Article
Characterization of a novel HBB:c.194dup variant of the β-globin gene combined with six alpha genes.
The Journal of international medical research - 1 May 2022
Huang Jungao, Ding Le, Chen Junkun, Chen Shiping, Tian Peirun, Xie Jun, Huang Xiaoyan, Xin Xiaoqin
Abstract excerpt
β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was validated by Sanger sequencing. Based on the patient's clinical data, this novel mutation was classified as severe...
Topics
- Alleles
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Middle Aged
- Mutation
- Phenotype
- beta-Globins
- beta-Thalassemia