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Diseases

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.

Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Anemia of inadequate production -
Autosomal recessive inheritance -
Cholelithiasis -
Endopolyploidy on chromosome studies of bone marrow -
Jaundice -
Reduced activity of N-acetylglucosaminyltransferase II -
Reticulocytosis -
Splenomegaly -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 5/23/2012.
  2. Fernandez, M. Congenital dyserythropoietic anemia type II. Orphanet. September 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98873. Accessed 2/12/2014.


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.