Congenital Dyserythropoietic Anemia (CDA)
What is congenital dyserythropoietic anemia?
Congenital dyserythropoietic anemia (CDA) is a group of conditions that result from the ineffective production of red blood cells. This leads to low quantities of red blood cells and hemoglobin.
There are multiple forms of this condition: Types 1-4, with type 4 being the most severe.
What are the symptoms of congenital dyserythropoietic anemia?
Common symptoms include:
- Enlarged spleen and/or liver
- Skeletal abnormalities
- Pale skin
What causes congenital dyserythropoietic anemia?
Each type of CDA is caused by a different genetic mutation. Type 1 is the result of an altered CDAN1 gene, which is inherited in an autosomal recessive pattern. Type 2 is caused by a mutated SEC23B gene, also inherited in an autosomal recessive pattern.
Researchers are still looking for the genetic cause of types 3 and 4. More research is needed for the cause of the first two types as well, as medical professionals are unsure as to how the mutations result in symptoms.
How is congenital dyserythropoietic anemia diagnosed?
A number of different tests will be used after a doctor identifies the characteristic symptoms of CDA. They may use blood tests, body iron measurements, bone marrow examinations, molecular testing, and serum bilirubin tests.
What are the treatments for congenital dyserythropoietic anemia?
Doctors will make a treatment plan based on the symptoms present and overall severity of one’s condition. Treatment options include apheresis, blood transfusions, surgery to remove the spleen or gallbladder, medications, and stem cell transplants.