Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.
The congenital dyserythropoietic anemias are rare recessive disorders characterized by erythroblast multinuclearity, ineffective erythropoiesis, anemia and iron overload. In this perspective article, Drs. Iolascon and Delaunay examine genetic and clinical aspects of these inherited disorders.
Iolascon
Achille
A
Delaunay
Jean
J
D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000235:genetics* / Q000473:pathology; D050687:E2F1 Transcription Factor / Q000235:genetics / Q000378:metabolism; D050982:GATA1 Transcription Factor / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins; D011485:Protein Binding
C470477:CDAN1 protein, human; D050687:E2F1 Transcription Factor; C493753:E2F1 protein, human; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D006023:Glycoproteins; D009687:Nuclear Proteins