Aase Syndrome

Aase syndrome is a rare disorder that involves anemia and certain deformities in joints and skeleton.

Treatment

Treatment may involve blood transfusions in the first year of life to treat anemia.

A steroid-based drugs also called prednisone has been used to treat anemia associated with Aase syndrome. However, it should only be used after evaluating the benefits and risks with a doctor who specializes in treating anemia. A bone marrow transplant may be needed if other treatments have failed.

Perspectives

Anemia tends to improve with age.

Possible complications

Complications related to anemia include:

• Fatigue

• Decreased blood oxygen

• Weakness

Heart problems can lead to a variety of complications, depending on the specificity of the genetic defect. Severe cases of Aase syndrome are associated with stillbirth or early death.

Prevention

Genetic counseling is recommended if you have a history of family members with Aase syndrome and intend to become pregnant.