Background: Thalassemia syndromes are highly prevalent in Southeast Asia. In Thailand, high performance liquid chromatography (HPLC) is the most common technique routinely performed in diagnosis of thalassemia and hemoglobinopathies, while isoelectric focusing (IEF) is rarely employed. We compared the diagnostic utility of IEF and HPLC in neonatal screening for thalassemia and non-sickling hemoglobinopathies.
Methods: Two-hundred and forty-one cord blood samples were analyzed using IEF and HPLC, β-thalassemia short program. The results were correlated with red cell indices and molecular analyses. Hemoglobin (Hb) Bart's was quantified only on IEF.
Results: Of 241 newborns, IEF and HPLC yielded 85.4% and 76.4% sensitivity to identify α-thalassemia syndrome, respectively. HbBart's≥2% yielded 100% sensitivity to identify 2 α-globin gene deletions and/or mutations, while MCV≤95fl and MCH≤30pg yielded 100% sensitivity to identify 2 α-globin gene deletions. DNA analysis revealed HbE mutation in all 61 subjects with HbA2>1% on both IEF and HPLC.
Conclusion: IEF is an effective method in neonatal screening for thalassemia and non-sickling hemoglobinopathies. The HbBart's level, MCV and MCH are helpful for identifying α-thalassemia. The presence of HbA2 higher than 1% in cord blood indicates HbE carriers in Southeast Asian newborns.
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http://dx.doi.org/10.1016/j.cca.2013.09.041 | DOI Listing |
Cytotherapy
January 2025
Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. Electronic address:
Background/aims: Human mesenchymal stromal cells (hMSC) are multipotent adult cells commonly used in regenerative medicine as advanced therapy medicinal products. The expansion of these cells in xeno-free supplements is highly encouraged by regulatory agencies due to safety concerns. However, the number of supplements with robust performance and consistency for hMSC expansion are limited.
View Article and Find Full Text PDFMetabolomics
January 2025
Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Background: Gestational exposure to non-persistent endocrine-disrupting chemicals (EDCs) may be associated with adverse pregnancy outcomes. While many EDCs affect the endocrine system, their effects on endocrine-related metabolic pathways remain unclear. This study aims to explore the global metabolome changes associated with EDC biomarkers at delivery.
View Article and Find Full Text PDFSci Data
January 2025
School of Medicine, Anhui University of Science and Technology, Huainan, 232001, China.
Ultrasound is a primary diagnostic tool commonly used to evaluate internal body structures, including organs, blood vessels, the musculoskeletal system, and fetal development. Due to challenges such as operator dependence, noise, limited field of view, difficulty in imaging through bone and air, and variability across different systems, diagnosing abnormalities in ultrasound images is particularly challenging for less experienced clinicians. The development of artificial intelligence (AI) technology could assist in the diagnosis of ultrasound images.
View Article and Find Full Text PDFZhonghua Fu Chan Ke Za Zhi
January 2025
Hospital Administration Office, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing100026, China.
To investigate the impact of preconception body mass index (BMI) on neonatal birth weight and the risk of macrosomia in pregnant women across various age groups. A cohort study was conducted, selecting pregnant women who underwent their initial prenatal assessment at Beijing Obstetrics and Gynecology Hospital from September 1st, 2018 to March 31st, 2020. Relevant data were collected from the hospital's electronic medical record system.
View Article and Find Full Text PDFFront Biosci (Landmark Ed)
January 2025
Department of Obstetrics and Gynecology, Zhongda Hospital, School of Medicine, Southeast University, 210000 Nanjing, Jiangsu, China.
Background: Pre-eclampsia (PE) is a gestational disorder that significantly endangers maternal and fetal health. Transfer ribonucleic acid (tRNA)-derived small RNAs (tsRNAs) are important in the progression and diagnosis of various diseases. However, their role in the development of PE is unclear.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!