Abstract
Diamond-Blackfan anemia (DBA) is a congenital cause of bone marrow failure predominantly involving the erythroid cell line, with occasional impact on other cell lines. In the vast majority of cases, it is diagnosed by one year of age. We looked at the existing literature on the disease presentation along with established as well as upcoming treatment options. Numerous genes have been identified and extensively studied in the context of their part in the pathogenesis of DBA. Treatment revolves around the use of steroids and regular blood transfusions, with hematopoietic stem cell transplantation reserved for steroid-resistant cases. Newer modalities such as gene therapy, l-leucine, sotatercept, trifluoperazine, SMER28, and danazol are also concisely discussed. The purpose of this article is to review the previous literature on DBA and weigh the role of newer therapeutic agents.
Highlights
BackgroundDiamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome that affects the erythroid precursors
This study indicated the role of transcription factors in the pathogenesis of DBA, which should be further explored
A drug screen was conducted on induced pluripotent stem cells from DBA patients and SMER28 was identified as a compound that stimulated erythropoiesis [47]
Summary
Anshika Tyagi 1 , Apurv Gupta 1 , Anirban Dutta 2 , Pooja Potluri 3 , Badie Batti 4. 1. Medicine, Maulana Azad Medical College, New Delhi, IND 2. Dr NMB Baruah Nursing Home, Nalbari, IND 3. Jawaharlal Nehru Medical College, Belgaum, IND 4.
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