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A clinical case of Diamond – Blackfen anemia in a child
[Notes from practice]
Natalia Anatolyevna Belykh; Polina Olegovna Kotova; Inna Vladimirovna Piznyur; Valeria Vadimovna Gavrilova;
Diamond – Blackfen anemia (DBA) is a rare genetic disease that affects the bone marrow’s ability to produce red blood cells, leading to severe anemia and various developmental abnormalities. The only treatment for DBA today is bone marrow transplantation. The article provides information on the epidemiology, clinical picture, diagnosis and treatment of DBA, as well as our own clinical observation. The presented clinical case is interesting for the initial resistance of a patient with DBA to glucocorticosteroid therapy, as well as the development of transfusion dependence, which required hematopoietic stem cell transplantation.
References:
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2. Da Costa L., Mohandas N., David-Nguyen L., Platon J., Marie I. [et al]. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies? Blood Cell. Molec. Dis. 2024;6:102838. https://doi.org/10.1016/j.bcmd.2024.102838
3. Voit A., Liao X., Caulier A., Shimamura A., David A. [et al.]. Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia. Cell. Stem Cell. 2025;32(1):38-52. https://doi.org/10.1016/j.stem.2024.10.012
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9. Bhoopalan S. V., Suryaprakash S., Sharma A., Wlodarski M. W. Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science. Front. Оncol. 2023;11(13):1236038. https://doi.org/10.3389/fonc.2023.1236038
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Keywords: erythroid aplasia, anemia, ribosomopathy, clinical case, children
Founders:
Stavropol State Medical Academy
Pyatigorsk State Research Institute of Balneotherapeutics
Pyatigorsk State Pharmaceutical Academy