02:30 AM

Dr. Shannon Carpenter seeks new ways to diagnose hemophilia

Shannon Carpenter, MD, MS, is a pediatric hematologist at Children's Mercy conducting clinical research in hemophilia and thrombosis (clot) diagnosis and treatment.

She also serves as the Associate Division Director of Hematology/Oncology/BMT, director of the Hemophilia Treatment Center, and an associate professor of Pediatrics at the University of Missouri-Kansas City School of Medicine.

"If I could prevent clots and be out of a job because of it, it'd be worth it," Dr. Carpenter said.

Hemophilia is a bleeding disorder that occurs in one in 5,000 male births. Its most common form is Hemophilia A, factor 8 deficiency. A majority of patients testing positive for hemophilia have a severe case, which means the patient has spontaneous bleeding, often into their joints, but sometimes into their head or abdomen.

"Without treatment hemophilia is a life-limiting and life-altering condition," Dr. Carpenter said, "but with treatment they can have very normal lives. We treat patients who have severe hemophilia with prophylactic treatment. We give them treatments every few days to keep their factor levels up so they don't have excessive bleeding."

Bleeding and clotting are a delicate balance, Dr. Carpenter said. A clot must break down after it is formed, and if it doesn't break down, then there is a clotting disorder.

Recently, with funding from Pfizer, Dr. Carpenter has done clinical research with the Children's Mercy Genomics Center to find a new way to diagnose hemophilia. Usually, diagnosis is based upon factor levels, but 30 percent of people with hemophilia have no family history and thus have to have their first bleeding episode before the physician can diagnose them.

"Our study is looking at whether we can look at dried blood spots to genomically identify whether the patient has hemophilia without having to wait for their first bleeding episode," Dr. Carpenter said.

Collaboration with Dr. Anderst
Dr. Carpenter often collaborates on research projects with her husband, James D. Anderst, MD, MSCI, Division Director of the Section on Child Abuse and Neglect at Children's Mercy. In her study of hemophilia, she frequently sees connections to child abuse. She and her husband often sit at home after work, thinking of research they could conduct to detect and prevent child abuse.

In one study Drs. Carpenter and Anderst did together, they found that children with bleeding disorders are more likely to have bruising or bleeding that is clinically highly suggestive of non-accidental trauma or child abuse-of the 189 children with bleeding disorders evaluated in the study, 15 percent presented in a manner that could be confused with abuse. The study was presented at the Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting in Denver in 2011.

Dr. Carpenter said this kind of research is highly impactful. A family can be torn apart because findings erroneously conclude the child does not have a bleeding disorder and that they were abused. Similarly, a child without a bleeding disorder who is falsely diagnosed with one could still be in an abusive home.

"That's huge," Dr. Carpenter said. "It's hard on the whole family, so you have to get the diagnosis right."

Dr. Carpenter became a pediatrician because she loves kids. "I love the developmental aspects of children, that a baby is very different from an adolescent and a school-aged child," she said. "You can really impact a whole family when you take care of a child."