A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia
We report a novel pathogenic variant in the <i>ALAS2</i> gene (c.1102C > T:p. Arg368Trp), which caused CSA in a 10-year-old boy. Mutational analysis is important in patients with CSA when family history data are unavailable. Anemia due to the <i>ALAS2</i> Arg368Trp variant responds to pyridoxine supplements.
Authors
- Yuxuan Huang (ORCID: https://orcid.org/0000-0002-4842-8781)
- Dongqing Zhang
- Jianling Cai
- Zhanqin Huang (ORCID: https://orcid.org/0000-0002-9379-457X)
- Hongxing Chen (ORCID: https://orcid.org/0000-0002-1413-6051)
- Tianming Liu (ORCID: https://orcid.org/0000-0002-8132-9048)
- Meidie Yu
Institutions
- Shantou University (CN)
- First Affiliated Hospital of Shantou University Medical College (CN)
- Shantou University Medical College (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.3389/fped.2024.1411676
- Citations
- 1
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23