Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations

Chen, Qiong; Yang, Xiaobo; Huang, Weilun; Li, Ziyan; Xu, Mingli; Li, Yang; Tao, Fangchao; Huang, Zijun; Xu, Yang; Zhao, Xue-Feng; Jiang, Linxiao; Zhou, Wanjun

doi:10.1007/s00439-023-02520-w

Cited by 1 publication

(1 citation statement)

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“…Variants were identified using a method based on the target-allele-specific probe singlebase extension and traditional single-base extension method to detect 28 α-/β-thalassemia variants by single-tube MALDI-TOF-MS. The principle of the method, reagents and instrumentation used, and steps followed were published previously [8].…”

Section: Thalassemia Genotypingmentioning

confidence: 99%

Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China

Huang,

Li,

et al. 2024

Ann Lab Med

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Background: Quantitative detection of glucose-6-phosphate dehydrogenase (G6PD) is commonly done to screen for G6PD deficiency. However, current reference intervals (RIs) of G6PD are unsuitable for evaluating G6PD-activity levels with local populations or associating G6PD variants with hemolysis risk to aid clinical decision-making. We explored appropriate RIs and clinical decision limits (CDLs) for G6PD activity in individuals from Guangzhou, China.Methods: We enrolled 5,852 unrelated individuals between 2020 and 2022 and screened their samples in quantitative assays for G6PD activity. We conducted further investigations, including G6PD genotyping, thalassemia genotyping, follow-up analysis, and statistical analysis, for different groups.Results: In Guangzhou, the RIs for the G6PD activities were 11.20-20.04 U/g Hb in male and 12.29-23.16 U/g Hb in female. The adjusted male median and normal male median (NMM) values were 15.47 U/g Hb and 15.51 U/g Hb, respectively. A threshold of 45% of the NMM could be used as a CDL to estimate the probability of G6PD variants. Our results

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Section: Thalassemia Genotypingmentioning

confidence: 99%