[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki8\/congenital-dyserythropoietic-anemia-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki8\/congenital-dyserythropoietic-anemia-wikipedia\/","headline":"Congenital dyserythropoietic anemia – Wikipedia","name":"Congenital dyserythropoietic anemia – Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Red blood cell disorder Medical condition after-content-x4 Congenital dyserythropoietic anemia (CDA) is a","datePublished":"2019-06-15","dateModified":"2019-06-15","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki8\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki8\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/4\/4e\/Human_male_karyotpe_high_resolution_-_Chromosome_15_cropped.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/4\/4e\/Human_male_karyotpe_high_resolution_-_Chromosome_15_cropped.png","height":"89","width":"73"},"url":"https:\/\/wiki.edu.vn\/en\/wiki8\/congenital-dyserythropoietic-anemia-wikipedia\/","wordCount":5228,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Red blood cell disorderMedical condition       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Congenital 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.  Table of ContentsSigns and symptoms[edit]Diagnosis[edit]Treatment[edit]Gene therapy[edit]See also[edit]References[edit]Further reading[edit]External links[edit]Signs and symptoms[edit]The symptoms and signs of congenital dyserythropoietic anemia are consistent with:[2]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Congenital 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.Diagnosis[edit]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[edit]  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\u20133 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\u00a0g\/dl and 11.0\u00a0g\/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\u00a0ng\/ml,[18] hematologists generally do not begin chelation therapy until ferritin levels reach at least 1000\u00a0ng\/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[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).[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[edit]References[edit]^ a b RESERVED, INSERM US14 — ALL RIGHTS. “Orphanet: Congenital dyserythropoietic anemia”. www.orpha.net. Retrieved 2 January 2018.^ a b c “CDA”. Genetics Home Reference. 2016-01-25. Retrieved 2016-01-29.^ “Congenital dyserythropoietic anemia – Conditions – GTR – NCBI”. www.ncbi.nlm.nih.gov. Retrieved 2 January 2018.^ 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.\u00a0994. ISBN\u00a09781469846224.^ 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\u00a020301759.^ 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\u201394. doi:10.3324\/haematol.2012.072207. PMC\u00a03590084. PMID\u00a023065504.{{cite journal}}:  CS1 maint: multiple names: authors list (link) ^ 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.^ Lanzkowsky, Philip (2005-06-06). Manual of Pediatric Hematology and Oncology. Academic Press. p.\u00a0159. ISBN\u00a09780123751553.^ a b RESERVED, INSERM US14 — ALL RIGHTS. “Orphanet: Congenital dyserythropoietic anemia type IV”. www.orpha.net. Retrieved 2016-01-29.^ “Congenital dyserythropoietic anemia, type I – Conditions – GTR – NCBI”. www.ncbi.nlm.nih.gov. Retrieved 2016-01-29.^ “Congenital dyserythropoietic anemia, type II – Conditions – GTR – NCBI”. www.ncbi.nlm.nih.gov. Retrieved 2016-01-29.^ “Congenital dyserythropoietic anemia, type III – Conditions – GTR – NCBI”. www.ncbi.nlm.nih.gov. Retrieved 2016-01-29.^ “Congenital dyserythropoietic anemia type 2 | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) \u2013 an NCATS Program”. rarediseases.info.nih.gov. Retrieved 2016-01-29.^ a b “Iron Overload. Medical information about Iron Overload | Patient”. Patient. Retrieved 2016-01-29.^ 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\u20134581. doi:10.1182\/blood-2003-02-0613. ISSN\u00a00006-4971. PMID\u00a012933587. S2CID\u00a01553686.^ 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\u20131794. doi:10.3324\/haematol.2012.072207. PMC\u00a03590084. PMID\u00a023065504.^ 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\u2013920. doi:10.1016\/j.bbadis.2008.12.005. PMID\u00a019150496.^ “Ferritin: Reference Range, Interpretation, Collection and Panels”. 2018-07-05. ^ “Monitoring Treatment | Treatment and Management | Training & Education | Hemochromatosis (Iron Storage Disease) | NCBDDD | CDC”. www.cdc.gov. Retrieved 2016-01-29.^ “Gene Therapy is ‘Becoming a Clinical Reality’“.^ “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\u00a09781469846224.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\u20131260. doi:10.1182\/blood.V98.4.1258. ISSN\u00a00006-4971. PMID\u00a011493480.External links[edit]     (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki8\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki8\/congenital-dyserythropoietic-anemia-wikipedia\/#breadcrumbitem","name":"Congenital dyserythropoietic anemia – Wikipedia"}}]}]