Clotting Disorders

girl in the hospitalClotting and Bleeding Disorders
“A clotting disorder can mean that your blood doesn’t clot enough, or it may clot too much. Both can cause medical emergencies. Too much clotting in a blood vessel in your head can cause a stroke, even in a young child,” says Dr. Nugent, CHOC pediatric hematology specialist. “Alternatively, not enough clotting results in a bleeding disorder, like Von Willebrand disease which is common, occurs in about 1 in 100 people, and affects boys and girls. Boys tend to get frequent nosebleeds and bruising when they are younger and girls can have a problem with heavy menstrual periods that can make them anemic.” Von Willebrand disease is the most common bleeding disorder in the U.S. affecting both men and women, while hemophilia is a well-known X-linked genetic bleeding condition affecting primarily boys.

Treatment at Home
Many children with clotting and bleeding disorders are diagnosed as babies and can be successfully treated at home. The clotting protein or factor that they are missing in their blood can be produced by genetic engineering and concentrated in a small vial, so patients can get an intravenous infusion. This treatment corrects the defect for several days so the children can participate in normal activities without fear of bleeding, Dr. Nugent says. “Family education is critical with all bleeding and clotting disorders. Families should know how to treat their child in all situations if there is a problem. We want families to know more than most doctors know about their child’s rare bleeding disorder. We want to empower patients to be independent and knowledgeable so they can regularly treat themselves at home to prevent bleeding.”

Helping the Family
Dr. Nugent says it’s common that young patients with bleeding or clotting disorders will have other family members — both other children and adults — who have a hereditary blood disorder that has never been diagnosed. Help is available, she says. “If you or someone in your family may have a blood or bleeding disorder and it’s a child, contact CHOC. Adults should call the Center for Inherited Blood Disorders next door to CHOC.
The website is or they can call 714-221-1200.”

Fast Facts

  • Estimated Number of Hemophilia Patients in the U.S.: 20,000-25,000
  • Number of Americans who die each year from abnormal blood clots: 600,000+

View the full feature on Kids and Clotting Disorders

Dr. Nugent
Dr. Diane Nugent
CHOC Pediatric
Hematology Specialist

Physician Focus: Dr. Diane Nugent

Dr. Nugent is a nationally recognized expert in pediatric hematology. Her clinical and research interests include blood disorders, bone marrow failure, bleeding and clotting disorders, and white cell and immune deficiencies. Dr. Nugent is Chair of Hematology and medical director of the Blood and Donor services at CHOC Children’s, as well as the Hematology Advanced Diagnostic Lab. Dr. Nugent completed her residency and internship at Denver Affiliated Hospitals in Denver. Dr. Nugent received her fellowship training at Children’s Hospital Medical Center in Seattle and the Fred Hutchinson Cancer Research Center in Seattle.

Dr. Nugent’s philosophy of care: “I take a family-centered approach and educate families to help them understand what they have and how to care for it. The family is key for the diagnosis, treatment and education, and optimal outcomes. I want them to be empowered and independent.”

David Geffen School of Medicine at the University of California, Los Angeles

Pediatric Hematology-Oncology

More about Dr. Diane Nugent

This article was featured in the Orange County Register on July 28, 2014, and was written by Amy Bentley.

Treating Hemophilia Today and Tomorrow

Much has changed in the ways of treating hemophilia – an inherited bleeding disorder in which a patient’s blood does Hemophilia_CHOCnot clot properly – and even more changes are on the horizon, says a CHOC Children’s hematologist.

“Within just the last 20 years – one generation – is when we began having factors to treat the patients with hemophilia,” says Dr. Diane J. Nugent, chair of hematology and medical director of hematology and Blood and Donor Services at CHOC Children’s. Dr. Nugent also is the medical director of the Hematology Advanced Diagnostic Lab.

Today, hemophilia is treated by replacing the missing blood clotting factor so the blood can clot properly. This is done by administering factor concentrates into a vein. Today, patients can perform these infusions themselves at home to prevent and stop bleeding episodes and enjoy a better quality of life, she says.

“Thanks to therapy, kids can play sports, attend school like any other child and live a full and complete life,” Dr. Nugent says. “Just a generation ago, by the time they were adults, patients with hemophilia were disabled. Today’s treatments are safe and lots of people can do this at home with no problems. This gives the patients more independence.”

Those with hemophilia are typically treated twice a week at home, but new treatments for some patients reduce the frequency. Some patients can now treat themselves as little as once a week because of a new long-acting factor to correct their bleeding.

A new long-acting product called Alprolix treats about one out of six patients who have a type of the condition called hemophilia B. In addition, a long-acting factor for different but common type of hemophilia will be coming out soon as well, Dr. Nugent says.

“Long-acting factors for hemophilia patients will reduce the frequency of IV pokes and will greatly improve their quality of life because now they will only need to treat themselves once a week,” she says.

Because hemophilia is a genetic disorder, specialists hope the condition will one day be corrected through gene therapy.

“Those genetic trials are ongoing at Stanford University and starting with adults,” Dr. Nugent says “We hope that will trickle down to kids in the next decade.”

According to the Centers for Disease Control, the median age in the United States for diagnosis 3 for those with mild hemophilia, 8 months for those with moderate hemophilia, and 1 month for those with severe hemophilia. In most cases, there is a family history of hemophilia.

CHOC always needs new donations of blood and platelets to help patients with hemophilia. To donate blood or platelets, call 714-509-8339 or email to make an appointment.

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