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Gene variant discovery could save blood in surgery

Bleeding after cardiac surgery is a major clinical problem, consuming up to 20 percent of the nations blood supply. Despite some understanding of the risk factors that contribute to increased blood loss, there is still considerable patient-to-patient variability, said Dr. Brian S. Donahue, assistant professor of Anesthesiology at Vanderbilt University Medical Center.

Donahue and colleagues are the first to show that a common genetic variation contributes to a patients tendency to suffer bleeding complications. The investigators report Feb. 25 in Circulation that cardiac surgery patients who have a different genetic form of one clotting factor lose less blood and are less likely to receive blood transfusions.

The findings herald a new era in medicine, one in which therapies will be customized for individual patients, based in part on the genes they carry. That is the hope anyway, Donahue said. If we can outline a patients specific risk factors for given complications, then we can better tailor our therapeutic approach, he said.

The current study focuses on factor V (factor five), one of the proteins essential to normal blood clotting. A variant form of the gene, called factor V Leiden, is present in about five percent of the white population in the United States, making it one of the most common inherited blood coagulation mutations. Individuals with factor V Leiden are at increased risk of forming blood clots, especially deep venous thromboses.

Because factor V Leiden carriers have blood with an increased tendency to clot, Donahue and colleagues wondered whether the mutation might actually protect against blood loss and transfusion in patients undergoing cardiac surgery.

They enrolled 517 cardiac surgery patients in the study, 26 of whom turned out to have one copy of the factor V Leiden gene (and one normal factor V gene). By measuring multiple variables and performing statistical comparisons, the investigators were a
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Contact: Clinton Colmenaers
clinton.colmenares@vanderbilt.edu
615-322-4747
Vanderbilt University Medical Center
24-Feb-2003


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