Hemophilia

What is hemophilia?

Hemophilia is a bleeding disorder that causes the blood to not clot normally. This can cause easy bleeding, bleeding longer than normal or bleeding more than normal. Hemophilia is usually an inherited condition that is passed down in families, but about one-third of children diagnosed with hemophilia have no family history of the condition.

Children born with hemophilia don't have enough of certain proteins, called clotting factors, in the blood. The two most common types of hemophilia are:

• Hemophilia A (also called classic hemophilia), which is caused by a lack of clotting factor VIII.
• Hemophilia B (also called Christmas disease), which is caused by a lack of clotting factor IX.

Hemophilia in children can range from mild to severe, based on amount of clotting factor in the blood. The lower the level of clotting factor, the more severe the child's bleeding.

What are the symptoms of hemophilia?

The symptoms of hemophilia can vary depending on how severe the condition is and where the bleeding occurs. Common symptoms in children may include:

• Pain and swelling in the joints, caused by bleeding into the joints
• Bruising easily, caused by bleeding under the skin
• Bleeding after a circumcision
• Bleeding after vaccinations (shots)
• Bleeding in the gums or mouth, or bleeding for a long time after losing a tooth
• Blood in the urine or stool
• Headache, sleepiness or sensitivity to light, caused by bleeding in the head

What causes hemophilia?

In most cases, hemophilia in children is inherited from a parent. However, about one-third of the time, a baby born with hemophilia is the first in the family to have the condition.

Most children with hemophilia are boys. Girls can sometimes have hemophilia, but this is rare. This is because the genes related to clotting factors are located on the X chromosome. Because girls have two X chromosomes, they almost always have one working copy of the gene. Boys have one X and one Y chromosome, so if their X chromosome carries a clotting factor mutation, they will be born with hemophilia.

How is hemophilia treated?

Your child’s treatment for hemophilia may depend on the type of hemophilia they have and how severe it is. Your care team at Arkansas Children’s is experienced in treating hemophilia, and we’ll work with you to create the best treatment plan for your child’s specific type of hemophilia and symptoms.

• The most common treatment for hemophilia is factor replacement therapy. This is a commercially prepared concentrate of the blood clotting factor your child is missing. Factor replacement therapy is given through an infusion into a vein. Children with moderate to severe hemophilia may get the factor replacement therapy on a regular schedule to prevent bleeding. Children with milder hemophilia may only get the treatment when they need it, such as before surgery or after an injury.
• Emicizumab (brand name Hemlibra) is a new medication for people with hemophilia A. Instead of replacing the missing clotting factor VIII, it replaces the function of factor VIII. Emicizumab can be used to prevent or reduce the number of bleeding episodes your child has. It is given by an injection under the skin.
• Desmopressin (DDAVP or Stimate) are medications that mimic a hormone found naturally in the body. These medications can help increase the child's own factor VIII levels.