open access

Vol 53, No 1 (2022)
Review article
Submitted: 2021-06-16
Accepted: 2021-08-09
Published online: 2022-01-20
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Modeling congenital dyserythropoietic anemia in genetically modified mice

Ranju Kumari12, Piotr Kaźmierczak1
DOI: 10.5603/AHP.a2022.0003
·
Acta Haematol Pol 2022;53(1):26-38.
Affiliations
  1. Centre of New Technologies, University of Warsaw, Warsaw, Poland
  2. School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland

open access

Vol 53, No 1 (2022)
REVIEW ARTICLE
Submitted: 2021-06-16
Accepted: 2021-08-09
Published online: 2022-01-20

Abstract

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.

Abstract

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.

Get Citation

Keywords

congenital dyserythropoietic anemia, knockout mouse, erythropoiesis

About this article
Title

Modeling congenital dyserythropoietic anemia in genetically modified mice

Journal

Acta Haematologica Polonica

Issue

Vol 53, No 1 (2022)

Article type

Review article

Pages

26-38

Published online

2022-01-20

Page views

714

Article views/downloads

82

DOI

10.5603/AHP.a2022.0003

Bibliographic record

Acta Haematol Pol 2022;53(1):26-38.

Keywords

congenital dyserythropoietic anemia
knockout mouse
erythropoiesis

Authors

Ranju Kumari
Piotr Kaźmierczak

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