What Is Hemophilia?

Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited 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, sometimes, be fatal.

 

People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting.

 

When blood vessels are injured, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury to stop the bleeding. Without clotting factors, normal blood clotting can’t take place. Sometimes people with 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 have little to no clotting factor VIII (8). About 9 out of 10 people with hemophilia have type A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX (9).

 

 

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 with mild hemophilia may not have symptoms until they have excessive bleeding from a dental procedure, an accident, or surgery. Males with severe hemophilia may bleed heavily after circumcision. Bleeding can be obvious (external bleeding) or hidden within 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 with hemophilia. This can occur without obvious injury. At first, this 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, and 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
• Changes in behavior or being very sleepy
• Sudden weakness or clumsiness of the arms or legs or difficulty walking
• Double vision
• Convulsions or seizures

How Is Hemophilia Treated?

Treatment With Replacement Therapy

The main treatment for hemophilia is called replacement therapy—giving or replacing the clotting factor that’s too low or missing. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein.

 

Clotting factor concentrates can be made from human blood that has been treated to prevent the spread of diseases, such as hepatitis. With the new methods of screening and treating donated blood, the risk of developing an infectious disease from clotting factors taken from human blood is now 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 takes only 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. Therapy that’s given as needed is less intensive and less expensive than preventive therapy. However, there is a risk that bleeding will cause damage before the as-needed treatment is given.

Complications of Replacement Therapy

Complications of replacement therapy include:

• Developing antibodies, which are proteins that act against the clotting factors
• 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 destroy the clotting factor before it has a chance to work. This is a very serious problem, because it makes the main treatment for hemophilia—replacing clotting factors—no longer effective.

Antibodies to clotting factor develop in about 20 percent of people with severe hemophilia A and 1 percent of people with hemophilia B.

When antibodies develop, doctors may use larger doses of clotting factors or try different sources of the clotting factor. Sometimes, the antibodies go away. Researchers are studying ways to deal with antibodies to clotting factors.

 

Viruses from human blood factors. The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting factors. However, there has been no documented case of these viruses being transmitted during replacement therapy 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 with hemophilia for hepatitis A and B

Researchers continue to find ways to make blood products safer.

Home Treatment With Replacement Therapy

Both preventive and 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 treatment quicker 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.