What Is Hemophilia?

Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which your blood doesn't clot normally.

If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and may be life threatening.

Overview

Hemophilia usually is inherited. This means that the disorder is passed from parents to children through the genes.

People born with hemophilia have little or no clotting factor. Clotting factor is a protein need for normal blood clotting. There are several types of clotting factors. These proteins work with platelets (PLATE-lets) to help the blood clot.

Platelets are small blood cell fragments that form in the bone marrow—a sponge-like tissue in the bones. Platelets play a major role in blood clotting.

When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks at the site of the injury and stop bleeding. Without clotting factors, normal blood clotting can't take place. Some people who have hemophilia need injections of a clotting factor or factors to stop bleeding.

There are two main types of hemophilia. If you have hemophilia A, you're missing or have low levels of clotting factor VIII (8). About 9 out of 10 people who have hemophilia have type A. If you have hemophilia B, you're missing or have low levels of clotting factor IX (9).

Rarely, hemophilia can be acquired. This means that you can develop it during your lifetime. This can happen if your body forms antibodies (proteins) to the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working.

This article focuses on inherited hemophilia.

Outlook

Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder.

People who don't have hemophilia have a factor VIII activity of 100 percent; people who have severe hemophilia A have a factor VIII activity of less than 1 percent.

About 18,000 people in the United States have hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia usually occurs only in males (with very rare exceptions).

Other Names for Hemophilia

Hemophilia A

• Classic hemophilia
• Factor VIII deficiency

Hemophilia B

• Christmas disease
• Factor IX deficiency

What Causes Hemophilia?

If you have inherited hemophilia, you're born with the condition. It's caused by a defect in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosomes (KRO-muh-somz).

Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.

A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare.

A female is a "carrier" of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn't have the condition, she can pass the gene on to her children.

Below are two examples of how the hemophilia gene is inherited.

Inheritance Pattern for Hemophilia—Example 1

The diagram shows one example of how the hemophilia gene is inherited. In this example, the father doesn't have hemophilia (that is, he has two normal chromosomes—X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome).

Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia.

Inheritance Pattern for Hemophilia—Example 2

The diagram shows another example of how the hemophilia gene is inherited. In this example, the father has hemophilia (that is, his X chromosome is abnormal). The mother isn't a hemophilia carrier (that is, she has two normal X chromosomes). Each daughter will inherit the abnormal gene from her father and be a carrier. None of the sons will inherit the abnormal gene from their father, and, therefore, none will have hemophilia.

Females who are carriers usually have enough clotting factors from their one normal X chromosome to prevent serious bleeding problems.

Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier.

Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.

What Are the Signs and Symptoms of Hemophilia?

The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.

Excessive Bleeding

The extent of bleeding depends on the type and severity of the hemophilia. Children who have mild hemophilia may not have symptoms unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.

Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).

Signs of excessive external bleeding include:

• Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
• Nosebleeds for no obvious reason
• Heavy bleeding from a minor cut
• Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding include blood in the urine (from bleeding in the kidneys or bladder) and blood in the stool (from bleeding in the intestines or stomach).

Bleeding in the Joints

Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.

At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.

Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't quickly treated can permanently damage the joint.

Bleeding in the Brain

Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:

• Long-lasting, painful headaches or neck pain or stiffness
• Repeated vomiting
• Sleepiness or changes in behavior
• Sudden weakness or clumsiness of the arms or legs or problems walking
• Double vision
• Convulsions or seizures

How Is Hemophilia Diagnosed?

If hemophilia is suspected, or if you appear to have a bleeding problem, your doctor will take your personal and family medical histories. This will reveal whether you or anyone in your family has a history of frequent and/or heavy bleeding and bruising.

You also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out:

• How long it takes for your blood to clot
• Whether your blood has low levels of any of the clotting factors
• Whether one of the clotting factors is completely missing from your blood

The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.

Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.

The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as problematic as some people who have moderate hemophilia.

Severe hemophilia can cause serious bleeding problems in babies. Therefore, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults.

The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder a person has. Knowing which type is important because the treatments are different.

Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn children as early as 10 weeks into their pregnancies.

Women who are hemophilia carriers also can have "preimplantation diagnosis" to have children who don't have hemophilia. For this process, women have their eggs removed and then fertilized by sperm in a laboratory. The embryos that result from this fertilization are then tested for hemophilia. Only embryos that lack the condition will be implanted in the womb.

How Is Hemophilia Treated?

Treatment With Replacement Therapy

The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein. These infusions help replace the clotting factor that's missing or low.

Clotting factor concentrates can be made from human blood that has been treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small.

To further reduce that risk, you or your child can take clotting factor concentrates that don't use human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor.

You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.

Demand therapy is less intensive and less expensive than preventive therapy. However, there's a risk that bleeding will cause damage before the demand therapy is given.

Complications of Replacement Therapy

Complications of replacement therapy include:

• Developing antibodies (proteins) that act against the clotting factor
• Developing viral infections from human clotting factors
• Damage to joints, muscles, or other parts of the body resulting from delays in treatment

Antibodies to the clotting factor. Antibodies can destroy the clotting factor before it has a chance to work. This is a very serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working.

Antibodies to clotting factor, also called inhibitors, develop in about 20 percent of people who have severe hemophilia A and 1 percent of people who have hemophilia B.

When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources. Sometimes, the antibodies go away.

Researchers are studying ways to deal with antibodies to clotting factors. They also are studying whether a larger single-dose of clotting factor may be better than repeated, smaller doses for some patients.

Viruses from human blood factors. Clotting factors can carry the viruses that cause HIV/AIDS and hepatitis. However, no documented case of these viruses being transmitted during replacement therapy has occurred for about a decade.

Transmission of viruses has been prevented by:

• Careful screening of blood donors
• Testing of donated blood products
• Treating donated blood products with a detergent and heat to destroy viruses
• Vaccinating people who have hemophilia for hepatitis A and B

Researchers continue to find ways to make blood products safer.

Damage to joints, muscles, and other parts of the body. Damage resulting from delays in treatment can include:

• Bleeding into a joint. If this happens many times, it can lead to changes in the shape of the joint and impair function).
• Swelling of the membrane around a joint.
• Pain, swelling, and redness of a joint.
• Pressure on a joint from swelling, which can destroy the joint.

Home Treatment With Replacement Therapy

Both preventive (ongoing) and demand (as-needed) replacement therapy can be done at home. Many people learn to do the infusions at home for their child or for themselves. Home treatment has several advantages:

• You or your child can get quicker treatment when bleeding happens. Early treatment means that fewer complications are likely to occur.
• Fewer visits to the doctor or emergency room are needed.
• Home treatment costs less than treatment in a medical care setting.
• Home treatment helps children accept treatment and take responsibility for their own health.

Discuss options for home treatment with your doctor or your child's doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment. Another valuable resource for learning about home treatment is hemophilia treatment centers (discussed in "Living With Hemophilia").

Vein access devices can be surgically implanted to make it easier to get into a vein for treatment with replacement therapy. These devices can be helpful when such treatment occurs often. However, infections can be a problem with these devices. Your doctor can help you decide whether this type of device is right for you or your child.

Other Types of Treatment

Desmopressin

Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild to moderate hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A.

DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer.

DDAVP usually is given by injection or as nasal spray. Because the effect of this medicine wears off when used often, it's given only in certain situations. For example, you may take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding.

Antifibrinolytic Medicines

Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down.

These medicines most often are used before dental work or to treat bleeding from the mouth or nose or mild intestinal bleeding.

Gene Therapy

Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Such gene therapy hasn't yet developed to the point that it's an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials.

Which Treatment Is Best for You?

The type of treatment you or your child receives depends on several things, including how severe the hemophilia is, the activities you'll be doing, and the dental or medical procedures you'll be having.

• Mild hemophilia—Replacement therapy usually isn't needed for mild hemophilia. But DDAVP sometimes is given to raise the body's level of factor VIII.
• Moderate hemophilia—You may need replacement therapy only when bleeding occurs or to prevent bleeding that could occur when doing certain activities. Your doctor also may recommend DDAVP prior to having a procedure or doing an activity that increases the risk of bleeding.
• Severe hemophilia—You usually need replacement therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of your body. Typically, replacement therapy is given at home two or three times a week. This preventive therapy usually is started in patients at a young age and may need to continue for life.

For all types of hemophilia, getting quick treatment for bleeding to limit damage is important. Learn to recognize signs of bleeding.

Family members also should learn to watch for signs of bleeding in a child who has hemophilia. Children sometimes ignore signs of bleeding because they want to avoid the discomfort of treatment.

Living With Hemophilia

If you or your child has hemophilia, you can take steps to prevent bleeding problems. Thanks to improvements in treatment, a child who has hemophilia today is likely to live a normal lifespan.

Hemophilia Treatment Centers

The Federal Government funds a nationwide network of hemophilia treatment centers (HTCs). These centers are an important resource for families and people affected by hemophilia.

The medical experts at HTCs provide treatment, education, and support. They can teach you or your family members how to do home treatments. Center staff also can provide information to your doctor.

