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P&S Journal

The P&S Journal: Spring 1998, Vol.18, No.2
Clinical Advances
Sickle Cell Disease

By Devera Pine

The Comprehensive Sickle Cell Center, one of only 10 NIH- sponsored centers in the country, is making progress against sickle cell disease on four fronts: basic research, clinical research, genetic counseling, and patient care. The center, which just completed its 15th year, received official approval for another five-year cycle. And starting in April, the center is a collaboration between investigators at P&S and Mount Sinai Medical Center.

The center capitalizes on Columbia's long history of researching and treating the disease, says Dr. Sergio Piomelli, the James A. Wolff Professor of Pediatrics, director of pediatric hematology, and director of the sickle cell center. For instance, the center's program for the prenatal diagnosis of sickle cell disease is the largest in the world, having made about 1,000 such diagnoses in its history. However, the program, which makes approximately 150 diagnoses a year, only touches on about 10 percent of the at-risk pregnancies in the New York area, says Dr. Piomelli. (Because many women do not realize that they and their partners carry the genes for sickle cell disease, they do not seek prenatal testing when they become pregnant.)

P&S also has been a leader in clinical research of sickle cell disease. For instance, P&S was the first center to use MRIs to identify patients who have had asymptomatic strokes, a condition that increases the likelihood of a stroke that causes serious complications. Stroke affects one out of 100 children with sickle cell anemia each year. It is most likely to hit between ages 4 and 7 and is a very serious complication. P&S scientists are now studying the factors that predispose patients to stroke, such as an abnormal coagulation system. Researchers also participated, in November 1997, in the multi-center Stroke Prevention in Sickle Cell Anemia trial, sponsored by the National Heart, Lung, and Blood Institute. The study found that regular blood transfusions can prevent stroke in patients with sickle cell anemia; in fact, the therapy was so effective that the study was stopped early. P&S researchers Drs. J.P. Mohr (neurology), a leader in the study of stroke using transcranial Doppler, and A. Hurlet (pediatric hematology) played a vital role in the study.

Clinical research in the sickle cell center also includes the neuropsychological evaluation of patients. Researchers have found that even when children with sickle cell disease have no outward symptoms, the disease affects their neuropsychological functioning.

P&S researchers are making progress in basic research, as well. In a study published in the Nov. 1, 1997, issue of Blood, researchers demonstrated for the first time the long-term transfer at high levels of expression of the normal human beta globin gene in an animal model (see Research Reports, P&S Journal, Winter 1998).

Studies of the crystal formation of sickle hemoglobin and of genetically engineered transgenic mice are also under way, as are experiments that look at the often-difficult navigation of sickle red blood cells through small blood vessels.

The sickle cell disease center is a leader in the care of patients with the disease, following nearly 1,000 patients.

The center is a collaboration on all levels, notes Dr. Piomelli-from basic and clinical researchers working side by side to physicians working together through a range of departments at P&S-medicine, pediatrics, genetics, neurology-and at Harlem Hospital and St. Luke's-Roosevelt Hospital Center.

copyright ©, 1996 Columbia-Presbyterian Medical Center

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