CDA Type I
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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).Congenital dyserythropoietic anaemia type I
- Enerca (''European Network for Rare and Congenital Anaemias'') website


Presentation

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.


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.congenital dyserythropoietic anemia
- Genetics Home Reference


Diagnosis

CDA type I is 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.


Treatment

Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy.


See also

*
Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) ...
*
Thalassemia Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin). Anemia can result ...
* Hemoglobinopathy *
List of hematologic conditions :''This is an incomplete list, which may never be able to satisfy certain standards for completion.'' There are many conditions of or affecting the human hematologic system—the biological system that includes plasma, platelets, leukocytes, and ...


References


Further reading


GeneReviews/NCBI/NIH/UW entry on Congenital Dyserythropoietic Anemia Type I

Congenital dyserythropoietic anemia
at the US National Institutes of Health Home Genetic Reference


External links

{{Medical resources , ICD10 = D64.4 , ICD9 = {{ICD9, 285.8 Genetic disorders with no OMIM Anemias