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Review
. 2005 Nov;131(4):431-46.
doi: 10.1111/j.1365-2141.2005.05757.x.

Advances in the understanding of the congenital dyserythropoietic anaemias

Sunitha N Wickramasinghe  1 , William G Wood
Affiliations
Free article
Review

Advances in the understanding of the congenital dyserythropoietic anaemias

Sunitha N Wickramasinghe et al. Br J Haematol. 2005 Nov.
Free article

Abstract

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.

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