Hemophilia

About Hemophilia

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 various proteins in the blood known as clotting factors. These proteins mix with the platelets to form fibers, and these fibers make the clot stronger and stop the bleeding.

Our bodies have 12 clotting factors that work together in this process (numbered using Roman numerals from I through XII). Having too little of factors VIII (8) or IX (9) is what causes hemophilia. A person with hemophilia will only lack one factor, either factor VIII or factor IX, but not both.

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 factor IX is lacking.

Hemophilia is classified as mild, moderate, or severe, based on the amount of the clotting factor in the person's blood. If someone produces only 1% or less of the affected factor, the case is called severe. Someone that produces 2% to 5% has a moderate case, and someone that produces 6% to 50% of the affected factor level is considered to have a mild case of hemophilia.

In general, a person with milder hemophilia may only bleed excessively once in a while, whereas severe hemophilia puts someone at risk for having bleeding problems much more often.

Signs and Symptoms

Signs and symptoms of hemophilia vary, depending on severity of the factor deficiency and the location of the bleeding. Few babies are diagnosed with hemophilia within the first 6 months of life because they're unlikely to sustain an injury that would lead to bleeding. For example, only about 50% of males with hemophilia bleed excessively when circumcised and only 3% to 5% of newborns with hemophilia have bleeding within the skull (called an intracranial hemorrhage).

Once babies with hemophilia begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back. Sometimes, because bruises appear in unlikely places, parents may be suspected of child abuse before their child is diagnosed with hemophilia.

The baby may also be fussy and may not want to reach for a cup, walk, or crawl. Other symptoms include:

• prolonged nosebleeds
• excessive bleeding from biting down on the lips or tongue
• excessive bleeding following a tooth extraction or loss of a tooth
• excessive bleeding following surgery
• blood in the urine (called hematuria)

The most common type of bleeding in hemophilia involves muscles and joints. A child with hemophilia will usually refuse to move the affected joint or muscle because of pain and swelling. Recurrent joint bleeding can also lead to chronic damage.

Diagnosis

Your doctor may suspect your child has hemophilia if there's a pattern of bruising and bleeding, particularly if this includes bleeding into the joint. Diagnosing the condition requires a set of blood tests, including a complete blood count (CBC), prothrombin time (PT), activated partial thromboplastin time (PTT), factor VIII level, and factor IX level.

Treatment

Although 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), it can be successfully managed with clotting factor replacement therapy — periodic infusions of the deficient clotting factor into the child's bloodstream.

Factor replacement may be given through an intravenous (IV) line either at the hematology clinic or at home by a visiting nurse or by parents (and patients themselves) who have undergone special training. Your child's hemophilia team (doctors called hematologists who specialize in treating blood disorders, nurse practitioners, nurses, and social workers) will teach you how to prepare the concentrated clotting factor and when and how to inject it into your child's vein.

Once the clotting factor is "infused," it begins to work quickly and helps prevent joint damage.

Although these treatments are effective, they are also expensive. According to the National Heart, Lung, and Blood Institute, most kids in the United States who begin receiving regular infusions early in life will incur more than $1,000,000 in health care costs by their second decade (although most health insurance plans will cover much of this).

Between 14% and 25% of children with severe hemophilia A develop inhibitors (antibodies to the clotting factor). Their bodies view the clotting factor as a foreign substance and develop antibodies that block its clotting action. This can make the hemophilia difficult to treat.

One method for overcoming the inhibitors is to increase the body's tolerance to the clotting factor by carefully infusing increasing amounts of the clotting factor over time. Inhibitors to factor IX (hemophilia B) are less common but are more difficult to treat.

Also, a new medication called recombinant factor VII has helped many patients with inhibitors. It activates another part of the coagulation process directly and bypasses the deficiencies.

Preventing Problems

Parents can help kids with hemophilia prevent problems by encouraging healthy behaviors. For example, exercise can strengthen muscles and help decrease bleeding from injuries. Swimming is strongly encouraged because it exercises all the muscle groups without putting stress on the joints.

The child's weight should also be managed properly, because excess weight can cause strain in regions of the body and increase bleeding risks. If your child is overweight, speak to your doctor for advice on weight management.

Medications can also help prevent problems in kids within hemophilia. Many patients with severe disease prevent "bleeds" by infusing clotting factors on a regular basis (usually two or three times per week). Some young children have a surgical procedure to implant a central venous catheter (a hollow, soft tube) into a vein. The catheter can be used to give concentrates of clotting factors without pain.

Your Child's Needs

Although each stage of development comes with its own set of issues, experts say the toddler and teenage years can be the most challenging for kids with hemophilia. Both phases naturally involve a child's quest for independence. For example, a toddler may not tell his or her parents about an injury that resulted from doing something that wasn't allowed (riding a bike without a helmet, jumping on the furniture, running in the house, etc.). Most kids, though, will discover that seeking prompt treatment is better than waiting until pain and swelling become severe.

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 the hemophilia team.

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.

Another excellent option is to send them to an appropriate 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 for information about finding a camp near you.

Caring for Kids With Hemophilia

When your child is an infant, you should put bumper pads in the crib, cushion furniture with sharp edges, and put gates across stairs to prevent falls.

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.

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

Dental care is just as important for kids with hemophilia, but routine cleanings can sometimes cause bleeding. So it's important that the dentist have experience with patients who have hemophilia and know how to handle any bleeding that may occur.

Kids with hemophilia can generally sense when a bleed has occurred. They often describe a tingly or bubbly sensation in a joint. It may also feel warm to the touch. Encourage your child to tell you when he or she senses a bleed — a quick infusion is the key to preventing long-term damage.

Doctors also recommend splinting an affected joint for a short period of time and then applying ice to decrease 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.

Bleeds must be treated promptly because prolonged bleeding can cause joint problems. The accumulation of blood in the joint spaces can erode the smooth surfaces that allow limbs to bend easily. As the surfaces roughen, inflammation 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 (called a synovectomy).

When to Call the Doctor

Certain bleeds require medical attention, including those injuries affecting:

• the central nervous system — any suspected trauma to the head, neck, or back
• the face, including the eyes and ears
• the throat or another portion of the airway
• the gastrointestinal tract (which might produce signs such as bright red or black blood in the stool)
• the kidneys and urinary tract (if you find blood in the urine, this may require treatment and bed rest)
• the iliopsoas muscle in the trunk (which might produce signs that mimic a hip or abdominal bleed, including lower abdominal/groin or upper thigh pain, an inability to raise the leg on the affected side)
• the genital area
• the hips or shoulders (these can be complicated bleeds because they involve the rotator joints)
• large muscle compartments, such as the thighs

If the bleed requires going to the emergency room, make sure your child is treated at a hospital that has experience treating hemophilia. Any injury affecting the brain or any part of the central nervous system or a vital organ should be treated as an emergency and you should get medical assistance immediately.

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 transfusion-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 now participate in a wide range of sports and have the freedom to lead more active lives.

Reviewed by: Suzanne Nielsen, MD, and Steven Dowshen, MD
Date reviewed: January 2011
Originally reviewed by: Gregory C. Griffin, MD