Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia
Our present study highlighted the significance of whole-exome sequencing as the most promising path to genetic molecular diagnosis for patients with HS.
Authors
- Santasree Banerjee (ORCID: https://orcid.org/0000-0003-2481-4562)
- Ruping Liu (ORCID: https://orcid.org/0000-0002-6065-7114)
- Ke Cao (ORCID: https://orcid.org/0000-0001-5392-2306)
- Xiaoning Mao
- Xiaojuan Luo
- Lianlian Liu
- Yunsheng Chen (ORCID: https://orcid.org/0000-0002-8520-9852)
Institutions
- Jilin University (CN)
- Jilin Medical University (CN)
- Shenzhen Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-14
- DOI
- https://doi.org/10.3389/fgene.2025.1626155
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Basic and Applied Basic Research Foundation of Guangdong Province