Congenital dyserythropoietic anemia type 1
Other Names for this Disease
- Anemia, dyserythropoietic, congenital type 1
- CDA I
- Dyserythropoietic anemia, congenital type 1
- Type I congenital dyserythropoietic anemia
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anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from mutations in the CDAN1 gene. It is inherited in an autosomal recessive pattern.Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe
Last updated: 5/23/2012
- Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 5/23/2012.
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