Hemophilia

What is hemophilia?

Hemophilia is a bleeding disorder. It is a rare, inherited condition that does not allow the blood to clot normally.

How does it occur?

People born with hemophilia have a defect in one of the genes that determine how the body makes certain blood-clotting factors. As a result, they do not make enough normal clotting factors. Clotting factors are needed for blood to clot normally. (Clotting is also called coagulation.) These genes are located on the X chromosomes, which are the chromosomes that determine if a baby is a boy or girl.

There are 3 types of hemophilia.

Hemophilia A occurs when clotting factor 8 is low or missing.
Hemophilia B happens when factor 9 is low or missing.
Hemophilia C, a much rarer form, occurs when factor 11 is low or missing.

Because of the way hemophilia is inherited, it is much more common in males than females. The disease is usually passed to children from mothers who carry the trait but do not have symptoms. A man with the disease cannot pass it on to his sons. All of his daughters, however, may pass it on to their children.

What are the symptoms?

The main symptom is bleeding that lasts longer than normal after injuries or surgery. You may also have internal bleeding, especially into the joints (knees, ankles, and elbows). Examples of abnormal bleeding are:

bleeding into the scalp after birth
prolonged bleeding after circumcision
excessive bleeding or bruising after minor injuries
easy bleeding, such as nosebleeds
abnormal menstrual bleeding
gastrointestinal bleeding
bleeding into the joints after exercise, causing pain and swelling of the joints.

The first signs in children may be bruising beneath the skin as a child starts to crawl or walk, or bleeding gums when the child gets new teeth.

How is it diagnosed?

Most cases of hemophilia are diagnosed in the first 2 years of a child's life based on family history, unusual bleeding, and blood tests. If the symptoms are mild and hemophilia is not suspected because the family history is not available or does not suggest bleeding problems, the diagnosis may not be made until a child is several years old.

Hemophilia is classified as mild, moderate, or severe, depending on how much clotting factor is in your blood.

How is it treated?

There is no cure for hemophilia but there are treatments that can allow a fairly normal lifestyle. Bleeding is controlled by adding blood-clotting factors to the blood. Treatment choices include:

Mild hemophilia A: Slow injection of a hormone called desmopressin (DDAVP) into a vein stimulates your body to release more clotting factor 8.
Moderate to severe hemophilia A or hemophilia B - Blood products from donated blood, or genetically engineered products called recombinant clotting factors, may be needed to control the bleeding.
Hemophilia C: Transfusions of donated blood products may be needed to control the bleeding.

Your health care provider may want you to have preventive shots of DDAVP or clotting factors given to you at home. This may help prevent bleeding. You may learn how to give the shots to yourself.

You will probably be able to treat minor cuts at home with a bandage and pressure on the wound. If the bleeding does not stop, you will need to talk to your provider or go to the emergency room.

How long will the effects last?

You will have hemophilia all your life.

How can I take care of myself?

Exercise regularly in sports like biking, swimming, and walking. This will keep your muscles strong and protect your joints from injury. Avoid contact sports, such as football or soccer, and other activities that might cause internal bleeding.
Do not take aspirin and ibuprofen. These medicines can cause your stomach to bleed. Use acetaminophen when you need to take medicine for pain.
Take care of your teeth. If you practice good dental hygiene, you may be able to avoid bleeding when you need dental care.
Make sure your friends, family, and coworkers know that you have hemophilia.
Wear a medical alert bracelet or necklace. If you need emergency care, the health care providers will know about your condition.
Hemophilia treatment centers are located in many areas of the US. These centers provide treatment, education, and support to hemophilia patients and their families.
For more information, visit the following Web sites:
- National Institute of Health Web site:
  http://www.nhlbi.nih.gov
- The National Hemophilia Foundation Web site:
  http://www.hemophilia.org.

Disclaimer: This content is reviewed periodically and is subject to change as new health information becomes available. The information provided is intended to be informative and educational and is not a replacement for professional medical evaluation, advice, diagnosis or treatment by a healthcare professional.

HIA File FMY4321F.HTM Release 9.0/2006