Hemophilia

There are two major types of hemophilia:

• Hemophilia A. About 90 percent of people with hemophilia have hemophilia A. Hemophilia A is caused by a lack of clotting factor VIII.
• Hemophilia B. This rare form of hemophilia is caused by a deficiency of clotting factor IX. Hemophilia B is also called Christmas disease (after the man who first diagnosed the condition).

Boys who inherit the hemophilia gene from a parent have hemophilia. Girls can have the condition or can carry the gene without having hemophilia. Girls who carry the hemophilia gene usually have normal levels of clotting factors but may show symptoms of the condition, such as bruising easily, heavy menstrual bleeding or frequent nosebleeds.

Although hemophilia is genetic, about a third of children with the condition have no family history of it. It is not clear how this happens, but it appears that a new mutation causes hemophilia when there is no family history of the condition.

Symptoms of hemophilia include:

• Excessive bleeding of any kind
• Blood in the urine or stool
• Bruising easily and excessively
• Nosebleeds

Major complications of hemophilia include:

• Bleeding in the brain. Head trauma is an emergency for children with hemophilia. Bleeding inside the skull is the most common cause of death in children with hemophilia. Even a small bump on the head can cause a brain hemorrhage that can be life-threatening. Symptoms of a brain hemorrhage include:
  • Headache that is painful and lasts a long time
  • Vomiting repeatedly
  • Sleepiness
  • Double vision
  • Seizures
  • Weakness or clumsiness
• Bleeding into joints. Bleeding into joints can cause swelling, warmth, pain and difficulty bending that joint. Eventually, joints can become deformed if the child is not treated for his or her hemophilia.
• Bleeding into muscles. When blood builds up in the muscles, it can cause swelling and pain. Eventually, this swelling can cause damage to tissues and nerves.
• Mouth bleeding. Teeth brushing and dental work can cause frequent bleeding from the gums.

Diagnosis of Hemophilia

In addition to a complete medical history and physical exam, your child's doctor may perform numerous blood tests. Blood tests performed by doctors at Riley at IU Health may include measuring clotting factor levels, taking a complete blood count (CBC) and/or performing DNA testing. Your child's doctor may ask for details about your family medical history. The medical and family history, physical exam and blood test results can help the doctor make a diagnosis.