Hemophilia

Bumps and scrapes are a normal part of childhood. For most kids, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a cut that heals with a scab. However, for kids with hemophilia, these everyday mishaps are cause for concern.

What Is Hemophilia?

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

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.

Hemophilia is a genetic disorder, which means it's the result of a change in genes that was either inherited (passed on from parent to child) or happened during development in the womb. 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.

How Blood Clots

When most people get a cut, the body naturally protects itself. 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 also 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.

When Blood Doesn't Clot

In hemophilia, the body doesn't making enough of certain 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.

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:

• Mild hemophilia: the body makes 6% to 50% of the affected clotting factor
• Moderate hemophilia: the body makes 2% to 5% of the affected clotting factor
• Severe hemophilia: the body makes less than 1% of the affected clotting factor

In general, a person 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.

Signs and Symptoms

Symptoms of hemophilia vary, depending on the amount of clotting factor a person has and the location of the bleeding.

External bleeding is easy to notice. A child may bleed more than usual after scraping the 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 identify if you don't know the signs. These include bruising (especially bruising with swelling), redness, or 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. Once 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:

• red or tea-colored urine (pee), called hematuria
• black or bloody feces (poop)
• blood in vomit
• after a head injury, headache, vomiting, lethargy (sleepiness), or seizures

Diagnosis

Few babies are diagnosed with hemophilia in the first 6 months of life 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 at that time.

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

Diagnosing hemophilia is done with blood tests, including complete blood count (CBC), prothrombin time (PT), activated partial thromboplastin time (PTT), factor VIII level, and factor IX level tests. Doctors also will want to rule out other things that cause a lot of bleeding or bruising, such as liver disease, certain medicines, and even child abuse.

Managing Hemophilia

Hemophilia is a lifelong condition with no cure other than liver transplantation, a procedure that can sometimes cause health problems more serious than hemophilia itself.

But hemophilia can be successfully 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 to clot and prevents long-term joint damage due to bleeding. It can be given while a bleeding episode is happening to promote clotting, or in regularly scheduled treatments to keep the blood healthy.

The therapy is "infused" in the blood — 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.

About a quarter of 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 difficult to treat.

One method for overcoming the inhibitors is by carefully infusing larger amounts of the clotting factor over time. This way the body will start to recognize the clotting factor without trying to attack it. Inhibitors to factor IX (hemophilia B) are less common and harder to treat.

There is also a medicine called recombinant factor VII that can help prevent the body from developing inhibitors. This medicine activates another part of the clotting process directly, so that the missing factors are no longer needed to clot blood.

Treating an External Bleed

In most kids with hemophilia, everyday cuts and scrapes can be treated with common first aid measures. The important thing is to give treatment right away (which may include giving a treatment of clotting factor therapy, if needed). Keep all necessary 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 (superficial) 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 require a treatment of 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, do the following:

• 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, especially when certain areas of the body are affected. Ask your doctor about these situations so that you know what to expect and can be prepared.

Treating an Internal Bleed

Internal bleeding must be treated promptly with factor replacement therapy. Prolonged bleeding can cause serious health problems. For example, a buildup of blood in the joints can wear down the smooth surfaces that allow limbs to bend easily. As the surfaces roughen, irritation and the number of bleeds can increase. This cycle can lead to chronic joint damage that may require surgery to remove the damaged joint tissue.

Learn the signs of an internal bleed, and ask your doctor what to look for. An older child should be encouraged to always tell you when he or she senses a bleed — the sooner it is discovered, the quicker your child can get treatment.

If your child has an internal bleed, give factor replacement therapy treatment if you've been instructed to do so by your doctor, or go to the hospital. Doctors recommend splinting the affected area for a short period of time and then applying ice to ease inflammation, promote clotting, and relieve pain.

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

Preventing Bleeding Problems

Parents can help kids with hemophilia 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, speak to your doctor for advice on weight management.
• Caring for the teeth. Make sure that your child is brushing his or her teeth twice a day, flossing regularly, and drinking 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 has experience with patients who have hemophilia and who knows how to handle bleeding if it happens.

To help prevent bleeding problems, doctors use caution when treating children with hemophilia. For example, when giving immunization shots that are normally given in the muscle, doctors instead inject the shots into a deep area under the skin called the subcutaneous tissue. It's important to remember that kids with hemophilia need all recommended vaccines.

Many patients with severe hemophilia prevent "bleeds" with regular clotting factor infusions (usually two or three times per week). Some young children get a central venous catheter (a hollow, soft tube) inserted surgically into a vein, which lets them get clotting factors without pain.

Caring for Kids, Age by Age

Babies and Toddlers

If your baby is diagnosed with hemophilia, put bumper pads in the crib, cushion furniture with sharp edges, and put gates across stairs to prevent falls. Bumper pads are not recommended for children in general, but an exception can be made for infants with hemophilia.

As your baby begins to crawl and walk, special knee and elbow pads can offer protection against joint bleeds. Some parents sew a pocket in the seat of their child's pants and pad it with a piece of diaper. If your house has ceramic tile or hardwood floors, consider installing carpet or buying rugs to soften the floor surface. And tape down the edges of carpets so your child doesn't trip on them.

Depending on how energetic and adventurous your toddler is, you might want to have him or her wear a helmet to protect against head injuries.

Preschoolers

The preschool years — when children are becoming more independent — can be one of the most challenging times for kids with hemophilia and their parents. For example, a preschooler may not tell mom and dad about an injury that resulted from doing something that's not allowed (riding a bike without a helmet, jumping on the furniture, running in the house, etc.). Most kids, though, will discover that prompt treatment is better than waiting until pain and swelling become severe.

Big Kids and Teens

As children get older, it's helpful to involve them as much as possible in their own care. This can include teaching them how to give their own factor injections and having them track their treatments.

Kids with hemophilia can still participate in activities, though they might have to take on a different role. For example, hemophilia might prevent kids from participating in contact sports, but they can still be a part of the team as the scorekeeper or assistant manager. Swimming, hiking, golf, and other low-impact sports are good options for kids with hemophilia.

Another option is to send them to a summer camp where they can meet other kids with hemophilia and work toward being able to give themselves clotting factor replacement therapy for a sense of control over the condition. Ask your doctor about finding a camp near you.

Ask your family members, caregivers, and your child's teachers if they would like to learn more about hemophilia by meeting with your doctor or other members of your child's care team.

When to Call the Doctor

Certain bleeds need medical attention. If your child develops a swollen joint, this could be a sign of bleeding in the joint, so call the doctor right away. Also, if your child gets hurt or you suspect your child has bleeding or bruising anywhere on the body, call the doctor.

If your child has a central venous line and develops a fever, call the doctor right away. This could be a sign of a central line infection.

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 difficulty moving
• red or tea-colored urine
• bloody or black poop

If the bleed requires going to the emergency room, make sure your child is treated at a hospital that has experience treating hemophilia.

Looking to the Future

Tremendous advances have been made in the treatment of hemophilia, and most patients can now lead full, healthy lives with careful management of their condition.

The development of clotting factors made in the laboratory has virtually eliminated the danger of infusion-related infection with HIV or hepatitis viruses from clotting factor replacement therapy. And regular home-based infusions have helped reduce chronic joint problems.

In the future, people with hemophilia may have access to 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 participate in more activities and have the freedom to lead more active lives.