Dyserythropoietic Anemia, Congenital Type 2

Common Name(s)

Dyserythropoietic Anemia, Congenital Type 2

Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. 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 II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dyserythropoietic Anemia, Congenital Type 2" for support, advocacy or research.

Rare Anemias Foundation

The Rare Anemias Foundation was established to provide support and information to patients with rare anemias that do not fall into other anemia categories. The mission of the foundation is also to encourage research clinical trials on these rare types of anemias for curative purposes.

Last Updated: 10 Jun 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dyserythropoietic Anemia, Congenital Type 2" for support, advocacy or research.

Rare Anemias Foundation

The Rare Anemias Foundation was established to provide support and information to patients with rare anemias that do not fall into other anemia categories. The mission of the foundation is also to encourage research clinical trials on these rare types of anemias for curative purposes.

http://www.rareanemias.org

Last Updated: 10 Jun 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dyserythropoietic Anemia, Congenital Type 2" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dyserythropoietic Anemia, Congenital Type 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.