Scientific exploration: The gift that keeps giving

Dr. Susan Shurin - April 11, 2012

I was thrilled recently to hear from a former patient of mine who sent photos of his two young sons. John was born with thalassemia, an inherited blood disorder that causes ineffective production of red blood cells and severe hemolytic anemia. People with thalassemia need regular red cell transfusions, which causes them to develop iron overload, which in turn damages multiple organs, often leading to death from heart disease in adolescence or young adulthood.

John has lived with thalassemia for nearly 40 years. His story was recently featured in a newsletter published by the Cooley's Anemia Foundation. John has not let this blood disorder slow him down. He has taken a keen interest in physical fitness and in helping others improve their own fitness levels, and he is the proud father of two young boys.

As a pediatric hematologist at Case University Hospitals in Cleveland, I cared for John for about 20 years beginning in the late 1970s. As a second-year fellow at Children's Hospital Medical Center in Boston in 1975, I was assigned to manage the 14 transfusion-dependent patients with thalassemia major. Interacting with those families gave me a sense of urgency about the problem of transfusion-induced iron overload. Working with my mentor, David Nathan, and another fellow, Richard Propper, I developed a protocol to assess continuous subcutaneous infusion of desferroxamine, then approved only for acute iron intoxication. The effects were dramatic, and we finally had the first effective iron chelation therapy for transfused patients with thalassemia. Subsequent advances in routes and schedules of drug administration have fortunately been joined by the first effective oral iron chelators, and more are under development.

Chronic administration of desferrioxamine is very burdensome, and many people have difficulty adhering to the regimen. As a young adult, John began to appreciate that the quality and duration of his life depended upon his ability to maintain intensive chelation therapy. He became profoundly motivated and embarked on intensive intravenous chelation delivered through a port in his arm, which has kept his iron levels in check. John is an inspiration to me and to many people with thalassemia because he has completely taken charge of his own health and lives a rich and productive life, with a wife and two lovely sons. Thalassemia is a part, but in no way the center, of his life.

Scientific exploration and the research results it generates are a gift that keeps giving, but they require those who can benefit to embrace the possibilities. Cheers to John!