People who get care at HTCs are less likely than those who get care elsewhere to have bleeding complications and hospitalizations. They're also more likely to have a better quality of life. This may be due to the centers' emphasis on bleeding prevention and the education and support provided to patients and their caregivers.

More than 100 federally funded HTCs are located throughout the United States. Many HTCs are located at major university medical and research centers. The hemophilia teams at these centers include:

• Nurse coordinators
• Pediatricians (doctors who treat children) and adult and pediatric hematologists (doctors who specialize in blood disorders)
• Social workers (who can help with financial issues, transportation, mental health, and other issues)
• Physical therapists and orthopedists (doctors who specialize in disorders of the bones and joints)
• Dentists

To find an HTC located near you, go to the directory of HTCs on the Centers for Disease Control and Prevention's Web site. Many people who have hemophilia go to HTCs for annual checkups, even if it means traveling some distance to do so.

At an HTC, you or your child may be able to take part in clinical research and benefit from the latest research findings on hemophilia. The HTC team also will work with your local health care providers to help meet your needs or your child's needs.

Ongoing Care

If you have hemophilia, you can take steps to avoid complications, such as:

• Follow your treatment plan exactly as your doctor prescribes.
• Get regular checkups and vaccinations as recommended.
• Tell all of your health care providers, such as your doctor, dentist, and pharmacist, that you have hemophilia. You also may want to tell people like your employee health nurse, gym trainer, and sports coach about your condition.
• Get regular dental care. Dentists at the HTCs are experts in providing dental care for people who have hemophilia. If you see another dentist, tell the dentist that you have hemophilia. The dentist can provide medicine that will reduce bleeding during dental work.
• Know the signs and symptoms of bleeding in joints and other parts of the body. Know when to call the doctor or go to the emergency room. For example, you should call your doctor or go to the emergency room for:
  • Heavy bleeding that can't be stopped or a wound that continues to ooze blood.
  • Any signs or symptoms of bleeding in the brain. Such bleeding is life threatening and requires emergency care right away.
  • Limited motion, pain, or swelling of any joint.

It's a good idea to keep a record of all previous treatments. Be sure to take this information with you to medical appointments and to the hospital or emergency room.

If Your Child Is Diagnosed With Hemophilia

Expect emotional, financial, social, and other strains as you adjust to the situation of having a child who has hemophilia. Learn all you can about the disorder and get the support you need.

Talk with doctors and other health care providers about treatment, prevention of bleeding, and what to do in emergencies.

Take advantage of the care teams at the HTCs for education and support as well as treatment. The social worker on the team can help with emotional issues, financial and transportation problems, and other concerns.

Seek the many resources available through the Web, books, and other materials, including those provided by national and local hemophilia organizations.

Look into support groups that offer a variety of activities for children who have hemophilia and for family members. Some groups offer summer camps for children who have hemophilia. Ask your doctor, nurse coordinator, or social worker about these groups and camps.

Challenges will occur as your child grows and becomes more active. In addition to treatment and regular health and dental care, your child needs information about hemophilia that he or she can understand.

Children who have hemophilia also need to be reassured that the condition isn't their fault and given support for having a chronic health problem.

Young children who have hemophilia need extra protection from things in the home and elsewhere that could cause injuries and lead to bleeding:

• Protect toddlers with kneepads, elbow pads, and protective helmets. All children should wear safety helmets when riding tricycles or bicycles.
• Be sure to use the safety belts and straps in highchairs, car seats, and strollers to protect your child from falls.
• Remove furniture with sharp corners or pad them while your child is a toddler.
• Keep out of reach or locked away small and sharp objects and other items that could cause bleeding or harm.
• Check play equipment and outdoor play areas for possible hazards.

You also should learn how to examine your child for and recognize signs of bleeding. Learn to prepare for bleeding episodes when they occur. Keep a cold pack in the freezer ready to use as directed or to take along with you to treat bumps and bruises.

Popsicles work fine when there is minor bleeding in the mouth. You also might want to keep a bag ready to go with items you'll need if you must take your child to the emergency room or elsewhere.

Be sure that anyone who is responsible for your child knows that he or she has hemophilia. Talk with your child's babysitters, daycare providers, teachers, other school staff, and coaches or leaders of afterschool activities about when to contact you or to call 9–1–1 for emergency care.

Consider having your child wear a medical ID bracelet or necklace. If your child is injured, the ID will alert anyone caring for your child about the condition.

