Finally, two mutant variants of the RPS20 gene have recently been described that correspond to substitutions I84N and I84S in the protein in patients with the genetic disorder, Diamond-Blackfan anemia (DBA), a form of ribosomopathy characterized by red cell aplasia and macrocytic anemia [28] and usually caused by mutations in genes of a number of ribosomal proteins [29]. This evidence concerns the gene RPS20 and Diamond-Blackfan anemia.