BLOC1S3 and Diamond-Blackfan anemia: In addition, Diamond-Blackfan Anemia (DBA) is a genetic syndrome caused by heterozygous mutations in several RP genes involved in the biogenesis of the small and large ribosomal subunits, such as RPS10, RPS26, RPS24, RPS17, RPS7, RPL35a, RPL11, RPL5, RPL26, RPL15 and RPS19, which account for ~60–70% of DBA cases [10–12].