Surf Wiki
Save to docs
general/anemias

From Surf Wiki (app.surf) — the open knowledge base

Congenital dyserythropoietic anemia type III

Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multinucleate erythroblasts. New evidence suggests that this may be passed on recessively as well.

Presentation

The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma).

Genetics

CDA type III is transmitted autosomal dominantly. The genetic cause of CDA type III is known to be a problem with the KIF23 gene, located on the long arm of chromosome 15 at a position designated 15q22.

TypeOMIMGeneLocus
CDAN3{{OMIM105600none}}KIF23

Treatment

Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy.

References

References

  1. [https://archive.today/20120709161131/http://hmg.oxfordjournals.org/content/4/1/109.abstract Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25]
  2. [https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/ congenital dyserythropoietic anemia] - Genetic Home References
Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

anemias
Want to explore this topic further?

Ask Mako anything about Congenital dyserythropoietic anemia type III — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report