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Ribosomal Dysfunctions in Diamond-Blackfan Anemia
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Keywords

Diamond-Blackfan Anemia
Ribosomes
Proteins
Gene

How to Cite

Ribosomal Dysfunctions in Diamond-Blackfan Anemia. (2024). Electronic Journal Collection Health, 24(4), e15733. https://doi.org/10.25248/reas.e15733.2024

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Abstract

Objective: To identify in the scientific literature the association between ribosomal disorders and their implication in Diamond-Blackfan anemia. Methods: This is an integrative review, with articles published between 2008 and 2023, in Portuguese, English, and Spanish, with full text available. The guiding question was: What is the relationship between ribosomal dysfunctions and Diamond-Blackfan anemia? The bibliographic search was conducted in October 2023, with searches in the following databases: BVS and PUBMED, using Health Science Descriptors (DeCS): Ribosomes and Diamond-Blackfan Anemia, and Medical Subject Headings terms (MeSH terms): dysfunction, ribosome, and anemia, diamond blackfan, combining terms using the boolean operator "AND". Results: 13 articles that met the inclusion and exclusion criteria, in which the underlying mechanisms of DBA were explored, with a focus on genetic and molecular aspects. Final considerations: The research highlights the complexity of ribosomal biogenesis mechanisms, regulatory genes, p53 protein, linking them to blood cell production and the phenotypic characterization of the disease. Understanding the interconnection of these regulatory aspects is essential for diagnosis and treatment, opening up prospects for more targeted therapies in the future.

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