Congenital Dyserythropoietic Anemia | Symptoms & Causes
What are the symptoms of congenital dyserythropoietic anemia?
The most common symptoms of congenital dyserythropoietic anemia (CDA) include:
- fatigue
- jaundice
- pale skin (pallor)
- enlarged spleen or liver
- formation of gallstones
- skeletal abnormalities, including missing fingers and toes
What are the causes of CDA?
Each of the four types of CDA is caused by a genetic defect and requires testing to isolate. It is important to understand that some symptoms of CDA may resemble those of other more common medical problems or other blood disorders. Because some of these symptoms can also point to other conditions, and because anemia itself can be a symptom of another medical problem, it’s important to have your child evaluated by a qualified medical professional for an accurate diagnosis and prompt treatment.
Congenital Dyserythropoietic Anemia | Diagnosis & Treatments
How is congenital dyserythropoietic anemia diagnosed?
Congenital dyserythropoietic anemia (CDA) is diagnosed with:
- blood tests, including a complete blood count
- bone marrow examination
- serum bilirubin test, which can determine the cause of jaundice and detect increased destruction of red blood cells
- body iron measurements (by laboratory testing, radiology/imaging and/or biopsy of the liver)
- molecular testing (gene sequencing, protein studies, etc).
After all tests are completed, your doctor will be able to outline the best treatment options.
What are the treatments for CDA?
Depending on the severity of the disease and the symptoms experienced by the patients, doctors treat CDA with:
- blood transfusions and apheresis
- medications, such as iron chelating agents or interferon alpha-2A (only in CDA type I)
- selected surgical procedures (removal of the spleen and/or gallbladder), when required
- stem cell transplant — the only definitive cure, available to patients with very severe CDA
Your care team will help determine the best approach for your child's unique situation, based on a number of factors including age and overall health, severity of the disease, and tolerance for certain medications or therapies.
What is the long-term outlook for children with CDA?
Because there is no definitive cure other than a hematopoietic stem cell transplant, children and adolescents with CDA require long-term follow-up to monitor for complications. Liver, hormonal (endocrine) and heart problems become increasingly important as patients grow older, due to the stress of low hemoglobin counts and high iron content.
