Congenital dyserythropoietic anemia type IV
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| Congenital dyserythropoietic anemia type IV | |
|---|---|
| Specialty | Hematology  |
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
[edit]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
[edit]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 | 613673 | KLF1 | 19p13.13-p13.12 |
Diagnosis
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (December 2017) |
Treatment
[edit]Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy.
See also
[edit]References
[edit]- ^ "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation". Archived from the original on 2012-07-09. Retrieved 2011-09-26.
- ^ Lanzkowsky, Philip (2005-06-06). Manual of Pediatric Hematology and Oncology - Google Books. Academic Press. ISBN 9780123751553. Archived from the original on 2019-12-17. Retrieved 2015-05-06.
- ^ "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV; CDAN4". Omim.org. Retrieved 6 May 2015.
Further reading
[edit]- Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference]