Congenital dyserythropoietic anemia

Definition:

Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid hematopoietic cell lineages are morphologically normal. Three types of the disease are known as type I, II and III, and there is also a huge group of congenital forms that cannot be included with any of the three canonical types.

References:

[1]. Achille Iolascon, et al. Congenital dyserythropoietic anaemias: new acquisitions. Blood Transfus. 2011 Jul;9(3):278-80. [Content Brief]

[2]. Achille Iolascon, et al. Congenital dyserythropoietic anemias. Curr Opin Hematol. 2011 May;18(3):146-51. [Content Brief]

[3]. Christian Babbs, et al. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica. 2013 Sep;98(9):1383-7. [Content Brief]

[4]. Klaus Schwarz, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009 Aug;41(8):936-40. [Content Brief]

[5]. Lionel Arnaud, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet. 2010 Nov 12;87(5):721-7. [Content Brief]

[6]. Maria Liljeholm, et al. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood. 2013 Jun 6;121(23):4791-9. [Content Brief]

[7]. Orly Dgany, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002 Dec;71(6):1467-74. [Content Brief]

[8]. Sandeep N Wontakal, et al. RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease. Blood. 2022 Mar 3;139(9):1413-1418. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.