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Genetic Research Offers Hope Against Sickle Cell Disease

Despite some progress, much work remains in fight against blood disorder

By Dennis Thompson
HealthDay Reporter


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THURSDAY, Oct. 12 (HealthDay News) -- Normal red blood cells are smooth and round, resembling a doughnut without a hole, which allows them to slide easily through the body. But your red cells are shaped like a sickle, a quarter-moon. They're hard and sticky and tend to clump together, blocking the flow of blood and vital oxygen to limbs and organs.

Sickle cell disease is the most common inherited blood disorder in the United States, affecting more than 72,000 Americans, many of them black, according to Dr. Willarda V. Edwards, president of the Sickle Cell Disease Association of America.

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The lifelong disease causes excruciating pain, as blood flow is cut off to tissues and major organs. Stroke is common, particularly in children, and sickle cell also leaves sufferers vulnerable to infection. Victims also struggle from anemia.

A diagnosis of sickle cell used to be a child's death knell, with most dying before they hit their 20s. There still is no cure, but people who contract the disease now can live into their 40s, 50s or even longer, Edwards said.

"With the newest treatment, we've doubled the lifespan of people with sickle cell," Edwards said. "The key here is we're improving the quality of their life due to improved treatment, improved testing and better awareness."

Early detection is the first and best defense against sickle-cell disease. Forty-four states currently test all newborns for sickle cell anemia, a simple blood test that's done as part of other routine newborn screens, according to the National Heart, Lung, and Blood Institute.

The families of most Americans who are affected come from Africa, according to the National Institutes of Health. About one in every 600 black births results in sickle cell disease. But, about one in every 1,000 to 1,400 Hispanic-American births produces a sickle cell diagnosis, according to the NHLBI.

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Copyright © 2006 ScoutNews LLC. All rights reserved.
Last updated 10/12/2006

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SOURCES: Willarda V. Edwards, M.D., president, Sickle Cell Disease Association of America, Baltimore; Ann Earles, R.N., registered nurse, and director and chairwoman, the International Association of Sickle Cell Nurses and Physician Assistants; U.S. National Institutes of Health


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