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Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly of
the production of erythroblasts, which are the precursors of the red blood cells (RBCs).〔http://www.enerca.org/anaemias/24/congenital-dyserythropoietic-anaemia-type-i〕
==Genetics==
CDA type I is transmitted by both parents autosomal recessively and usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations in at least one other gene can also cause this form of the disorder.〔http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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