Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing
Our study identified a novel large deletion, which expanded the α-thalassemia gene variant spectrum and confirmed the efficiency of SMRT technology in detecting rare thalassemia variants, provided genetic counseling and prenatal intervention in clinical rare patients.
Authors
- Min Zhao (ORCID: https://orcid.org/0000-0003-1779-8111)
- Shulin Wu (ORCID: https://orcid.org/0000-0001-8276-7974)
- Peng Jiang (ORCID: https://orcid.org/0000-0003-3647-8500)
- Zonghui Feng
- Xian Zhang (ORCID: https://orcid.org/0000-0001-9674-7886)
- Fengtao Jiang (ORCID: https://orcid.org/0000-0003-3447-5576)
- Gang Xiao (ORCID: https://orcid.org/0009-0009-2048-8705)
Institutions
- Huaihua University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-04
- DOI
- https://doi.org/10.3389/fgene.2025.1669814
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00