Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

A Iolascon, H Heimpel, A Wahlin… - Blood, The Journal of …, 2013 - ashpublications.org
Blood, The Journal of the American Society of Hematology, 2013ashpublications.org
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 …
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.
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