Diamond–Blackfan anemia (DBA) is an autosomal dominant form of erythrocyte hypoplasia caused mainly by pathogenic germline variants of ribosomal protein genes, such as ribosomal protein S19 (RPS19), RPS24, RPS17, RPL5, RPL11 and RPL35A, with clinical manifestations such as severe anemia, skeletal malformations, and cancer predisposition [78]. Here, RPS19 is linked to Diamond-Blackfan anemia.