Wikipedia

Congenital dyserythropoietic anemia

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.[2] CDA may be transmitted by both parents autosomal recessively or dominantly.[citation needed]

Congenital dyserythropoietic anemia
Other namesCDA[1]
CDA causes decrease in red blood cells.
SpecialtyHematology Edit this on Wikidata
SymptomsWeakness[2]
TypesCDA Type I, CDA Type II, CDA Type III, and CDA Type IV[1]
Diagnostic methodGenetic testing[3]
TreatmentBlood transfusions(also depends on which type)[4]
Chromosome 15 (KIF23)

Types

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Congenital dyserythropoietic anemia 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.[citation needed]

Type Symptoms Bone marrow morphology OMIM Gene Locus
Type I
(CDAN1) 		Moderate to severe macrocytic anemia (commonly in neonates as intrauterine growth retardation).[5] Erythroid precursors with incompletely divided erythroid cells held together with thin chromatin bridges.[6] Ia 224120 CDAN1 15q15
Ib 615631 C15ORF41 15q14
Type II
(CDAN2) 		Moderate anemia, splenomegaly, and hepatomegaly.[7] Binucleate and rare multinucleate polychromatic erythroblasts.[6] 224100 SEC23B 20p11.2
Type III
(CDAN3) 		Mild anemia and retinal degeneration.[7] Giant multinucleated erythroblasts.[6] 105600 KIF23 15q21
Type IV
(CDAN4) 		Severe anemia at birth.[8][9] 613673 KLF1 19p13.13-p13.12

Signs and symptoms

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The symptoms and signs of congenital dyserythropoietic anemia are consistent with:[2]

Diagnosis

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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[9]) according to the genetic testing registry.[citation needed]

Treatment

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Deferasirox

Treatment of individuals with CDA usually consist of frequent blood transfusions, but this can vary depending on the type that the individual has.[4] Patients report going every 2–3 weeks for blood transfusions.[citation needed]

In addition, they must undertake chelation therapy to survive;[13] either deferoxamine, deferasirox, or deferiprone to eliminate the excess iron that accumulates.[14] Removal of the spleen[15] and gallbladder[16] 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.[17] 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,[18] hematologists generally do not begin chelation therapy until ferritin levels reach at least 1000 ng/ml.[19] 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.[14]

Gene therapy

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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).[16][20]

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,[21]

See also

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References

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  1. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital dyserythropoietic anemia". www.orpha.net. Archived from the original on 3 January 2018. Retrieved 2 January 2018.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ a b c "CDA". Genetics Home Reference. 2016-01-25. Archived from the original on 2018-01-02. Retrieved 2016-01-29.
  3. ^ "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 27 May 2018. Retrieved 2 January 2018.
  4. ^ 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.
  5. ^ Tamary, Hannah; Dgany, Orly (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Congenital Dyserythropoietic Anemia Type I. Seattle (WA): University of Washington, Seattle. PMID 20301759. Archived from the original on 2019-12-17. Retrieved 2017-08-30.
  6. ^ a b c Iolascon A, Esposito MR, Russo R (2012). "Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach". Haematologica. 97 (12): 1786–94. doi:10.3324/haematol.2012.072207. PMC 3590084. PMID 23065504.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ a b Delaunay, Jean (2003). "Congenital dyserythropoietic anemia" (PDF). Orpha.net. Orphanet. Archived from the original (PDF) on 13 August 2017. Retrieved 29 January 2016.
  8. ^ Lanzkowsky, Philip (2005-06-06). Manual of Pediatric Hematology and Oncology. Academic Press. p. 159. ISBN 9780123751553.
  9. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital dyserythropoietic anemia type IV". www.orpha.net. Archived from the original on 2017-12-13. Retrieved 2016-01-29.{{cite web}}: CS1 maint: numeric names: authors list (link)
  10. ^ "Congenital dyserythropoietic anemia, type I - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2017-06-15. Retrieved 2016-01-29.
  11. ^ "Congenital dyserythropoietic anemia, type II - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2017-06-15. Retrieved 2016-01-29.
  12. ^ "Congenital dyserythropoietic anemia, type III - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2017-06-15. Retrieved 2016-01-29.
  13. ^ "Congenital dyserythropoietic anemia type 2 | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2016-02-05. Retrieved 2016-01-29.
  14. ^ a b "Iron Overload. Medical information about Iron Overload | Patient". Patient. Archived from the original on 2019-05-24. Retrieved 2016-01-29.
  15. ^ 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. S2CID 1553686.
  16. ^ 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.
  17. ^ 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. S2CID 5639545. Archived (PDF) from the original on 2019-09-02. Retrieved 2019-09-02.
  18. ^ "Ferritin: Reference Range, Interpretation, Collection and Panels". 2018-07-05. Archived from the original on 2016-03-05. Retrieved 2016-01-29.
  19. ^ "Monitoring Treatment | Treatment and Management | Training & Education | Hemochromatosis (Iron Storage Disease) | NCBDDD | CDC". www.cdc.gov. Archived from the original on 2016-01-15. Retrieved 2016-01-29.
  20. ^ "Gene Therapy is 'Becoming a Clinical Reality'". Archived from the original on 2015-12-26. Retrieved 2016-01-29.
  21. ^ "Launch of Stem Cell Therapy Trial Offers Hope for Patients with Inherited Blood Disorder". 16 July 2012. Archived from the original on 8 June 2020. Retrieved 29 July 2012.

Further reading

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