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Genes Help Predict Sickle Cell Stroke Risk

It's a big improvement on current tests, researchers say

MONDAY, March 21, 2005 (HealthDay News) -- People with the blood disease sickle cell anemia are also at increased risk for stroke, but now researchers say they've developed a technique that uses genetic variations to assess that stroke risk in individual patients.

Variations in 12 genes interact with fetal hemoglobin level -- another prognostic indicator in sickle cell anemia -- to modulate stroke risk in these patients, explain researchers at Boston University School of Public Health.

Stroke is a major complication of sickle cell anemia. Currently, Transcranial Doppler (TCD) flow studies, which measure blood flow to the brain, are used to estimate stroke risk in people with sickle cell anemia. However, only 10 percent of patients with abnormal TCD suffer a stroke in the first year of observation and about 20 percent of patients with normal TCD will have a stroke, pointing to the inadequacy of this method in spotting those patients at highest risk.

Reporting in the March 20 issue of Nature, the Boston team tested their new method in a group of 114 patients. They found it had an overall predictive accuracy of 98.2 percent.

"This is an exciting step forward for researchers," lead investigator Paola Sebastiani said in a prepared statement.

More information

The Nemours Foundation has more about sickle cell anemia.

SOURCE: Boston University School of Medicine, press release, March 20, 2005
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