Medicine:Congenital dyserythropoietic anemia type IV

From HandWiki
Congenital dyserythropoietic anemia type IV

Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a negative acidified-serum test.[1]

Presentation

CDA type IV is characterized by mild to moderate splenomegaly. Hemoglobin is very low and patients are transfusion dependent. MCV is normal or mildly elevated. Erythropoiesis is normoblastic or mildly to moderately megaloblastic. Nonspecific erythroblast dysplasia is present.[2]

Genetics

Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin.[3]

Type OMIM Gene Locus
CDAN4 Online Mendelian Inheritance in Man (OMIM) 613673 KLF1 19p13.13-p13.12

Diagnosis

Treatment

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

See also

References

  1. ↑ "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation". Archived from the original on 2012-07-09. https://archive.today/20120709115538/http://bloodjournal.hematologylibrary.org/content/102/13/4576.full.html. Retrieved 2011-09-26. 
  2. ↑ Lanzkowsky, Philip (2005-06-06). Manual of Pediatric Hematology and Oncology - Google Books. Academic Press. ISBN 9780123751553. https://books.google.com/books?id=f5C246w1ec4C&dq=cda+type+v&pg=PA161. Retrieved 2015-05-06. 
  3. ↑ "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV; CDAN4". Omim.org. http://omim.org/entry/613673. Retrieved 6 May 2015. 

Further reading

External links

Classification



Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Congenital_dyserythropoietic_anemia_type_IV&oldid=3268557"