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.

Abstract excerpt

OBJECTIVE: To analyze the clinical diagnostic value for thalassemia genotyping using peripheral blood mRNA. METHODS: Total 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...

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