congenital dyserythropoietic anemia

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.{{cn|date=August 2024}}

The symptoms and signs of congenital dyserythropoietic anemia are consistent with:{{Cite web |date=2016-01-25 |title=CDA |url=http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia |url-status=live |archive-url=https://web.archive.org/web/20180102191510/https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia |archive-date=2018-01-02 |access-date=2016-01-29 |website=Genetics Home Reference}}

• Tiredness (fatigue)
• Weakness
• Pale skin

The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I,{{Cite web |title=Congenital dyserythropoietic anemia, type I - Conditions - GTR - NCBI |url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0271933/ |url-status=live |archive-url=https://web.archive.org/web/20170615234337/https://www.ncbi.nlm.nih.gov/gtr/conditions/C0271933/ |archive-date=2017-06-15 |access-date=2016-01-29 |website=www.ncbi.nlm.nih.gov}} II,{{Cite web |title=Congenital dyserythropoietic anemia, type II - Conditions - GTR - NCBI |url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C1306589/ |url-status=live |archive-url=https://web.archive.org/web/20170615231409/https://www.ncbi.nlm.nih.gov/gtr/conditions/C1306589/ |archive-date=2017-06-15 |access-date=2016-01-29 |website=www.ncbi.nlm.nih.gov}} III{{Cite web |title=Congenital dyserythropoietic anemia, type III - Conditions - GTR - NCBI |url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0271934/ |url-status=live |archive-url=https://web.archive.org/web/20170615234224/https://www.ncbi.nlm.nih.gov/gtr/conditions/C0271934/ |archive-date=2017-06-15 |access-date=2016-01-29 |website=www.ncbi.nlm.nih.gov}} and IV ( is a relatively new form of CDA that had been found, just 4 cases have been reported) according to the genetic testing registry.{{citation needed|date=October 2016}}

File:Deferasirox ball-and-stick model.png

Treatment of individuals with CDA usually consist of frequent blood transfusions, but this can vary depending on the type that the individual has.{{Cite book |last=Greer |first=John P. |url=https://books.google.com/books?id=NYCeAgAAQBAJ |title=Wintrobe's Clinical Hematology |last2=Arber |first2=Daniel A. |last3=Glader |first3=Bertil |last4=List |first4=Alan F. |last5=Means |first5=Robert T. |last6=Paraskevas |first6=Frixos |last7=Rodgers |first7=George M. |date=2013-08-29 |publisher=Lippincott Williams & Wilkins |isbn=9781469846224 |page=994 |language=en}} Patients report going every 2–3 weeks for blood transfusions.{{citation needed|date=February 2020}}

In addition, they must undertake chelation therapy to survive;{{Cite web |title=Congenital dyserythropoietic anemia type 2 {{!}} Disease {{!}} Treatment {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/gard/2001/congenital-dyserythropoietic-anemia-type-2/resources/8 |url-status=dead |archive-url=https://web.archive.org/web/20160205072740/https://rarediseases.info.nih.gov/gard/2001/congenital-dyserythropoietic-anemia-type-2/resources/8 |archive-date=2016-02-05 |access-date=2016-01-29 |website=rarediseases.info.nih.gov}} either deferoxamine, deferasirox, or deferiprone to eliminate the excess iron that accumulates.{{Cite web |title=Iron Overload. Medical information about Iron Overload {{!}} Patient |url=http://patient.info/doctor/iron-overload |url-status=live |archive-url=https://web.archive.org/web/20190524034049/https://patient.info/doctor/iron-overload |archive-date=2019-05-24 |access-date=2016-01-29 |website=Patient |language=en-GB}} Removal of the spleen{{Cite journal |last=Heimpel |first=Hermann |last2=Anselstetter |first2=Volker |last3=Chrobak |first3=Ladislav |last4=Denecke |first4=Jonas |last5=Einsiedler |first5=Beate |last6=Gallmeier |first6=Kerstin |last7=Griesshammer |first7=Antje |last8=Marquardt |first8=Thorsten |last9=Janka-Schaub |first9=Gritta |date=2003-12-15 |title=Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation |journal=Blood |language=en |volume=102 |issue=13 |pages=4576–4581 |doi=10.1182/blood-2003-02-0613 |issn=0006-4971 |pmid=12933587 |s2cid=1553686}} and gallbladder 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.{{Cite journal |last=Denecke |first=Jonas |last2=Marquardt |first2=Thorsten |date=2009-09-01 |title=Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now? |url=https://hal.archives-ouvertes.fr/hal-00517927/file/PEER_stage2_10.1016%252Fj.bbadis.2008.12.005.pdf |url-status=live |journal=Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease |series=Genetic Glycosylation Diseases |volume=1792 |issue=9 |pages=915–920 |doi=10.1016/j.bbadis.2008.12.005 |pmid=19150496 |s2cid=5639545 |archive-url=https://web.archive.org/web/20190902070309/https://hal.archives-ouvertes.fr/hal-00517927/file/PEER_stage2_10.1016%25252Fj.bbadis.2008.12.005.pdf |archive-date=2019-09-02 |access-date=2019-09-02}} 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,{{Cite web |date=2018-07-05 |title=Ferritin: Reference Range, Interpretation, Collection and Panels |url=http://emedicine.medscape.com/article/2085454-overview |url-status=live |archive-url=https://web.archive.org/web/20160305173156/http://emedicine.medscape.com/article/2085454-overview |archive-date=2016-03-05 |access-date=2016-01-29}} hematologists generally do not begin chelation therapy until ferritin levels reach at least 1000 ng/ml.{{Cite web |title=Monitoring Treatment {{!}} Treatment and Management {{!}} Training & Education {{!}} Hemochromatosis (Iron Storage Disease) {{!}} NCBDDD {{!}} CDC |url=https://www.cdc.gov/ncbddd/hemochromatosis/training/treatment/monitoring_treatment.html |url-status=live |archive-url=https://web.archive.org/web/20160115193559/http://www.cdc.gov/ncbddd/hemochromatosis/training/treatment/monitoring_treatment.html |archive-date=2016-01-15 |access-date=2016-01-29 |website=www.cdc.gov}} 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.

