In most cases, DBA is an autosomal dominant disease caused by loss-of-function heterozygous variants in one of 19 ribosomal protein (RP) genes, that encode for proteins of both the small (RPS19, RPS26, RPS10, RPS24, RPS17, RPS7, RPS27, RPS29, RPS28, RPS15A) and the large (RPL5, RPL11, RPL35A, RPL26, RPL15, RPL31, RPL27, RPL35, RPL18) ribosomal subunit (Ulirsch et al., 2018). This evidence concerns the gene BLOC1S3 and Diamond-Blackfan anemia.