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.
The treatment options
Common questions
How is Aase syndrome treated?
Care targets two things: the anemia and the bone differences. If your child has severe anemia as an infant, treatment usually starts with red blood cell transfusions, followed by a trial of a corticosteroid such as prednisone, which helps the marrow make red cells so transfusions can be reduced or stopped. Children on regular transfusions are checked for iron overload and may need iron chelation medicine. A stem cell transplant is an option when the anemia does not respond to steroids. Thumb and arm differences, such as triphalangeal thumbs, are treated with occupational therapy and reconstructive hand surgery. A pediatric hematologist and a geneticist should guide the plan.