Physical Activity and Hemophilia

Physical activity helps keep muscles flexible, strengthens joints, and helps maintain a healthy weight. Children and adults who have hemophilia should get physical activity regularly, but they may have limits on what they can do safely.

People who have mild hemophilia can take part in a variety of activities. Those who have severe hemophilia should avoid contact sports and other activities that are likely to lead to injuries that could cause bleeding.

Physical therapists at HTCs can develop exercise programs tailored to your needs and teach you how to exercise safely.

Talk with your doctor or physical therapist about recommended types of physical activity and sports. In general, some safe physical activities are swimming, biking (wearing a helmet), walking, and golf.

It's usually not safe for people who have bleeding problems to participate in contact sports, such as football, hockey, and wrestling.

To prevent bleeding, you also may be able to take clotting factors prior to exercise or a sporting event.

Medicine Precautions

Some medicines increase the risk of bleeding, such as:

• Aspirin and other medicines that contain salicylates (sa-LIH-sil-ates)
• Ibuprofen, naproxen, and some other nonsteroidal anti-inflammatory medicines

Talk to your doctor or pharmacist about which medicines are safe for you to take.

Treatment at Home and When Traveling

Home treatment with replacement therapy has many benefits. It lets you treat bleeding early, before complications are likely to develop. Home treatment also can save you from having to make frequent trips to the doctor's office or hospital. This can give you more independence and a sense of control over your hemophilia.

However, if you're treating yourself or your child with clotting factors at home, you should take some precautions:

• Follow instructions for storage, preparation, and use of clotting factors and treatment materials.
• Keep a record of all medical treatment.
• Know the signs and symptoms of bleeding, infection, or an allergic reaction, and how to respond appropriately.
• Have someone with you when you treat yourself.
• Know when to call the doctor or 9–1–1.

When you're traveling, be sure to take enough treatment materials along. You should carry with you a letter from your doctor describing your hemophilia and treatment. It's also a good idea to find out in advance where to go for care when out of town.

Cost Issues

Clotting factors are very costly, and many health insurance companies will only pay for clotting factors on a case-by-case basis. It's important to know:

• What your insurance covers
• Whether your insurance has a limit on the dollar amount it will cover and what that amount is
• Whether there are restrictions or waiting periods

As children grow, it's important to learn about available options for insurance. Look into what kinds of health insurance are offered when seeking a job.

Key Points

• Hemophilia is a rare bleeding disorder in which your blood doesn't clot as it should.
• If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and may be life threatening.
• If you have hemophilia, you're missing or have low levels of certain clotting factors, which are proteins that help blood clot. Thus, it can take a long time for your blood to clot after an injury or accident.
• There are two main types of hemophilia. People who have hemophilia A have little to no clotting factor VIII (8). People who have hemophilia B have little to no clotting factor IX (9).
• Hemophilia usually is caused by a defect in one of the genes that determine how the body makes certain blood clotting factors. The genes are located on the X chromosomes, which determine whether a baby is a boy or girl. Hemophilia usually only occurs in males (with very rare exceptions).
• The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. The extent of bleeding depends on the type and severity of the hemophilia. Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
• Your doctor will diagnose hemophilia based on your personal and family medical histories, a physical exam, and the results from blood tests. The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.
• The main treatment for hemophilia is replacement therapy. This treatment involves injecting clotting factors directly into the bloodstream. You may have replacement therapy on a regular basis to prevent bleeding or as needed to stop bleeding when it occurs.
• Replacement therapy often is done at home. Home treatment has many benefits, but being trained to do home treatments properly and safely is important.
• Early treatment for bleeding is important to prevent or limit damage to joints, muscles, or other parts of the body.
• Other treatments for hemophilia include treatment with a man-made hormone and medicines. Researchers also are studying gene therapy as a potential treatment for hemophilia.
• Hemophilia treatment centers are located in many areas of the United States. These centers can provide treatment, education, and support to hemophilia patients, their families, and their health care providers.
• If you or your child has hemophilia, you can take steps to prevent bleeding problems. Get ongoing care and follow your treatment plan as prescribed, try to protect infants and toddlers who have hemophilia from injuries, find out what physical activities are safe for you or your child, and talk to your doctor about what medicines are safe for you.
• Thanks to improvements in treatment, a child who has hemophilia today is likely to live a normal lifespan.

Links to Other Information About Hemophilia

NHLBI Resources

• Blood Diseases and Resources Information

Non-NHLBI Resources

• Hemophilia (MedlinePlus)
• Hemophilia Treatment Centers (Centers for Disease Control and Prevention)

Clinical Trials

• Current Research (ClinicalTrials.gov)
• NHLBI Pediatric Clinical Trials