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Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
Accuracy of noninvasive total haemoglobin measurement for detecting anaemia in infants: a cross-sectional study in a well-child care clinic, Khon Kaen, Thailand.
BMJ Open
December 2024
Department of Pediatrics, Khon Kaen University Faculty of Medicine, Khon Kaen, Thailand.
Objective: Infants are at a high risk of developing anaemia, which can arise from various causes, including inappropriate feeding practices. However, few infants attend anaemia screening programmes due to poor cooperation and being time-consuming. This study evaluated the accuracy of noninvasive total haemoglobin (Hb) spot-check monitoring as part of anaemia screening in healthy infants, compared with the conventional laboratory method.
View Article and Find Full Text PDF[The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong 529500, China.
Objective: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.
Methods: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd.
Estimation of noncanonical pyroptosis biomarkers gasdermin D and caspase 4 in gingiva of periodontitis and diabetes patients: An observational cross-sectional study.
J Indian Soc Periodontol
December 2024
Department of Periodontics, Thai Moogambigai Dental College and Hospital, Dr. M.G.R. Educational and Research Institute, Chennai, Tamil Nadu, India.
Background: Periodontitis and diabetes are chronic diseases where inflammation plays a central role, with each condition exacerbating the other. Pyroptosis, an inflammatory form of programmed cell death, is implicated in periodontitis and diabetes. The activation of gasdermin D (GSDMD), a key mediator of pyroptosis, promotes cytokine release and perpetuates tissue destruction in both.
View Article and Find Full Text PDFCurrent status and trends in thalassemia burden across South, East and Southeast Asia, 1990-2021 a systematic analysis for the global burden of disease study 2021.
BMC Public Health
December 2024
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, People's Republic of China.
Objective: Thalassemia, an inherited hemoglobin synthesis disorder, imposes a significant health burden in Asian regions with high prevalence. Detailed patterns and trends of the disease across countries and territories within these regions remain underexplored. Our study focuses on the disease burden indices of thalassemia within the four GBD-defined Asian regions and the twenty-five included countries and territories.
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