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|date=January 2016}}

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).{{Cite journal |last=Iolascon |first=A. |last2=Esposito |first2=M. R. |last3=Russo |first3=R. |date=2012-12-01 |title=Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach |journal=Haematologica |language=en |volume=97 |issue=12 |pages=1786–1794 |doi=10.3324/haematol.2012.072207 |pmc=3590084 |pmid=23065504}}{{Cite web |title=Gene Therapy is 'Becoming a Clinical Reality' |url=http://www.medscape.com/viewarticle/856103 |url-status=live |archive-url=https://web.archive.org/web/20151226230029/http://www.medscape.com/viewarticle/856103 |archive-date=2015-12-26 |access-date=2016-01-29}}

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,{{Cite web |date=16 July 2012 |title=Launch of Stem Cell Therapy Trial Offers Hope for Patients with Inherited Blood Disorder |url=http://www.mskcc.org/blog/launch-stem-cell-therapy-trial-offers-hope-patients-inherited-blood-disorder |url-status=live |archive-url=https://web.archive.org/web/20200608191444/http://www.mskcc.org/blog/launch-stem-cell-therapy-trial-offers-hope-patients-inherited-blood-disorder |archive-date=8 June 2020 |access-date=29 July 2012}}

• Thalassemia
• List of hematologic conditions

{{Reflist}}

• {{Cite book |last=Greer |first=John P. |url=https://books.google.com/books?id=NYCeAgAAQBAJ |title=Wintrobe's Clinical Hematology |last2=Arber |first2=Daniel A. |last3=Glader |first3=Bertil |last4=List |first4=Alan F. |last5=Means |first5=Robert T. |last6=Paraskevas |first6=Frixos |last7=Rodgers |first7=George M. |date=2013-08-29 |publisher=Lippincott Williams & Wilkins |isbn=9781469846224 |language=en}}
• {{Cite journal |last=Iolascon |first=Achille |last2=Delaunay |first2=Jean |last3=Wickramasinghe |first3=Sunitha N. |last4=Perrotta |first4=Silverio |last5=Gigante |first5=Maddalena |last6=Camaschella |first6=Clara |date=2001-08-15 |title=Natural history of congenital dyserythropoietic anemia type II |journal=Blood |language=en |volume=98 |issue=4 |pages=1258–1260 |doi=10.1182/blood.V98.4.1258 |issn=0006-4971 |pmid=11493480 |doi-access=free}}

{{Medical resources

| DiseasesDB =

| ICD11 = {{ICD11|3A73}}

| ICD10 = {{ICD10|D|64|4|d|64}}

| ICD9 = {{ICD9|285.8}}

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| MeshID = D000742

| Orphanet = 85

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{{Diseases of RBCs}}

Category:Genetic disorders with no OMIM

Category:Red blood cell disorders

Category:Anemias