A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants
Author:
Funder
Public Welfare Project for Rare Blood Disorders in the field of Hematology in China
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1186/s12920-024-01973-w.pdf
Reference27 articles.
1. Gallagher PG. Difficulty in diagnosis of Hereditary Spherocytosis in the Neonate. Pediatrics, 2021. 148(3).
2. Wang C, et al. A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model. Intractable Rare Dis Res. 2015;4(2):76–81.
3. Agarwal AM. Ankyrin mutations in Hereditary Spherocytosis. Acta Haematol. 2019;141(2):63–4.
4. van Asten I, et al. Hereditary spherocytosis without pronounced spherocytes on the peripheral blood smear. Int J Lab Hematol. 2023;45(1):6–8.
5. Russo R, et al. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol. 2018;93(5):672–82.
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