ArticleJournal of clinical laboratory analysis2026
An Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.
Article in Journal of clinical laboratory analysis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo analyze the clinical diagnostic value for thalassemia genotyping using peripheral blood mRNA.
methodsTotal RNA was extracted from 103 pre-genotyped peripheral blood samples, followed by cDNA synthesis. These samples comprised 21 wild-type cases, 49 α-globin gene mutant cases and 33 HBB mutant cases. An Integrated strategy was adopted, combining single-reaction Sanger sequencing with the multiple quantitative fluorescence PCR (MQF-PCR), to analyze the full-length coding sequences and expression level of HBA2/HBA1/HBB respectively.
results(1) The substitution mutations located in the coding region (n = 14) were successfully detected, and the mutations located in the HBB non-coding region displayed negative results (n = 13). The samples with β
conclusionThis mRNA-based strategy enabled detection of coding-region mutations in the HBA2/HBA1/HBB and prediction of non-coding-region mutations as well as gross deletions with high coverage, low cost and simple operation.
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