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2 studies provide insight into stroke risk and prevention in young sickle cell anemia patients
Date:12/6/2010

ic polymorphisms to stroke risk in sickle cell disease. Researchers compared the genetic makeup of 130 young sickle cell anemia (SCA) patients enrolled in the SWiTCH trial with 103 SCA patients enrolled in another study. The SWiTCH participants had suffered documented strokes while patients in the other trial had not.

Investigators validated the association between stroke risk and five single nucleotide polymorphisms (SNPs) in four genes. SNPs are small inherited variations in the makeup of particular genes and are sometimes used as markers of disease risk. "These findings reinforce earlier observations suggesting there is a genetic component to stroke risk in sickle cell anemia. We are now focusing on how these five SNPs might play a role in stroke development," said Flanagan, the poster's first author. Ware is the senior author.

Investigators also confirmed that the alpha-thalassemia trait is associated with a reduced stroke risk. Affected individuals carry two or three, rather than the usual four, genes for making one of the hemoglobin proteins needed to ferry oxygen throughout the body. Researchers reported no association between another inherited condition, G6PD deficiency, and strokes.

SWiTCH was a Phase III trial funded by the National Heart, Lung, and Blood Institute. Between October 2006 and April 2009, 133 children and adolescents ages 5 through 18 enrolled at one of 25 participating U.S. centers. All had a diagnosis of sickle cell anemia, had an average age of almost 13, had suffered at least one stroke and had undergone monthly blood transfusions for an average of seven years.

Sixty-six were randomly assigned to continue monthly transfusions and to take the drug deferasirox, or Exjade, daily to remove excess iron from their bodies. The remaining 67 patients were assigned to treatment with hydroxyurea daily for 30 months to reduce stroke risk and to undergo monthly blood removal to reduce iron buildup.

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Contact: Summer Freeman
summer.freeman@stjude.org
901-595-3061
St. Jude Children's Research Hospital
Source:Eurekalert

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