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Hemophilia

What Is Hemophilia?

Hemophilia is a rare disease that prevents blood from clotting as it should. Clotting helps stop bleeding after a cut or injury. If clotting doesn't happen, a wound can bleed too much.

What Causes Hemophilia?

Hemophilia (hee-muh-FIL-ee-uh) is a genetic disorder. This means it's caused by a change in genes that was either:

  • passed on from parent to child (inherited)
    or
  • happened during development in the womb (spontaneous)

Most cases are inherited. Hemophilia mostly affects boys, about 1 in every 5,000–10,000. Girls who inherit the gene rarely get the condition. But as carriers of the gene, they can pass it to their children.

What Happens in Hemophilia?

When most people get a cut, sticky blood cells called platelets go to where the bleeding is and plug up the hole. This is the first step in the clotting process.

When the platelets plug the hole, they release chemicals that attract more sticky platelets and activate proteins in the blood known as clotting factors. These proteins mix with the platelets to form fibers, which make the clot stronger and stop the bleeding.

In hemophilia, the body doesn't making enough of some clotting factors. Our bodies have 13 clotting factors that work together to clot blood. They're named using Roman numerals from I through XIII, or 1 through 13. Having too little of factors VIII (8) or IX (9) is what causes hemophilia.

What Are the Types of Hemophilia?

There are two major kinds of hemophilia: hemophilia A and hemophilia B. About 80% of cases are hemophilia A, which is a factor VIII deficiency. 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 it is that the person will have bleeding.

In general, someone with milder hemophilia may bleed too much only once in a while. A person with severe hemophilia is at risk for bleeding problems much more often.

Bleeding can be:

  • external: on the outside of the body, where it's visible
  • internal: on the inside of the body, where it's not seen. Internal bleeding of the joints (like the knees or hips) is common in kids with hemophilia.

What Are the Signs & Symptoms of Hemophilia?

Symptoms of hemophilia vary, depending on how much clotting factor a person has and the where the bleeding is.

External bleeding is easy to notice. A child may bleed more than usual after scraping a knee, getting a paper cut, losing a tooth (or having one removed), or biting down on the lips or tongue. Nosebleeds may last a while.

Internal bleeding is harder to notice if you don't know the signs. These include:

  • bruising, especially bruising with swelling
  • redness
  • tenderness in an area, especially a muscle or joint (like the knee)

Kids with hemophilia usually can tell when internal bleeding is happening. They often describe a "bubbly" feeling in an area like a joint. The area also may feel achy, stiff, or warm to the touch.

Babies with hemophilia can't say how they feel, but they do give signs. When they begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back. A baby also may be fussy and not want to reach for a cup, walk, or crawl.

Other signs of internal bleeding include:

How Is Hemophilia Diagnosed?

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. And even when if do — for example, during a circumcision — many do not bleed enough to signal a problem.

As kids get older and more active, a doctor may suspect hemophilia if a child bruises easily and bleeds too much when injured.

To diagnose hemophilia, doctors order blood tests, including:

Doctors also will want to rule out other things that cause bleeding or bruising, such as liver disease, some medicines, and even child abuse.

How Is Hemophilia Treated?

Hemophilia is a lifelong condition. The only cure is a liver transplant, a procedure that can sometimes cause health problems more serious than the hemophilia.

But it can be managed by knowing when and how to treat a bleeding episode, and getting regular treatments that replace the missing clotting factor.

Factor Replacement Therapy

Factor replacement therapy helps blood clot and prevents long-term joint damage from bleeding. It can be given during a bleeding episode to aid clotting, or in regular scheduled treatments to keep the blood healthy.

The therapy is "infused" in the blood. It's given through an intravenous (IV) line either at a clinic or at home by a visiting nurse or by parents (and patients themselves) who have had special training. Once the clotting factor is in the blood, it begins to work quickly.

Some children with severe hemophilia A develop inhibitors (antibodies to the clotting factor). Their bodies view the new clotting factor as an invader and develop antibodies that block its clotting action. This can make the hemophilia hard to treat.

