Congenital dyserythropoietic anemia

Autori

  • Andreea Tudor Carol Davila University of Medicine and Pharmacy, Bucharest

DOI:

https://doi.org/10.5281/zenodo.10096493

Cuvinte cheie:

Congenital dyserythropoietic anemia, Hereditary anemia, Iron overload

Rezumat

Congenital dyserythropoietic anemia (CDA) is a rare inherited hematological disorder characterized by impared erythroblast maturation, leading to anemia. An overview of CDA with an emphasis on its molecular underpinnings, clinical characteristics and manifestations are provided in this article.
Mutations in crucial genes for erythroid differentiation, which affect nuclear morphology and hemoglobin production, are part of the pathopshysiology of CDA. Jaundice, hepatosplenomegaly and anemia are a few examples of the clinical symptoms. Genetic test and bone marrow analysis are used for diagnosis.

Referințe

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Descărcări

Publicat

2023-11-10

Cum cităm

Tudor, A. (2023). Congenital dyserythropoietic anemia. Hemostasis Thrombosis and Anemic Syndromes, 1(2), 22–25. https://doi.org/10.5281/zenodo.10096493

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