Abstract

SICKLE CELL DISEASE AND THALASsemia, inherited disorders of hemoglobin, constitute the most common genetic diseases in the world, and aggressive lifelong treatments are required for managing the anemia and other painful complications that accompany them. Yuet Wai Kan, MD, of the University of California, San Francisco, has led the way in the study and treatment of these diseases. In the mid-1970s, he discovered the genetic mutations in the and -globin genes that cause and -thalassemia, respectively. He also ushered in the era of genetic testing for diseases by discovering DNA analysis techniques for tracing the transmission of disease-causing genes in families. Kan has won many awards, most notably the Albert Lasker Clinical Medical Research Award in 1991. Today he continues to make contributions with his research on potential treatments for these diseases. JAMA recently spoke with him about his experiences and his thoughts regarding his field. JAMA: Why did you decide to study sickle cell anemia and thalassemia? Dr Kan: I spent a year in the biochemistry department at MIT [Massachusetts Institute of Technology] learning how to study proteins; then when I was a fellow in hematology at Royal Victoria Hospital at McGill University, I was asked to see a newborn baby who did not survive. It turned out that the baby had a severe form of -thalassemia, and that interested me. With these two backgrounds, I decided that I would like to study thalassemia. So in 1967, I started doing globin gene studies. JAMA: What scientific advances have most affected your work? Dr Kan: When I first entered the field, we were studying protein synthesis in various thalassemia syndromes and trying to classify the different types of these diseases. The greatest advances really came because of molecular biology. That really gave us a big jump in terms of progress. We were able to study the

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