Advances in the understanding of the congenital dyserythropoietic anaemias.
The congenital dyserythropoietic anaemias (CDAs) are a heterogeneous group of diseases in which the anaemia is predominantly caused by dyserythropoiesis and marked ineffective erythropoiesis; three major (types I, II and III) and several minor subgroups have been identified. Additional information on the natural history of these conditions, the beneficial role of splenectomy in CDA type II and efficacy of interferon-alpha in type I have recently been reported. A disease gene has been localised to a chromosomal segment in the three major types and in CDA type I, a disease gene has been identified (CDANI). Mutations have been detected in both familial and sporadic cases but the predicted protein structure gives few clues as to its function. In both type I and II, there are cases unlinked to the identified localisations, suggesting genetic heterogeneity.
Wickramasinghe
Sunitha N
SN
Nuffield Department of Clinical Laboratory Sciences, University of Oxford, Oxford, UK. s.wickramasinghe@imperial.ac.uk
Wood
William G
WG
D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D001853:Bone Marrow / Q000473:pathology; D003937:Diagnosis, Differential; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins
C470477:CDAN1 protein, human; D006023:Glycoproteins; D009687:Nuclear Proteins