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 multlnucleate erythroblasts.^[1]

Congenital dyserythropoietic anemia type III
Classification and external resources
ICD-10	D64.4
ICD-9	285.8

Genetics

CDA type III is transmitted autosomal dominantly. The genetic cause of CDA type III has not been identified. It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition.^[2]

Type	OMIM	Gene	Locus
CDAN3	105600	CDAN3	15q21

Description

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).^[3]

Treatment

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

See also

• Congenital dyserythropoietic anemia
• Thalassemia
• Hemoglobinopathy
• List of hematologic conditions

References

1. ^ http://hmg.oxfordjournals.org/content/4/1/109.abstract
2. ^ http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia
3. ^ http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia

External links

• Sandstrom entry on Congenital Dyserythropoietic Anemia Type III
• Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference