Congenital dyserythropoietic anemia type 2

Title

Other Names:

CDAN2; Anemia, dyserythropoietic, congenital type 2; CDA II; CDAN2; Anemia, dyserythropoietic, congenital type 2; CDA II; Dyserythropoietic anemia, HEMPAS type; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test; CDA type II; Congenital dyserythropoietic anemia type II; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders

Summary Summary

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

Symptoms Symptoms

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 (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

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: 9/1/2016

Treatment Treatment

The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload.^[3] Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's.^[3] If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy.^[3] An alternative treatment is chelation therapy.^[3]^[4] In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L.^[3] The Iron Disorders Institute provides information on chelation therapy through their Web site at:
http://www.irondisorders.org/chelation-therapy

Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms.^[4] 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 hemolytic anemia at the following link:
http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith

Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values.^[3] 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.

Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2.^[3]^[4]^[5]^[6]

Last updated: 6/25/2015

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 - 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: enerca@enerca.org
Website: http://www.enerca.org
Iron Disorders Institute Inc.
P.O. Box 675
Taylors, SC 29687
Fax: 864-292-1878
E-mail: info@irondisorders.org
http://www.irondisorders.org/

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

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.

Where to Start

Genetics Home Reference (GHR) contains information on Congenital dyserythropoietic anemia type 2. This website is maintained by the National Library of Medicine.

In-Depth Information

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer

References References

Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 12/10/2015.
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.
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.