Diamond-Blackfan anemia causes
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- A mutation in the RPS19 gene is the cause of DBA in about 25% of patients.
- Mutations in RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26, and rarely in RPL15, RPL17, RPL19, RPL26, RPL27, RPL31, RPS15A, RPS20, RPS27, RPS28, RPS29 have also been found.[1]
- Mutation in non-RP genes, TSR2, GATA1, and EPO.[1]
- 20 percent of patients still have no known genetic cause.[1]
References
- ↑ 1.0 1.1 1.2 Da Costa L, Narla A, Mohandas N (2018). "An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia". F1000Res. 7. doi:10.12688/f1000research.15542.1. PMC 6117846. PMID 30228860.