Bumps and scrapes are a part of every child's life. For most kids, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a healing scab. However, for kids with hemophilia, these normal traumas of childhood are reason for extra concern.
Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. Currently, about 17,000 people in the United States have hemophilia. About 1 in every 5,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender. A male can't pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia.
What Is Hemophilia?
Human blood contains special proteins, known as clotting factors. Identified by Roman numerals, clotting factors help stop bleeding and allow a blood vessel to heal after an injury. The last step in the clotting process (also called coagulation) is the creation of a "net" that closes the torn blood vessel and stops the bleeding. This part of the process involves clotting factors VIII and IX. People with hemophilia are deficient in one of those factors due to their abnormal genes and, as a result, their blood can't clot properly.
Hemophilia A, also known as factor VIII deficiency, is the cause of about 80% of cases. Hemophilia B, which makes up the majority of the remaining 20% of cases, is a deficiency of factor IX. Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood.
A patient whose blood tests suggest severe hemophilia will usually bleed frequently, whereas another patient with a milder form will usually bleed only rarely. However, there is a range of severity within each group. The reasons for this variability may relate to other clotting factors or to differences in behaviors that present different risks of injury.
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 30% of males with hemophilia bleed excessively when circumcised and only 1% to 2% 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
- 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.
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.
Although hemophilia is a lifelong condition with no cure (other than liver transplantation), 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 even older patients) 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 exhaust the average lifetime insurance limit of $1,000,000 by their second decade.
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 and are also 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.
You can help your child with hemophilia prevent problems by encouraging healthy behaviors now. 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.
Your child's weight should also be managed properly, because excess weight can cause strain in regions of the body. 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 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.
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 (i.e., 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 unbearable.
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 child's 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 a child with hemophilia, but routine cleanings can sometimes cause bleeding. For this reason, it's important that your child's dentist has experience with hemophilia. This will make it easier for the dentist to respond to any bleeding.
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 disorders. 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 your child's 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, and a feeling of relief when contracting or flexing that side of the body)
- 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: Gregory C. Griffin, MD
Date reviewed: September 2007