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

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

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 bl...

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Bibliographic Details
Main Authors: Yan-Bin Cao, Yi-Yuan Ge, Long-Xu Xie, Guang-Kuan Zeng, Bai-Ru Lai, Xiao-Hua Yu, Jian-Lian Liang, Li-Ye Yang
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Hematology
Subjects:
Β-thalassemia
HBB:c.316-146T > G
IVS-II-705(T > G)
rare mutation
clinical feature
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2024.2433188
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