Vol 53, No 1 (2022)
Review article
Published online: 2022-01-20

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Modeling congenital dyserythropoietic anemia in genetically modified mice

Ranju Kumari12, Piotr Kaźmierczak1
Acta Haematol Pol 2022;53(1):26-38.


Congenital dyserythropoietic anemias (CDAs) are a group of inherited disorders distinguished by ineffective production of red blood cells and peculiar abnormalities in the precursors from which red blood cells arise. The identification of disease-causing mutations and CDA-associated genes is rapidly improving the accuracy of diagnosis, aided by the growing accessibility of next-generation sequencing. Currently, it is much easier to identify the morphological abnormalities and classify different CDA types; however, a range of suitable, experimentally tractable models is needed in order to understand the pathogenic mechanisms at the molecular level.

This review explains the basic concepts related to CDAs, covers different genetically modified mouse lines that are available for CDA researchers, and highlights the challenges inherent to modeling human disease in another species.

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