Cooley's Anemia, also known as Thalassemia Major, is a fatal genetic blood disease that results in the failure to produce sufficient hemoglobin, the oxygen-carrying component of blood cells.
There is no cure. To stay alive patients require frequent transfusions of red blood cells, as many as 52 pints of blood per year. These transfusions have a deadly side effect. Because there is no natural way for the body to eliminate iron, the iron in the transfused blood cells builds up and becomes toxic to tissues and organs, particularly the liver and heart.
To help remove excess iron, patients undergo the difficult and painful infusion of a drug, desferal. A needle is attached to a pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours. Desferal binds iron in a process called "chelation". Chelated iron is later eliminated, reducing the amount of stored iron. Compliance with Desferal is vital to long term survival.
Effective iron chelation improves the prognosis for patients. But, the long-term impact of high iron levels and multiple transfusions leads to the onset of secondary complications. Clinicians are working to treat diabetes, osteoporosis, endocrine dysfunction, hepatitis and blood viruses as well as cardiac disease and liver cirrhosis. At the same time, researchers are challenged by the need to deliver new methods to chelate iron and reach a better understanding of optimal transfusion levels and iron elimination.