• Article
  • January 13, 2014

Blood Disease Researcher Hopes to Make Life Better for Others

While living with a chronic blood disease, a researcher hopes to help improve quality of life for others.

By Robert Mannino 

I have ß-thalassemia major, a genetic and chronic blood disease characterized by abnormal red blood cell production, resulting in severe anemia. I’ve spent a lot of time in the hospital throughout my life and deal with numerous medical devices, diagnostics and therapies. The only available treatment is to receive a blood transfusion every three weeks while undergoing blood tests such as complete blood counts (CBCs) and ironlevel measurements on a regular basis to monitor my disease and the effects of my transfusions. Each transfusion is an ordeal, requiring me to miss an entire day of school or work. Although the treatment is time consuming, if it weren’t for prior research in this area, patients with ß-thalassemia major like me and my younger brother Kevin, would not be expected to live past childhood. I’ve seen what medical innovation can do to improve the life of a patient. 

In patients undergoing chronic transfusion therapy, excess iron accumulates because of the blood transfusions and needs to be removed (chelated) on a regular basis. Only 10 years ago, medicine to perform this chelation needed to be injected subcutaneously overnight. This meant wearing a pump to bed every evening and sleeping in the same position to minimize discomfort and bruising from the continuous injection. Over the last 10 years, I’ve watched the infusion pump shrink until, finally, a pill form of chelation therapy became available. 

My experience and the treatment I received at the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta inspired my interest in science. I decided to devote my life to understanding the disease that afflicts me, and I want to help others who have it. I found a research opportunity in the bioengineering hematology lab of Wilbur Lam, M.D., Ph.D.—affiliated with Emory University, Children’s Healthcare of Atlanta and Georgia Institute of Technology—conducting research on inherited blood disorders similar to mine. Over the last two years, I’ve led and worked on research projects where I developed tools to diagnose and research the pathophysiology of sickle cell disease. The disease interests me because the mutation causing it is similar to ß-thalassemia major. 

My goal is to use my degree and the skills I attain in graduate school to become a biomedical engineer, translating research into new diagnostics and therapies for blood diseases. I hope to focus on developing new tools to study hemoglobin diseases and to improve patient outcomes. 

Robert Mannino is a graduate of Georgia Institute of Technology and a researcher who is pursuing a Ph.D. in biomedical engineering.

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