New therapeutic options for the treatment of transfusion-dependent Diamond-Blackfan anemia

Diamond-Blackfan anaemia is a rare congenital bone marrow failure syndrome characterized by suppression of erythropoiesis due to intense apoptosis of erythroid precursors resulting from defective ribosome biosynthesis. Classic options for the treatment of Diamond-Blackfan anaemia include long-term glucocorticosteroid therapy and transfusion of donor red blood cells. However, these approaches eventually lead to late adverse events, which stimulates the search for alternative therapies. In this paper, we review the current knowledge of the pathogenesis and therapy of this disease.