Publication Date:
2013-09-27
Description:
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.
Keywords:
Free Research Articles, Red Cells, Iron, and Erythropoiesis, Blood Spotlight
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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