There is currently no widely available cure for the disease. In cases where a patient's red blood cell count falls to a life-threatening level, blood transfusions may be needed. Bone marrow transplants have been used to treat some forms of the disease and have cured symptoms in some patients, but the transplant procedure can be risky and complex. Hydroxyurea has been used to help reduce some of the symptoms of the disease as well.
Managing symptoms is the key to helping patients live a normal life. Patients should understand the disease and their individual symptoms and track them closely, with the help of a hematologist, to understand what triggers them. Patients will need to see a hematologist at least twice a year and a primary care physician annually.
Because treatment relies on clear communication, patients should visit prospective doctors and choose a physician they are comfortable with. For patients on the brink of adulthood, it is best to get referrals while they are still being treated by a pediatrician.
A number of therapies are being developed. Stem cell treatment can cure the disease for some patients, while gene therapy holds potential for the future.