Signs and symptoms

Signs and symptoms may include:

• Many large or deep bruises
  
  
• Joint pain and swelling caused by internal bleeding
  
  
• Bleeding within your muscles
  
  
• Blood in your urine or stool
  
  
• Prolonged bleeding from cuts or injuries, or after surgery or tooth extraction

At first, a baby with hemophilia usually won't have many problems related to hemophilia because of limited mobility. But as your baby begins to move around, falling and bumping into things, superficial bruises may occur. This bleeding into soft tissue may become more frequent the more active your child becomes. Most of the time, these bumps and bruises aren't serious and don't require medical treatment.

Emergency signs and symptoms of hemophilia may include:

• Bleeding into your head, neck or digestive tract
  
  
• Sudden pain, swelling, and warmth of large joints, such as knees, elbows, hips, and shoulders, and of the muscles of your arms and legs
  
  
• Bleeding from an injury, especially if you have a severe form of hemophilia

Causes

Three categories of blood proteins play a role in blood clotting. Procoagulant proteins help form clots. Anticoagulant proteins prevent formation of clots. Fibrinolytic proteins help dissolve clots that have formed.

The clotting process involves blood particles called platelets and procoagulant plasma proteins called clotting factors. The process begins when platelets stick to a blood vessel at the site of an injury. An intricate cascade of enzyme reactions occurs to produce a weblike protein network that encircles the platelets and holds them in place (platelet phase) to form the clot (coagulation phase). In this cascade, each clotting factor is transformed, in turn, from an inactive to an active form.

The cause of hemophilia is a deficiency of one of several of your blood's clotting factors. There are three types, all inherited disorders:

• Hemophilia A, the most common type, is caused by lack of enough clotting factor VIII.
  
  
• Hemophilia B is caused by lack of enough clotting factor IX.
  
  
• Hemophilia C, extremely rare in the United States, is caused by lack of clotting factor XI.

Hemophilia A and B occur almost always in boys. Generally, hemophilia A and B are passed from mother to son through one of the mother's genes. Men cannot pass along the gene that causes hemophilia to their sons. Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from their mother and an X chromosome from their father. Males inherit an X chromosome from their mother and a Y chromosome from their father. The gene that causes hemophilia A or B is located on the X chromosome. Most women who have the defective gene that causes hemophilia are simply carriers and exhibit no signs or symptoms of hemophilia. It's also possible for hemophilia A or B to occur through spontaneous mutation of a gene.

Hemophilia C can occur in both boys and girls. The defective gene that causes hemophilia C can be passed on to children by mothers and fathers in a different inheritance pattern than occurs with hemophilia A and B.

When to seek medical advice

If you're pregnant or considering a pregnancy and have a family history of hemophilia, talk to your doctor. It's possible to test your child during pregnancy to see whether he or she has inherited hemophilia. If your baby boy hasn't been circumcised and bruises easily as he becomes more mobile, see your doctor.

Screening and diagnosis

Screening and diagnosis of hemophilia may occur in several ways. For people with a family history of hemophilia, it's possible to test the fetus during pregnancy to determine if the child is affected by the disease.

Prolonged bleeding following circumcision may be the first indication that a baby boy has hemophilia. On occasion, in boys who aren't circumcised, easy bruising when the child becomes more mobile between the ages of 9 and 18 months may lead to the diagnosis.

Analysis of a blood sample from either a child or an adult can show a deficiency of a clotting factor. Sometimes, mild hemophilia isn't diagnosed until a person has surgery and excessive bleeding results.

Children's Health Center

Complications

Complications may occur from the disease or from treatment for the disease:

• Deep internal bleeding. Hemophilia may cause deep-muscle bleeding. Swelling of a limb may press on nerves and lead to numbness or pain. This may result in a reluctance to use the limb.
  
  
• Damage to joints. Internal bleeding may also put pressure on and damage joints. Pain sometimes may be severe, and you may be reluctant to use a limb or move a joint. If bleeding occurs frequently and isn't adequately treated, the irritation to a joint may lead to destruction of the joint or to the development of arthritis.
  
  
• Infection. People with hemophilia are more likely to receive blood transfusions and are at greater risk of receiving contaminated blood products. Until the mid-1980s, it was more common for people with hemophilia to become infected with the human immunodeficiency virus (HIV) or with hepatitis through contaminated blood products. Since then, blood products are much safer because of steps taken to purify and screen the supply of donated blood. The risk of infection through blood products has decreased substantially since the introduction of genetically engineered clotting products called recombinant factors, which are free of infection. However, it's still possible for people who rely on blood products to contract other diseases. If you have hemophilia, consider receiving immunization against hepatitis B.
  
  
• Adverse reaction to clotting factor treatment. Some people with hemophilia develop proteins in their blood that inactivate clotting factors used to treat bleeding.

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Treatment

Treatment of hemophilia varies with its severity:

• Mild hemophilia A. Your doctor may slowly inject desmopressin (DDAVP) into one of your veins to stimulate a release of more of your own clotting factor to stop the bleeding. Occasionally, desmopressin is given as a nasal medication.
  
  
• Severe hemophilia A or hemophilia B. Your bleeding may stop only after an infusion of clotting factor derived from donated human blood or from genetically engineered products called recombinant clotting factors. You may need repeated infusions if the internal bleeding is serious. Your doctor may also suggest preventive use of clotting factor to avoid bleeding episodes before they begin.
  
  
• Hemophilia C. Plasma infusions are needed to stop bleeding episodes.

Infusion of a clotting factor two or three times a week may help prevent bleeds. This approach may be a way to reduce time spent in the hospital and away from home, work, or school, and to limit side effects such as damage to joints. Your doctor can train you to do your own infusions of desmopressin or of clotting factor at home, work or school.

If you've had repeated bouts of bleeding into your joints that have damaged or destroyed your joints, you may need to have that joint replaced with an artificial joint.

For minor cuts

If you or your child experiences a small cut or scrape, using pressure and a bandage will take care of the wound. For small areas of bleeding beneath the skin, use an ice pack.

Cuts and scrapes DESMOPRESSIN (Systemic)

Coping Strategies

For joint care

These steps may help take care of damaged joints or protect joints:

• Physical therapy. If internal bleeding has damaged your joints, physical therapy can help damaged joints function better. Therapy can preserve the mobility of joints and help prevent frozen or badly deformed joints.
  
  
• Exercise. Activities such as swimming, bicycle riding and walking can build up your muscles while protecting your joints. Don't engage in contact sports.

If you have hemophilia, wear a medical alert bracelet to let medical personnel know of your condition and the type of clotting factor that's best for you in case of an emergency.

These other tips can help you and your child cope with hemophilia:

• Let people know. Be sure to inform anyone who will be taking care of your child — a baby sitter, workers at your child-care center, relatives, friends and teachers — about your child's condition. Because it's also OK to let your child engage in noncontact organized sports, be sure to let coaches know, too.
  
  
• Comfort your child. Stay calm and reassure your child during injections and infusions. Encourage and praise your child when the treatment is complete.

— September 14, 2001 —

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