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Compound heterozygous with Hb G-Taipei and Hb Lepore-Boston-Washington: An unexpected finding triggered by HbA measurement.
Pract Lab Med
March 2024
Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, China.
Background: Hemoglobin A1c has been widely used to diagnose and monitor diabetes. However, the accuracy of HbA analysis can be significantly affected by hemoglobin variants, leading to falsely low or elevated levels and misdiagnosis or inappropriate diabetes management.
Case Report: In this study, we present the case of a 23-year-old man with undetectable HbA levels during his annual checkup by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE).
[Analysis of hemoglobin variants in Tianjin City and neighboring areas].
Zhonghua Yu Fang Yi Xue Za Zhi
December 2023
Laboratory of Hormones and Development, Tianjin Key Laboratory of Metabolic Diseases, Chu Hsien-I Memorial Hospital & Tianjin Institute of Endocrinology, Tianjin Medical University, Tianjin 300134,China Department of Immunology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin 300070,China.
To determine the types and proportion of common hemoglobin variants in Tianjin and surrounding areas, to analyze the recognition ability and the effects of hemoglobin variants on experimental results in two commonly used glycated hemoglobin systems, so as to provide data support for the consistency of HbA1c detection in Tianjin City. A case-control study was used for retrospective analysis,156 specimens with abnormal electrophoretic peaks in the detection of glycated hemoglobin were collected from more than 50 000 specimens of patients in Chu Hsien-I Memorial Hospital of Tianjin Medical University between June 2020 and December 2020. Determined their hemoglobin mutation sites by DNA sequencing, and compared the values of hemoglobin variants on glycated hemoglobin detection values by high performance liquid chromatography and capillary electrophoresis.
View Article and Find Full Text PDFBackground: There are occasional unexpected detections in HbA1c tests. Here, we described a novel β-globin gene mutation and its hematological phenotype.
Methods: The proband is a 60-year-old woman who was admitted to the hospital for two weeks due to chest pain.
Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China.
Medicine (Baltimore)
November 2021
Reproductive Medicine Center, Yuebei People's Hospital Affiliated to Shantou University Medical College, Shaoguan, Guangdong Province, China.
To detect the molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province of China.We recruited 10,285 subjects who were screened for hemoglobin (Hb) variants and thalassaemia genotypes in the outpatient department of Yuebei People's Hospital from January 2018 to December 2020. The subjects collected venous blood samples for blood cell parameter analysis and Hb electrophoresis analysis.
View Article and Find Full Text PDFPotential of MALDI-TOF mass spectrometry to overcome the interference of hemoglobin variants on HbA1c measurement.
Clin Chem Lab Med
July 2020
Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, Guangdong, PR China.
Objectives: Hemoglobin (Hb) variants remain an important cause of erroneous HbA1c results. We present an approach to overcome the interference of Hb variants on HbA1c measurements using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS).
Methods: Samples containing or not containing Hb variants were analyzed for HbA1c using an MALDI-TOF MS system (QuanTOF) and a boronate affinity comparative method (Ultra2).
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