Therapeutic trends and perspectives in Diamond Blackfan anemia

Maria - Teodora Vulpe

doi:10.5281/zenodo.10096719

Authors

Maria - Teodora Vulpe Facultaty of Medicine “Victor Papilian”, University Lucian Blaga, Sibiu, România

DOI:

https://doi.org/10.5281/zenodo.10096719

Keywords:

Diamond Blackfan anemia, bone marrow failure, blood transfusion, hematopoietic stem cell transplantation, gene therapy, genome editing

Abstract

Blackfan Diamond anemia is a rare clinical entity caused by mutations in genes encoding ribosomal proteins.

Erythrogenesis defects, somatic malformations, and increased risk of developing hematological malignancies or solid tumors place the affected pediatric population in the focus of specialists.

While classical approaches such as blood transfusions and stem cell transplantation aim to relieve anemia and correct bone marrow dysfunction, therapeutic strategies based on L-Leucine, Sotatercept, Trifluoperazine, SMER28, and Eltrombopag seek to improve the production of erythroid precursors.

Even if in its nascent stages, therapeutic directions focused on processing genetic material aim to remedy abnormal gene expression.

This literature review aims to highlight treatments used to improve blood-forming function and therapeutic prospects that could increase the life expectancy of patients with Diamond Blackfan anemia.

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