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

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.

Characteristics of diabetes mellitus patients in Turkey: An analysis of national electronic health records.

BACKGROUND: It was estimated that there were 537 million people with diabetes mellitus in 2021, representing 10.5% of the global adult population. Diabetes prevalence in Turkey is 13.5%, according to a meta-analysis and 17.3% according to a recent study. Although the primary purpose of Electronic Health Records (EHRs) is clinical, researchers can use them to conduct epidemiologic investigations. This study aims to document the prevalence of diabetes and to evaluate the healthcare utilization of people with diabetes compared to the people without diabetes, based on national EHR. METHODS: Only people over 14 years old were included in the analysis. Our criteria for being diabetic were 1) having an HbA1c over 6.5% (48 mmol/mol), 2) having a prescription with DM diagnosis, ICD-10 codes E10-E14, or 3) having at least two fasting blood glucose measurements over 126 mg/dl. RESULTS: At the end of 2020, there were 7,178,674 individuals with diabetes, with 11.12% prevalence, 13.10% in women while 9.12% in men. Age-adjusted healthcare facility admission per capita was 15.5 for people with diabetes, 9.5 for people without diabetes, while the number of prescriptions was 7.9 for people with diabetes while 4.5 for people without diabetes in 2019. The mean number of prescriptions containing antidiabetics was 2.88 per person with diabetes in 2019. DISCUSSION: Approximately 11% of Turkish people have diagnosed with diabetes. We estimate that about one-third of people with diabetes are undiagnosed and the majority of these people are men. The results show that such large databases have the capability of supplying a vast amount of information to the scientific community.

COVID-19 in hematopoietic cell transplant recipients.

In this study, we aim to report the outcome of COVID-19 in hematopoietic cell transplant (HCT) recipients. HCT recipients (n = 32) with hematological disease and hospitalized for COVID-19 were included in the study. A cohort of age and comorbid disease-matched hospitalized COVID-19 patients with hematological malignancy but not underwent HCT (n = 465), and another cohort of age and comorbid disease-matched hospitalized COVID-19 patients without cancer (n = 497) were also included in the study for comparison. Case fatality rate (CFR) was 5.6% in patients without cancer, 11.8 in patients with hematological malignancy and 15.6% in HCT recipients. The CFR in HCT recipients who were not receiving immunosuppressive agents at the time of COVID-19 diagnosis was 11.5%, whereas it was 33% in HCT recipients who were receiving an immunosuppressive agent at the time of COVID-19 diagnosis. In conclusion, our study reveals that for the current pandemic, HCT recipients, especially those receiving immunosuppressive drugs, constitute a special population of cancer patients.