In those cases, doctors may recommend infusing larger amounts of the clotting factor over time. This lets the body start to recognize the clotting factor without trying to attack it. Inhibitors to factor IX (hemophilia B) are less common and harder to treat.

A medicine called recombinant factor VII can help prevent the body from developing inhibitors. This medicine activates another part of the clotting process directly, so that the missing factors aren't needed to clot blood.

What if Bleeding Happens?

If your child has hemophilia, it's important to watch for and know how to treat bleeding, whether external or internal.

Treating an External Bleed

In most kids with hemophilia, regular first aid can treat everyday cuts and scrapes. The important thing is to treat them right away. This can include giving a treatment of clotting factor therapy, if needed. Keep all needed items handy (like a first aid kit) at school, home, and in the car. Also, make sure that all caregivers know what to do in an emergency.

For small cuts and scrapes:

  • Rinse the cut or wound with water and apply pressure with sterile gauze, a bandage, or a clean cloth.
  • If the bleeding does not stop, your child may need a treatment of factor replacement therapy. If you cannot give it, take your child to the doctor's office or hospital right away for treatment.

Severe cuts usually need treatment with factor replacement therapy. If the cut is severe and you can't get your child to a hospital right away or must wait for an ambulance:

  • Rinse the cut or wound with water and apply pressure with sterile gauze, a bandage, or a clean cloth.
  • If blood soaks through the bandage, place another bandage over the first and keep applying pressure.
  • Raise the injured body part to slow bleeding.
  • When bleeding stops, cover the wound with a new, clean bandage.

Your child may bleed more in some situations than in others. Talk with your doctor about this so that you know what to expect.

Treating an Internal Bleed

Internal bleeding needs treatment right away with factor replacement therapy. Bleeding that goes on can cause serious health problems.

Learn the signs of an internal bleed, and ask your doctor what to look for. An older child should know to always tell you when sensing a bleed. The sooner it's found, the quicker it can be treated.

If your child has an internal bleed, give factor replacement therapy treatment if your doctor showed you how, or go to the hospital. Doctors recommend splinting the area for a short time, and then applying ice to ease swelling, help clotting, and relieve pain.

Acetaminophen (such as Tylenol) is the preferred pain reliever. Many other over-the-counter pain medicines contain aspirin or NSAIDs (non-steroidal anti-inflammatory drugs, such as ibuprofen or naproxen sodium), which can affect blood platelets and lead to more bleeding.

When Should I Call the Doctor?

Some bleeds need medical care. A swollen joint could be a sign of bleeding in the joint, so call the doctor right away. Also call if your child gets hurt or has bleeding or bruising anywhere on the body.

Go to the emergency room if your child has:

  • an injury to the head, neck, belly, or back
  • bleeding that is not stopping
  • severe belly pain or trouble moving
  • red or tea-colored pee
  • bloody or black poop

How Can Parents Help?

Parents can help kids prevent problems by encouraging healthy behaviors, including:

  • Regular exercise. Exercise can strengthen muscles and help decrease bleeding from injuries. Swimming is a great sport for kids with hemophilia because it exercises all the muscle groups without putting stress on the joints.
  • Keeping a healthy weight. Extra weight can strain parts of the body and increase bleeding risks. If your child is overweight, talk to your doctor about weight management.
  • Caring for the teeth. Your child should brush his or her teeth twice a day, floss often, and drink fluoridated water to keep the teeth as healthy as possible. This will make it less likely for the gums to bleed or for your child to need dental surgery. Routine cleanings can sometimes cause bleeding. Find a dentist who cares for patients with hemophilia and knows how to handle bleeding if it happens.

To help prevent bleeding problems, doctors make some changes when caring for children with hemophilia. Like all kids, those with hemophilia need the recommended vaccines. But rather than giving shots into the muscle, doctors inject them into a deep area under the skin called the subcutaneous tissue.

What Else Should I Know?

Hemophilia treatment has come a long way. Most patients lead full, healthy lives with careful management of their condition.

Someday, people with hemophilia might use continuous infusion of clotting factors under the skin or in pill form. Some doctors are also encouraged by research involving gene therapy.

Thanks to advances like these, kids with hemophilia can lead more active lives.

Date reviewed: January 2015