Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.
Small cuts usually aren't much of a problem. The greater health concern is deep bleeding inside your body, especially in your knees, ankles and elbows. That internal bleeding can damage your organs and tissues, and may be life-threatening.
Hemophilia is an inherited (genetic) disorder. There's no cure yet. But with proper treatment and self-care, most people with hemophilia can maintain an active, productive lifestyle.
Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding.
Signs and symptoms of spontaneous bleeding include:
Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
Many large or deep bruises
Unusual bleeding after vaccinations
Pain, swelling or tightness in your joints
Blood in your urine or stool
Nosebleeds without a known cause
In infants, unexplained irritability
Emergency signs and symptoms of hemophilia include:
Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles
Bleeding from an injury, especially if you have a severe form of hemophilia
Painful, prolonged headache
When to see a doctor
Prolonged bleeding after circumcision may be the first indication of hemophilia in a baby boy. In boys who aren't circumcised, easy bruising when the child becomes more mobile may lead to the diagnosis. The first episode of bleeding generally occurs by the time a child is 2 years old.
If your child bruises easily, see your doctor. If your child has heavy bleeding that can't be stopped after an injury, seek emergency medical care.
If you're pregnant or considering pregnancy, and have a family history of hemophilia, talk to your doctor. You may be referred to a specialist in medical genetics or bleeding disorders, who can help you determine if you are a carrier of hemophilia. If you are a carrier, it's possible to determine during pregnancy if the fetus is affected by hemophilia.
When you bleed, your body normally pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles (platelets and plasma proteins). Hemophilia occurs when you have a deficiency in one of these clotting factors.
Hemophilia is inherited. However, about 30 percent of people with hemophilia have no family history of the disorder. In these people hemophilia is caused by a genetic change (spontaneous mutation).
There are several types of hemophilia. They are classified according to which clotting factor is deficient:
Hemophilia A, the most common type, is caused by insufficient clotting factor VIII.
Hemophilia B, the second most common type, is caused by insufficient clotting factor IX.
Hemophilia C, in which signs and symptoms are often mild, is caused by insufficient clotting factor XI.
Everyone has two sex chromosomes, one from each parent. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father.
Hemophilia inheritance depends on your type of hemophilia:
Hemophilia A or B. The gene that causes them is located on the X chromosome, so it can't be passed from father to son. Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.
Hemophilia C. This disorder can be passed on to children by either parent. Hemophilia C can occur in girls and boys.
Complications of hemophilia may include:
Deep internal bleeding. Bleeding that occurs in deep muscle can cause your limbs to swell. The swelling may press on nerves and lead to numbness or pain.
Damage to joints. Internal bleeding may also put pressure on your joints, causing severe pain. Left untreated, frequent internal bleeding may cause arthritis or destruction of the joint.
Infection. People with hemophilia are likelier to have blood transfusions, increasing their risk of receiving contaminated blood products. Blood products became safer after the mid-1980s due to screening of donated blood for hepatitis and human immunodeficiency virus (HIV). The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products (recombinant factor concentrates).
Adverse reaction to clotting factor treatment. In some people with hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that inactivate the clotting factors, making treatment less effective.
For people with a family history of hemophilia, it's possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.
In children and adults, a blood test can show a clotting-factor deficiency. Hemophilia is diagnosed at an average age of 9 months and almost always by age 2. Sometimes, mild hemophilia isn't diagnosed until a person undergoes surgery and experiences excessive bleeding.
While there's no cure for hemophilia, most people with the disease can lead fairly normal lives.
Treatment for bleeding episodes
Therapies to stop bleeding depend on the type of hemophilia:
Mild hemophilia A. Slow injection of the hormone desmopressin (DDAVP) into a vein can stimulate a release of more clotting factor to stop bleeding. Occasionally, DDAVP is given as a nasal medication.
Moderate to severe hemophilia A or hemophilia B. Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor derived from donated human blood. Repeated infusions may be needed if internal bleeding is severe.
Hemophilia C. Clotting factor XI, the factor missing in this type of hemophilia, is available only in Europe. In the United States, plasma infusions are needed to stop bleeding episodes.
Your doctor may recommend:
Regular infusions of DDAVP or clotting factor. The infusions can help prevent bleeding. This approach may reduce time spent in the hospital and limit side effects such as damage to joints. Your doctor can show you how to perform the infusions.
Clot-preserving medications (antifibrinolytics). These medications help prevent clots from breaking down.
Fibrin sealants. These medications can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful in dental therapy.
Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. If internal bleeding has caused severe damage, you may need surgery.
First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.
Vaccinations. Although blood products are screened, it's still possible for people who rely on them to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.
To avoid excessive bleeding and protect your joints:
Exercise regularly. Activities such as swimming, bicycle riding and walking can build up muscles while protecting joints. Contact sports — such as football, hockey or wrestling — are not safe for people with hemophilia.
Avoid certain pain medications. Drugs that can aggravate bleeding include aspirin and ibuprofen (Advil, Motrin, others). Instead, use acetaminophen (Tylenol, others), which is a safe alternative for mild pain relief.
Avoid blood-thinning medications. Medications that prevent blood from clotting include heparin, warfarin (Coumadin), clopidogrel (Plavix) and prasugrel (Effient).
Practice good dental hygiene. The goal is to prevent tooth extraction, which can lead to excessive bleeding.
Protect your child from injuries that could cause bleeding. Kneepads, elbow pads, helmets and safety belts all may help prevent injuries from falls and other accidents. Keep your home free of furniture with sharp corners.
Get a medical alert bracelet. This bracelet lets medical personnel know that you or your child has hemophilia, and the type of clotting factor that's best in case of an emergency.
Talk with a counselor. You may be concerned about striking the right balance between keeping your child safe and encouraging as much normal activity as possible. A social worker or therapist with knowledge of hemophilia can help you cope with your concerns and identify the minimum limitations necessary for your child.
Let people know. Be sure to tell anyone who will be taking care of your child — baby sitters, workers at your child care center, relatives, friends and teachers — about your child's condition. If your child plays noncontact sports, be sure to tell coaches, too.