A CASE REPORT OF DIAMOND-BLACKFAN ANEMIA IN A CHILD

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Published: 2025-12-15
DOI: https://doi.org/10.55640/
Keywords:
Diamond–Blackfan anemia; congenital pure red cell aplasia; macrocytic anemia; reticulocytopenia; bone marrow failure; erythroid hypoplasia

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Badal Krishna
International students faculty, Asia International University, Bukhara

Abstract

Diamond–Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by normochromic macrocytic or normocytic anemia with markedly reduced or absent erythroid precursors in the bone marrow. It typically presents in early infancy. Once diagnosed, corticosteroids and red blood cell transfusions constitute the mainstays of treatment, although some patients ultimately require hematopoietic stem cell transplantation. To describe the clinical and hematological characteristics of a one-year-old female child diagnosed with Diamond–Blackfan anemia. We report the case of a one-year-old female child who presented with severe anemia and reticulocytopenia, requiring regular red blood cell transfusions from the fourth day of life. Bone marrow examination revealed selective suppression of the erythroid lineage, confirming the diagnosis of Diamond–Blackfan anemia. It should be strongly suspected in infants, with or without associated congenital anomalies, who present early in life with anemia and reticulocytopenia. Early recognition is essential for appropriate management and long-term follow-up.

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Issue

Vol. 4 No. 11 (2025): Journal of Multidisciplinary Sciences and Innovations

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Articles
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This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors retain the copyright of their manuscripts, and all Open Access articles are disseminated under the terms of the Creative Commons Attribution License 4.0 (CC-BY), which licenses unrestricted use, distribution, and reproduction in any medium, provided that the original work is appropriately cited. The use of general descriptive names, trade names, trademarks, and so forth in this publication, even if not specifically identified, does not imply that these names are not protected by the relevant laws and regulations.

How to Cite

A CASE REPORT OF DIAMOND-BLACKFAN ANEMIA IN A CHILD. (2025). Journal of Multidisciplinary Sciences and Innovations, 4(11), 2901-2904. https://doi.org/10.55640/

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