Diamond Blackfan Anemia (DBA) is an inherited erythroid aplasia with onset in childhood.
Patients carry heterozygous mutations in one of 19 Ribosomal Protein (RP) genes, that lead to
defective ribosome biogenesis and function. Standard treatments include steroids or blood transfusions
but the only definitive cure is allogeneic Hematopoietic Stem Cell Transplantation (HSCT). Although
advances in HSCT have greatly improved the success rate over the last years, the risk of adverse
events and mortality is still significant.
Clinical trials employing gene therapy are now in progress for a variety of monogenic diseases and the
development of innovative stem cell-based strategies may open new alternatives for DBA treatment as
well. In this review, we summarize the most recent progress toward the implementation of new therapeutic
approaches for this disorder. We present different DNA- and RNA-based technologies as well
as new candidate pharmacological treatments and discuss their relevance and potential applicability
for the cure of DBA.
Keywords: Bone marrow failure syndrome, diamond blackfan anemia, gene editing, gene therapy, ribosomal protein, ribosomopathy.
Rights & PermissionsPrintExport