How is Aase syndrome treated?
Last updated September 6, 2026.
Aase syndrome is treated by managing the low red blood cell count, usually with transfusions and corticosteroids, and by treating the hand and arm differences with therapy or surgery. The anemia is the part that needs attention first, and it is often most severe in the first year of life. Many children respond to a steroid such as prednisone, which lets the bone marrow produce more red cells so transfusions can be spaced out or stopped. Children who stay on regular transfusions build up extra iron and need blood tests to track it, plus chelation medicine to remove it. A stem cell transplant is considered when the anemia does not respond to medicine. The anemia often becomes milder as a child grows, but care is lifelong and should be led by a pediatric hematologist.
What to do
- Start with a hematologist: Ask your pediatrician for a referral to a pediatric hematologist, who directs transfusion and steroid decisions.
- Track the blood counts: Keep a record of hemoglobin and reticulocyte results so you can see whether the steroid is working.
- Watch iron levels: If your child receives repeated transfusions, ask about ferritin testing and whether chelation is needed.
- Do not stop steroids on your own: Prednisone has to be tapered under medical supervision, since stopping suddenly can cause a serious drop in blood pressure and energy.
- Plan hand care early: Ask about occupational therapy and a hand surgery consult so thumb function is addressed before school age.
- Ask about genetic counseling: A genetics visit clarifies the inheritance pattern and what it means for other children in the family.