Since mutations in RPS19 were identified as the first causal genetic lesions for DBA in 1999,139 mutations in nineteen of the eighty-one RP-encoding genes have been identified, with RPS19 (25%), RPL5 (7%), RPS26 (6.6%) and RPL11(5%) being the most frequently mutated genes in DBA140,141 (Table 2). Here, BLOC1S3 is linked to Diamond-Blackfan anemia.