Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 Sep 26;122(13):2162-6.
doi: 10.1182/blood-2013-05-468223. Epub 2013 Aug 12.

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

Achille Iolascon  1 , Hermann Heimpel, Anders Wahlin, Hannah Tamary
Affiliations
Review

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

Achille Iolascon et al. Blood. .

Abstract

The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis, whereas the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factor genes (KLF1 and GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Pathognomonic marrow erythroblasts. The BM erythroblasts morphology (light microscopy) of different types of CDA is shown. See Table 1 for the description.
See this image and copyright information in PMC

References

    1. Heimpel H, Wendt F. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. Helv Med Acta. 1968;34(2):103–115. - PubMed
    1. Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol. 2005;131(4):431–446. - PubMed
    1. Dgany O, Avidan N, Delaunay J, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002;71(6):1467–1474. - PMC - PubMed
    1. Schwarz K, Iolascon A, Verissimo F, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41(8):936–940. - PubMed
    1. Liljeholm M, Irvine AF, Vikberg AL, et al. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood. 2013;121(23):4791–4799. - PubMed

Publication types

MeSH terms