Article
Analysis of rare thalassemia genetic variants based on third-generation sequencing.
Scientific reports - 14 Jun 2022
Peng Cuiting, Zhang Haixia, Ren Jun, Chen Han, Du Ze, Zhao Tong, Mao Aiping, Xu Ruofan, Lu Yulin, Wang He, Chen Xinlian, Liu Shanling
Abstract excerpt
Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging. Long-range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized in this study could cover the entire HBA1, HBA2 and HBB genes, enabling the diagnosis of most of the common and rare...
Topics
- Genotype
- Humans
- Mutation
- Sequence Analysis, DNA
- alpha-Globins
- alpha-Thalassemia
- beta-Thalassemia