Development of novel therapies for Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a congenital erythroid hypoplasia manifesting early inlife. In at least 60-70% of cases, DBA is caused by a functional haploinsufficiencyof genes encoding for ribosomal proteins. Approximately, 25% percent of patientshave mutations in the gene encoding ribosomal protein S19 (RPS19). Thehematological profile of DBA patients shows macrocytic anemia withreticulocytopenia, n