Congenital dyserythropoietic anemia type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
CDAN2; Anemia, dyserythropoietic, congenital type 2; CDA II;
Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
Yellowing of the skin
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|Reduced level of N-acetylglucosaminyltransferase II||0003655|
Increased immature red blood cells
Increased number of immature red blood cells
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Increased spleen size
Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen. Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required.
The National Heart, Lung, and Blood Institute offers tips for living with
Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection. People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The diagnosis of CDA should be considered following exclusion of other causes of hemolytic anemias (especially hereditary spherocytosis), acquired dyserythropoiesis (myelodysplastic syndromes, acute erythroid leukemia) and microcytic anemias (thalassemias or iron deficiency anemias) (see these terms). Gilbert syndrome (see this term) and infections should be also excluded.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Congenital dyserythropoietic anemia type 2. 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.
- 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 2. Click on the link to view a sample search on this topic.
- Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia.
- Fernandez, M. Congenital dyserythropoietic anemia type II. Orphanet. September 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98873.
- Renella R, Wood WG. The congenital dyserythropoietic anemias. Hematol Oncol Clin North Am. 2009 Apr; 23(2):283-306. Accessed 6/25/2015.
- Renella R. Progress in the congenital dyserythropoietic anemias: juicy but high-hanging fruits?. Am J Hematol. 2010 Dec; 85(12):913-4. Accessed 6/25/2015.
- Unal S. Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. Pediatr Transplant. 2014 Jun; 18(4):E130-3. Accessed 6/25/2015.
- Braun M. Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation. Pediatr Blood Cancer. 2014 Apr; 61(4):743-5. Accessed 6/25/2015.