Congenital dyserythropoietic anemia

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Congenital dyserythropoietic anemia
Other namesCDA[1]
Blausen 0761 RedBloodCells.png
CDA causes decrease in red blood cells
SpecialtyHematology Edit this on Wikidata
TypesCDA Type I, CDA Type II, CDA Type III, and CDA Type IV[1]
Diagnostic methodGenetic testing[2]
TreatmentBlood transfusions(also depends on which type)[3]

Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.[4]

Signs and symptoms[edit]

The symptoms and signs of congenital dyserythropoietic anemia are consistent with:[4]


CDA may be transmitted by both parents autosomal recessively or dominantly and has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV . CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. More than 300 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease.[5][4]

Chromosome 15(KIF23)
Type OMIM Gene Locus
CDAN1 224120 CDAN1 (gene) 15q15[6]
CDAN2 224100 SEC23B 20p11.2[7]
CDAN3 105600 KIF23 15q21[8]
CDAN4 613673 KLF1 19p13.13-p13.12[9]


The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I,[10] II,[11] III[12] and IV ( is a relatively new form of CDA that had been found, just 4 cases have been reported[13]) according to the genetic testing registry.[citation needed]




Treatment of individuals with CDA usually consist of frequent blood transfusions, but this can vary depending on the type that the individual has.[3] Patients report going every 2–3 weeks for blood transfusions.[9] In addition, they must undertake chelation therapy to survive;[17] either deferoxamine, deferasirox, or deferiprone to eliminate the excess iron that accumulates.[18] Removal of the spleen[19] and gallbladder[20] are common. Hemoglobin levels can run anywhere between 8.0 g/dl and 11.0 g/dl in untransfused patients, the amount of blood received by the patient is not as important as their baseline pre-transfusion hemoglobin level.[21] This is true for ferritin levels and iron levels in the organs as well, it is important for patients to go regularly for transfusions in order to maximize good health, normal ferritin levels run anywhere between 24 and 336 ng/ml,[22] hematologists generally do not begin chelation therapy until ferritin levels reach at least 1000 ng/ml.[23] It is more important to check iron levels in the organs through MRI scans, however, than to simply get regular blood tests to check ferritin levels, which only show a trend, and do not reflect actual organ iron content.[18]

Gene therapy[edit]

Gene therapy, as well as, bone marrow transplant are also possible treatments for the disorder, but each have their own risks at this point in time. Bone marrow transplantation is the more used method between the two, whereas researchers are still trying to definitively establish the results of gene therapy treatment. It generally requires a 10/10 HLA matched donor, however, who is usually a sibling. As most patients do not have this, they must rely on gene therapy research to potentially provide them with an alternative.[medical citation needed] CDA at both clinical and genetic aspects are part of a heterogeneous group of genetic conditions. Gene therapy is still experimental and has largely only been tested in animal models until now. This type of therapy has promise, however, as it allows for the autologous transplantation of the patient's own healthy stem cells rather than requiring an outside donor, thereby bypassing any potential for graft vs. host disease (GVHD).[20][24]

In the United States, the FDA approved clinical trials on Beta thalassemia patients in 2012. The first study, which took place in July 2012, recruited human subjects with thalassemia major,[25]

See also[edit]


  1. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital dyserythropoietic anemia". Retrieved 2 January 2018.
  2. ^ "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". Retrieved 2 January 2018.
  3. ^ a b Greer, John P.; Arber, Daniel A.; Glader, Bertil; List, Alan F.; Means, Robert T.; Paraskevas, Frixos; Rodgers, George M. (2013-08-29). Wintrobe's Clinical Hematology. Lippincott Williams & Wilkins. p. 994. ISBN 9781469846224.
  4. ^ a b c "CDA". Genetics Home Reference. 2016-01-25. Retrieved 2016-01-29.
  5. ^ Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation
  6. ^ "Error 403".
  7. ^ "Error 403".
  8. ^ "Error 403".
  9. ^ a b "Error 403".
  10. ^ "Congenital dyserythropoietic anemia, type I - Conditions - GTR - NCBI". Retrieved 2016-01-29.
  11. ^ "Congenital dyserythropoietic anemia, type II - Conditions - GTR - NCBI". Retrieved 2016-01-29.
  12. ^ "Congenital dyserythropoietic anemia, type III - Conditions - GTR - NCBI". Retrieved 2016-01-29.
  13. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital dyserythropoietic anemia type IV". Retrieved 2016-01-29.
  14. ^ Tamary, Hannah; Dgany, Orly (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Congenital Dyserythropoietic Anemia Type I. Seattle (WA): University of Washington, Seattle. PMID 20301759.
  15. ^ a b Delaunay, Jean (2003). "Congenital dyserythropoietic anemia" (PDF). Orphanet. Retrieved 29 January 2016.
  16. ^ Lanzkowsky, Philip (2005-06-06). Manual of Pediatric Hematology and Oncology. Academic Press. p. 159. ISBN 9780123751553.
  17. ^ "Congenital dyserythropoietic anemia type 2 | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 2016-01-29.
  18. ^ a b "Iron Overload. Medical information about Iron Overload | Patient". Patient. Retrieved 2016-01-29.
  19. ^ Heimpel, Hermann; Anselstetter, Volker; Chrobak, Ladislav; Denecke, Jonas; Einsiedler, Beate; Gallmeier, Kerstin; Griesshammer, Antje; Marquardt, Thorsten; Janka-Schaub, Gritta (2003-12-15). "Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation". Blood. 102 (13): 4576–4581. doi:10.1182/blood-2003-02-0613. ISSN 0006-4971. PMID 12933587.
  20. ^ a b Iolascon, A.; Esposito, M. R.; Russo, R. (2012-12-01). "Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach". Haematologica. 97 (12): 1786–1794. doi:10.3324/haematol.2012.072207. PMC 3590084. PMID 23065504.
  21. ^ Denecke, Jonas; Marquardt, Thorsten (2009-09-01). "Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now?" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. Genetic Glycosylation Diseases. 1792 (9): 915–920. doi:10.1016/j.bbadis.2008.12.005. PMID 19150496.
  22. ^ "Ferritin: Reference Range, Interpretation, Collection and Panels". 2018-07-05. Cite journal requires |journal= (help)
  23. ^ "Monitoring Treatment | Treatment and Management | Training & Education | Hemochromatosis (Iron Storage Disease) | NCBDDD | CDC". Retrieved 2016-01-29.
  24. ^ "Gene Therapy is 'Becoming a Clinical Reality'".
  25. ^ "Launch of Stem Cell Therapy Trial Offers Hope for Patients with Inherited Blood Disorder".

Further reading[edit]

  • Greer, John P.; Arber, Daniel A.; Glader, Bertil; List, Alan F.; Means, Robert T.; Paraskevas, Frixos; Rodgers, George M. (2013-08-29). Wintrobe's Clinical Hematology. Lippincott Williams & Wilkins. ISBN 9781469846224.
  • Iolascon, Achille; Delaunay, Jean; Wickramasinghe, Sunitha N.; Perrotta, Silverio; Gigante, Maddalena; Camaschella, Clara (2001-08-15). "Natural history of congenital dyserythropoietic anemia type II". Blood. 98 (4): 1258–1260. doi:10.1182/blood.V98.4.1258. ISSN 0006-4971. PMID 11493480.

External links[edit]

External resources