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Genetic and Rare Diseases Information Center (GARD)

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Congenital dyserythropoietic anemia type 2


Other Names for this Disease

  • Anemia, dyserythropoietic, congenital type 2
  • CDA II
  • CDAN2
  • Dyserythropoietic anemia, HEMPAS type
  • HEMPAS anemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have this blood disease and was reading an article stating that if I were to have kids, I would be transfusion dependent. How else would it affect my body? Would I have increased risk of liver and heart problems? I also had a splenectomy and cholesysectomy, would that put me at a higher risk for infections and diseases?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is congenital dyserythropoietic anemia 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.[1][2]
Last updated: 2/12/2014

What are the signs and symptoms of congenital dyserythropoietic anemia type II?

The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. 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. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary.[1][2]
Last updated: 2/12/2014

I've had a splenectomy and cholesysectomy (gall bladder removal), am I at higher risk for infections and diseases?

All post-splenectomy patients have an increased risk of developing a bacterial infection. We strongly recommend you discuss your concerns with your medical provider. To read more information about the risks associated with splenectomy and gallbladder removal, please visit the following links. http://www.nlm.nih.gov/medlineplus/ency/article/002944.htm and http://www.nlm.nih.gov/medlineplus/ency/article/002930.htm
Last updated: 2/12/2014

References
Other Names for this Disease
  • Anemia, dyserythropoietic, congenital type 2
  • CDA II
  • CDAN2
  • Dyserythropoietic anemia, HEMPAS type
  • HEMPAS anemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.