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Review
. 2022 Feb 8;23(3):1886.
doi: 10.3390/ijms23031886.

Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems

Zuzana Macečková  1 , Agáta Kubíčková  1   2 , Juan Bautista De Sanctis  1   2 , Marian Hajdúch  1   2
Affiliations
Review

Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems

Zuzana Macečková et al. Int J Mol Sci. .

Abstract

Diamond-Blackfan anaemia (DBA) is a red blood cell aplasia that in the majority of cases is associated with ribosomal protein (RP) aberrations. However, the mechanism by which this disorder leads to such a specific phenotype remains unclear. Even more elusive is the reason why non-specific agents such as glucocorticosteroids (GCs), also known as glucocorticoids, are an effective therapy for DBA. In this review, we (1) explore why GCs are successful in DBA treatment, (2) discuss the effect of GCs on erythropoiesis, and (3) summarise the GC impact on crucial pathways deregulated in DBA. Furthermore, we show that GCs do not regulate DBA erythropoiesis via a single mechanism but more likely via several interdependent pathways.

Keywords: Diamond-Blackfan anaemia; GATA1; autophagy; c-myc; erythropoiesis; glucocorticosteroid; mTOR.

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Conflict of interest statement

The authors declare that there is no conflict of interest.

Figures

Figure 1
Figure 1
Regulation of relevant signalling proteins and pathways levels in DBA versus normal erythropoiesis (HSC: hematopoietic stem cells, BFU-E: burst-forming unit-erythroid, CFU-E: Colony-forming unit-erythroid).
Figure 2
Figure 2
Schematic overview of stress versus normal erythropoiesis. (HSC: hematopoietic stem cells, BFU-E: burst-forming unit-erythroid, CFU-E: colony-forming unit-erythroid, Epo: erythropoietin).
Figure 3
Figure 3
Possible mechanism involved in GC-mediated improvement of DBA erythropoiesis. (HSC: hematopoietic stem cells, BFU-E: burst-forming unit-erythroid, CFU-E: colony-forming unit-erythroid, DBA: Diamond Blackfan anemia, GC: glucocorticosteroids).
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