Congenital dyserythropoietic anemia type 1
Other Names for this Disease
- CDA I
- Dyserythropoietic anemia, congenital type 1
- Anemia, dyserythropoietic, 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 and C150RF41 genes. It is inherited in an autosomal recessive pattern. Treatment involves medication like interferon and sometimes bone marrow transplant and removal of the spleen.Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe
Last updated: 12/10/2015
- Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 12/10/2015.
- Congenital Dyserythropoietic Anemia Type I. Orphanet. September, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98869. Accessed 12/10/2015.
- Tamary H & Dgany O. Congenital Dyserythropoietic Anemia Type I. GeneReviews. February 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK5313/. Accessed 12/10/2015.
- Genetics Home Reference (GHR) contains information on Congenital dyserythropoietic anemia type 1. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Congenital dyserythropoietic anemia type Ia
Congenital dyserythropoietic anemia type Ib
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital dyserythropoietic anemia type 1. Click on the link to view a sample search on this topic.