Hemophilia in children
Mar 2, 2018, 2:41:50 PM CST Aug 8, 2018, 12:28:09 PM CDT

Hemophilia in children

At one time, there was no treatment for this rare bleeding disorder, but children today are leading normal lives

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Bumps, bruises, cuts and scrapes are part of growing up for kids. But if you have a child with hemophilia, treating those minor injuries might be more complicated.

Hemophilia is a genetic bleeding disorder that prevents blood from clotting normally. Children with the condition have a shortage of, or are missing, a clotting factor, which is a specific protein needed to help blood clot. That means those common childhood injuries bleed longer, cause bruising or even result in internal bleeding.

Types of hemophilia

Hemophilia occurs approximately in one in every 5,000 births, mostly in boys, of any ethnic group or race. There are two types of hemophilia: A, the most common, and B. Children with hemophilia A lack factor VIII (factor 8). Children with hemophilia B are deficient in factor IX (factor 9). Each type is diagnosed either as mild, moderate or severe, depending on the amount of clotting factor in the blood.

"About 50 percent of children with A have the severe form," says Janna Journeycake, M.D., a board certified pediatric hematologist/oncologist with The Pauline Allen Gill Center for Cancer and Blood Disorders at Children’s Health℠. "With severe hemophilia, a child can have spontaneous deep tissue and internal bleeding without any type of trauma."

She says with moderate hemophilia, spontaneous bleeding is rare, and a child bleeds longer after minor traumas like minor surgery or an injury.

"Boys with mild hemophilia may not bleed unless there's a trauma," Dr. Journeycake adds. "We sometimes have to remind them that they have hemophilia."

How is hemophilia inherited?

To understand how hemophilia is inherited, you need to understand a little genetics. Females have two X chromosomes; males have one X chromosome and one Y chromosome. A child receives one copy of a chromosome from each parent­ – girls receive an X chromosome from both parents, boys receive an X from the mother and a Y from the father.

Hemophilia occurs when there's a genetic mutation – a mix-up ­– on an X chromosome responsible for producing the clotting factors. A mother with the hemophilia gene (on one of her two X chromosomes) is called a carrier. She may not show any symptoms of the disease, but she can pass it on to her children. Her sons will have a 50-50 chance of having the disease. Her daughters will have a 50-50 chance of being carriers. If the father has the hemophilia gene (on his one X chromosome), his sons won't have the disease, but his daughters will inherit the hemophilia gene from him and be carriers.

Although hemophilia is genetic, 20–30% of babies born with the disease have no family history of it. Those cases are caused by a spontaneous mutation, a genetic problem that happens for no known reason.

There is no simple way to prevent hemophilia. If the disease runs in your family, you may consider genetic counseling about your chance for having children with hemophilia.

How is hemophilia treated?

Treatment of hemophilia is to stop and prevent bleeds, such as spontaneous bleeding in the joints. Joints can become deformed with repeated bleeding and bleeding that's not treated promptly. The most common way to treat hemophilia is with factor replacement therapy, which intravenously replaces the missing clotting factor.

Treatment depends on the type of hemophilia – A or B – and how severe it is. A child with mild hemophilia may need treatment only if he's been injured or before surgery. If your child has severe hemophilia, he may need regular, preventive treatment to keep spontaneous bleeding from occurring.

"Hemophilia A and B require different products," explains Dr. Journeycake. "The products used for A (factor VIII) don't stay in the body as long, so they need to be dosed more often, usually every other day, up to three times a week. Factor IX products stay in the body longer, so they need to be dosed twice a week."

Is a cure for hemophilia possible?

Dr. Journeycake says although hemophilia is a lifelong disease, this is the first time in history that people with the disease have a normal lifespan and quality of life.

"We now have wonderful medicines we can use to prevent the long-term disabilities people would develop from joint bleeding," she says. "This is the first generation of men and young-aged men who truly have normal lives other than having to take a product two or three times a week."

Although there's no cure for hemophilia, research using gene therapy is making inroads into getting closer to a cure.

"Gene therapy is in clinical trials and looking successful at least in bringing down the severity," says Dr. Journeycake. "We're closer to new products and technologies that won't cure it, but make levels normal."

Learn more

The pediatric Hematology Program at the Pauline Allen Gill Center for Cancer and Blood Disorders is one of the nation’s top programs for children with blood and bone marrow disorders. Learn more about our program and services.

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