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March 19, 1982

Advances continue in sickle cell disease

JAMA. 1982;247(11):1540-1545. doi:10.1001/jama.1982.03320360008005

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Despite the fact that sickle cell disease has long been understood at the molecular level, there is insufficient knowledge about the natural history of the disease, and preventive or curative treatment has not been found. The disease afflicts about 50,000 Americans, mostly black, and thousands of Africans, Arabs, Indians, Greeks, and Italians.

Investigators at a recent scientific meeting reported progress on several fronts: a low-risk method for prenatally detecting the disease in all cases; a look, for the first time, at the behavior of sickle hemoglobin inside human RBCs; a method of drug delivery designed to minimize toxic side effects; and an ongoing study to characterize the clinical course of the disease.

Prenatal Detection  Using a restriction enzyme that, like all such enzymes, always cuts DNA in the same place (in this case a certain location on the β-globin gene), investigators at the University of California, San Francisco, can now