Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by defective erythropoiesis, typically caused by mutations in ribosomal protein (RP) genes, most commonly RPS19. It usually presents in early infancy with severe anemia, growth retardation, and an increased risk of congenital malformations and malignancies. Here, BLOC1S3 is linked to Diamond-Blackfan anemia.