Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations
Background Diamond-Blackfan anemia is a rare, pure red blood cell aplasia t5 dermatome of childhood due to an intrinsic defect in erythropoietic progenitors.About 40% of patients display various malformations.Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation.Def