Congenital dyserythropoietic anemia

Andreea Tudor

doi:10.5281/zenodo.10096493

Authors

Andreea Tudor Carol Davila University of Medicine and Pharmacy, Bucharest

DOI:

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

Keywords:

Congenital dyserythropoietic anemia, Hereditary anemia, Iron overload

Abstract

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.

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