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The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.

Hematology (Amsterdam, Netherlands) - 1 Dec 2024

Cao Yan-Bin, Ge Yi-Yuan, Xie Long-Xu, Zeng Guang-Kuan, Lai Bai-Ru, Yu Xiao-Hua, Liang Jian-Lian, Yang Li-Ye

Abstract excerpt

OBJECTIVES: To explore the genotypic and phenotypic characteristics of HBB: c.316-146T > G carriers in China. METHODS: The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing. RESULTS: The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis...

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PMID: 39585810
DOI: 10.1080/16078454.2024.2433188

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