What Is Hemophilia?
Hemophilia is a rare disease that prevents blood from clotting as it should. It happens because the body doesn't make enough of a protein called a clotting factor. Clotting helps stop bleeding after a cut or injury. If clotting doesn't happen, someone can bleed easily or longer than normal.
Different treatments can help control bleeding in most people with hemophilia.
What Are the Signs & Symptoms of Hemophilia?
People with mild hemophilia (hee-muh-FIL-ee-uh) bleed longer than normal after an injury or surgery. People with severe hemophilia also might bleed for no reason at all. This type of bleeding, called spontaneous bleeding, usually happens into a joint.
Symptoms of hemophilia vary, depending on how much clotting factor a person has and where the bleeding is:
- Bleeding in a joint can cause a "bubbly" feeling in the joint, followed by swelling, tenderness, stiffness, and trouble using the joint.
- Bleeding in a muscle can cause pain, swelling, warmth, and a bruise over the area.
Babies and toddlers who have bleeding in a muscle or joint might be fussy or refuse to crawl or walk.
- Bleeding in the digestive system can cause black or bloody poop or blood in throw-up (vomit).
- Bleeding in the brain can cause a headache, vomiting, sleepiness, or seizures.
What Causes Hemophilia?
Clotting factors control bleeding by helping the body form a clot. Our bodies have 13 clotting factors that work together to clot blood. Having too little of factors VIII (8) or IX (9) is what causes hemophilia.
What Are the Types of Hemophilia?
The two main types of hemophilia are hemophilia A and hemophilia B. Hemophilia A, which is more common, happens when there isn't enough factor VIII. Hemophilia B is when there is too little factor IX.
Hemophilia can be mild, moderate, or severe, based on the amount of the clotting factor in the blood. The lower the level of the clotting factor, the more likely the person is to have bleeding.
Who Gets Hemophilia?
Hemophilia is a genetic disorder. It happens when there's a gene change (mutation), which usually is inherited (passed from parent to child).
Hemophilia mostly affects boys. But girls and women can be hemophilia carriers with mild hemophilia A. They may have mild bleeding symptoms and can pass the gene to their children.
How Is Hemophilia Diagnosed?
To diagnose hemophilia, doctors order blood tests, including:
- complete blood count (CBC)
- prothrombin time (PT)
- activated partial thromboplastin time (PTT)
- factor VIII activity test
- factor IX activity test
If hemophilia runs in the family, doctors can do prenatal (before birth) testing with amniocentesis or chorionic villus sampling. More often, when the baby is born, they'll test a sample of blood from the umbilical cord.
Few babies are diagnosed with hemophilia in the first 6 months of life. That's because they're unlikely to have an injury that would lead to bleeding. Bleeding may happen after a circumcision, which can lead to the diagnosis.
As kids get older and more active, a doctor might suspect hemophilia if a child bruises easily and bleeds too much when injured.
How Is Hemophilia Treated?
Hemophilia treatment centers can provide full care to kids with hemophilia. Check the CDC's website to find locations throughout the U.S.
The medical care team for kids with hemophilia usually includes:
- a hematologist (a doctor who treats blood conditions)
- a nurse who specializes in conditions related to bleeding
- orthopedists (doctors who care for bones, joints, and muscles)
- physical therapists to help with strengthening and stretching and joint health
- social workers and/or psychologists to help kids and parents cope with hemophilia
The main treatment for hemophilia is factor replacement therapy. This gives the body the clotting factor it needs. It is given intravenously (IV, into a vein). A person may get factor replacement on a regular schedule (known as prophylaxis) or as a treatment for bleeding. Several products are now available. Talk about treatment options with the hemophilia care team.
Factor replacement can be done:
- at a hospital or hemophilia treatment center
- at home by a nurse
- at home by the person with hemophilia or someone else, after being trained
Doctors also can give medicines to help control bleeding during procedures (such as dental cleanings) and surgeries.
Some people with hemophilia develop inhibitors (antibodies to the clotting factor). Their bodies see the new clotting factor as an invader and develop antibodies that block its clotting action. This can make the hemophilia hard to treat, and requires different factor replacement therapy.
How Can Parents Help?
Help your child with hemophilia get the best care and avoid bleeding problems as much as possible. These tips can help:
- Enroll your child in a hemophilia treatment center.
- Go to all regular doctor's visits.
- Give all prescribed medicines as directed.
- Work with your care team so you know the exact steps to take if your child is injured or bleeding.
- Follow the doctor's instructions about which activities or sports are OK and which to avoid.
- Find a dentist early. Your child should brush their teeth twice a day with fluoride toothpaste and floss every day. Keeping the teeth healthy can help prevent the need for dental procedures.
- Check with the doctor before any procedures (including visits to the dentist) and surgeries.
Also, tell your child's school staff, friends, and all caregivers that your child has hemophilia. They should know:
- how to recognize signs of bleeding
- how to treat bleeding from minor scrapes and cuts
- when to call the doctor
- when to go to the emergency room
What Else Should I Know?
Hemophilia treatment has come a long way. Most people lead full, healthy lives with careful management of their condition. You can find information and support through your child's care team and online at:
Doctors and scientists continue to work on other treatments, such as better and convenient ways to give replacement factor and gene therapy.
Thanks to advances like these, kids with hemophilia can lead more active lives.