Hemophilia

Condition Basics

What is hemophilia?

In hemophilia, blood does not clot properly. This usually happens because your body does not have enough of a certain kind of clotting factor. This makes it harder for bleeding to stop. People with hemophilia may bleed a lot after cuts, during surgery, or even after a fall. Some people have abnormal bleeding inside their bodies for no clear reason.

There are two main types of hemophilia:

• Hemophilia A, also called classic hemophilia, is caused by a lack of active clotting factor VIII (8). It is the most common type of hemophilia.
• Hemophilia B, also called Christmas disease, is caused by a lack of active clotting factor IX (9). It is less common than Hemophilia A.

Hemophilia usually runs in families and almost always affects males.

What causes it?

Hemophilia A and B are caused by changes (mutations) in genes. These changes affect how much clotting factor a person has and how well it works.

What are the symptoms?

Symptoms of hemophilia include:

• Bleeding into a joint or muscle, which causes pain and swelling.
• Bleeding that is not normal after an injury or surgery.
• Easy bruising.
• Frequent nosebleeds.
• Blood in the urine.
• Bleeding after dental work.

Some people with milder types of the disease may not have symptoms until later in life. But most of the time, hemophilia symptoms are noticed during infancy or childhood. Symptoms noticed in infants include:

• Bleeding into the muscle, which causes a deep bruise after the baby gets a routine vitamin K shot.
• Bleeding that goes on for a long time after the infant's heel is pricked to draw blood for newborn screening tests.
• Bleeding that goes on for a long time after a baby is circumcised.
• Bleeding in the scalp or brain after a difficult delivery or after special devices (vacuum or forceps) are used to help deliver the baby.

How is it diagnosed?

Your doctor may ask about your medical history and your family's medical history. You may need to have some tests, such as a blood test or a genetic test.

If your doctor thinks that you may have a problem with blood clotting, your doctor will take a blood sample. The sample will be used in tests that check for the amount of clotting factor. If the level is low, then more tests will find out the type of hemophilia and how severe it is.

How severe the disease is depends on how much clotting factor is produced and when bleeding most often occurs.

Mild hemophilia.

Bleeding problems might not be noticed unless there is a lot of bleeding after a major injury or surgery.

Moderate hemophilia.

Bleeding problems are common and often follow a fall, sprain or strain.

Severe hemophilia.

Bleeding problems often happen one or more times a week for no reason.

If hemophilia runs in your family and you are planning to have children, ask your doctor about tests that can show if you are a carrier. (Only females can be carriers.) This will allow you to make informed decisions about pregnancy and prenatal care.

How is hemophilia treated?

Hemophilia can be treated by replacing missing blood clotting factors. This can be done with clotting factor replacement therapy. Replacement therapy can prevent or treat bleeding episodes.

You may need to take medicines that help prevent bleeding. You might take medicines at certain times, such as before you have surgery or dental work. Talk to your doctor about what options may be right for you.

Hemophilia treatment centres are available at most large medical centres. They are an excellent resource to help you and your family get the best care for this condition.

What can you do at home?

You can take steps at home to prevent bleeding episodes and improve your health.

• Learn how to recognize bleeding episodes so you can start treatment right away.
• Stay at a healthy weight. Additional stress on joints can trigger bleeding episodes.
• Get regular exercise. Choose activities that will keep your muscles and joints in good shape, such as swimming, tai chi, or walking.
• Don't take non-prescription medicines unless your doctor tells you to. And don't take aspirin or other non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen. These can affect the clotting action of your blood.
• Prevent injuries around your home.