: This study aims to present prevalence of hematopoietic rare genetic diseases recorden in Turkey | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Prevalance | |
| 650 | 4 | |a Rare genetic disases | |
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| 700 | 1 | |a Öztaş, Duygu |e verfasserin |4 aut | |
| 700 | 1 | |a Göktaş, Bayram |e verfasserin |4 aut | |
| 700 | 1 | |a Akünal, Abdullah |e verfasserin |4 aut | |
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