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MO Scientists to Study Children with Hemophilia

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Monday, May 8, 2017   

KANSAS CITY, Mo. -- About 20,000 people in the U.S. are living with hemophilia, a rare, inherited blood disorder. And a study of the disease is under way at Children's Mercy hospital.

Hemophilia causes a person's blood not to clot, and that can lead to severe bleeding, joint damage, bleeding into the brain and even death. It's an inherited disease that affects people from all racial and ethnic groups, and strikes 1-in-5,000 boys.

Dr. Shannon Carpenter, director of the Hemophilia Treatment Center at Children's Mercy, said some patients develop an antibody, also called an inhibitor, and that means the medicines used to treat hemophilia won't work. Scientists are trying to figure out why.

"We don't understand all of the reasons why people might get an inhibitor,” Carpenter said. “And we don't really understand how, even if we know someone is more at risk, we don't really know how to keep them from getting an inhibitor."

Children with a family history, along with African American and Hispanic children, are more likely to develop the inhibitor. The study is just getting under way and will take place over the next six years.

Carpenter said other studies have been done outside the U.S. but this one takes an in-depth look at children who have been diagnosed with the illness.

"We haven't focused on specifically untreated young children in the way that we plan on focusing on here,” she said. "We're getting lots of information about their genetics, looking at what kind of medication they're using, how often they're using it, what situation they're using it in."

For the first phase of the study, Children's Mercy is collaborating with Rady Children's Hospital in San Diego and BloodCenter of Wisconsin, along with doctors who have studied the disease extensively in the Netherlands. Then it will move on to all 140 hemophilia treatment centers in the U.S.

More information on hemophilia is available at cdc.gov.


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