BLOC1S3 and Diamond-Blackfan anemia: Since the initial identification of RPS19, approximately 50–60 % of DBA patients have been found to have mutations or deletions in genes encoding ribosomal protein (RP) of both the small and large subunits, including RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, RPS26, RPL26 and RPS29 [6, 7].