This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe 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 (about 90% of the cases) and C150RF41 genes (about 1% of the cases). In about 9% of the cases no cause can be identified. It is inherited in an autosomal recessive pattern. Treatment involves medication such as interferon, and sometimes bone marrow transplant.
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