Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine

Abstract

Diamond-Blackfan anemia (DBA; OMIM:105650) attracts much attention, because symptoms are associated with mutations in RPS19[1][1] and RPS24[2][2] in 25% and 2% of DBA patients, respectively, indicating a possible relationship between the ribosomal function, translation levels and erythropoiesis.