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Genetic cause discovered for rare bleeding disorder
Date:3/4/2010

Hamilton, ON (March 4, 2010) For some Canadians, any cut such as from dental work or surgery can cause days or more of bleeding. Although they are not hemophiliacs, for some an ordinary bruise can balloon into the size of an orange. For others, knees, elbows and ankles are crippled when bleeding seeps into joints. In very serious cases, hundreds of blood transfusions are required for recovery.

Now a team led by McMaster University hematologist Dr. Catherine Hayward has discovered the genetic cause of Quebec Platelet Disorder (QPD). They have gone on to develop a genetic test for the condition a major advance in diagnosing this serious and unusual bleeding problem.

The condition is called a platelet disorder because it transforms platelets (blood cells that control bleeding) from clot formers into clot busters.

It is called QPD because careful detective work has traced all individuals with this condition back to one Quebec family. In parts of Canada, about one out of 150,000 persons have QPD and the new genetic test is expected to uncover many more.

Hayward, a professor of both the departments of medicine and pathology and molecular medicine in the Michael G. DeGroote School of Medicine, calls the discovery of the genetic cause of QPD a "milestone" in her career.

Because the genetic cause of most bleeding disorders continues to be a mystery, "it's satisfying to know that our team tackled the genetic cause of a really fascinating genetic disorder and have an answer," she said. "And, it's not the answer anybody expected, which makes it even more interesting."

QPD is an autosomal dominant bleeding disorder, which means a person only needs to receive the abnormal gene from one parent to inherit the disease. The research team discovered that QPD is caused by a mutation involving an extra copy of the gene PLAU, the urokinase plasminogen activator (uPA) gene that causes overproduction of an enzyme that acce
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Contact: Laura Thompson
lthomp@mcmaster.ca
905-525-9140 x22196
McMaster University
Source:Eurekalert

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