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

To explore the genotypic and phenotypic characteristics of : c.316-146T > G carriers in China. 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. The blood routine parameters of al...

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Bibliographic Details
Published in:Hematology (Luxembourg) 2024-12, Vol.29 (1), p.2433188
Main Authors: Cao, Yan-Bin, Ge, Yi-Yuan, Xie, Long-Xu, Zeng, Guang-Kuan, Lai, Bai-Ru, Yu, Xiao-Hua, Liang, Jian-Lian, Yang, Li-Ye
Format: Article
Language:English
Subjects:
Adult
beta-Globins - genetics
clinical feature
Female
Genetic Association Studies
Genotype
HBB:c.316-146T > G
Hemoglobins
Heterozygote
Humans
IVS-II-705(T > G)
Male
Middle Aged
Mutation
Phenotype
rare mutation
Β-thalassemia
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Summary:To explore the genotypic and phenotypic characteristics of : c.316-146T > G carriers in China. 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. The blood routine parameters of all these three cases were MCV  G combined with - deletion. The hematological phenotype of :c.316-146T > G mutation carriers is similar to that of common β heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.
ISSN:1607-8454
1607-8454
DOI:10.1080/16078454.2024.2433188