What is hemophilia?

Hemophilia is an inherited bleeding disorder. People with hemophilia bleed easily because they don’t have enough of one of the clotting factors in their blood. Clotting factors are needed for blood to clot. Blood clots to prevent excessive bleeding.

There are many blood clotting factors involved in the forming of clots to stop bleeding. The 2 most common clotting factors affected by hemophilia are factor VIII and factor IX.

How severe the hemophilia is depends on the level of blood clotting factors in your blood. The more severe the hemophilia, the less clotting factor is present. The result is higher bleeding risk or more severe hemophilia.

The 3 main forms of hemophilia include:

• Hemophilia A. This is caused by a lack of or low levels of the blood clotting factor VIII. It is the most common type of hemophilia. About 9 out of 10 people with hemophilia have type A disease. This is also referred to as classic hemophilia or factor VIII deficiency.

• Hemophilia B. This is caused by a deficiency of or low levels of blood clotting factor IX. This is also called Christmas disease or factor IX deficiency.

• Hemophilia C. Some healthcare providers use this term to refer to a lack of clotting factor XI. It is a rare condition.

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What causes hemophilia?

Hemophilia types A and B are inherited, or genetic, diseases. They are passed on from parents to children through a gene on the X chromosome. Females have 2 X chromosomes, while males have 1 X and 1 Y chromosome. This means that boys are at risk for hemophilia, while girls are much more likely to be carriers of the defective gene without symptoms.

• A female carrier has the hemophilia gene on 1 of her X chromosomes. When a hemophilia carrier female is pregnant, there is a 50/50 chance that the hemophilia gene will be passed on to the baby.

  • If the gene is passed on to a son, he will have the disease.

  • If the gene is passed on to a daughter, she will be a carrier.

• If the father has hemophilia but the mother does not carry the hemophilia gene, then none of the sons will have hemophilia disease. But all of the daughters will be carriers.

In about 1/3 of the people with hemophilia, there is no family history of the disorder. In these cases, it’s believed that the disorder could be related to a new gene flaw called a mutation.

Carriers of one of the hemophilia genes often have normal levels of clotting factors but may:

• Bruise easily

• Bleed more with surgeries and dental work

• Have frequent nosebleeds

• Have heavy menstrual bleeding

Carriers of both of the hemophilia genes have the disease called hemophilia with more severe bleeding. They will have a severe decrease in their clotting factors.

Hemophilia C is a problem with factor 11. It usually doesn’t cause spontaneous bleeding. But people may have increased bleeding after surgery.

What are the symptoms of hemophilia?

The most common symptom of this disorder is heavy, uncontrollable bleeding. Bleeding can be external (cuts, nosebleeds) or internal (bruises, joint bleeds).

The severity of hemophilia depends on the amount of clotting factors in the blood. Those affected with hemophilia who have blood clotting factor levels greater than 5% most often have bleeding only with serious injury, major surgeries, or tooth extractions. These people may not even be diagnosed until bleeding complications from a surgery occur.

Severe hemophilia is when the factor VIII or IX levels are less than 1%. Bleeding can occur even with minimal activities of daily life. Bleeding may also occur from no known injury. Bleeding most often occurs in the joints, muscles, and in the head.

Symptoms may include:

• Bruising. Bruises can occur from even small accidents. This can result in a large buildup of blood under the skin causing swelling (hematoma). Children with hemophilia are often diagnosed around 12 to 18 months of age. This is when the child is more active and bruising becomes more apparent.

• Easy bleeding. A tendency to bleed from the nose, mouth, and gums with minor injury. Bleeding while brushing and flossing teeth or having dental work is often a sign of hemophilia.

• Bleeding into a joint (hemarthrosis). This can cause pain, immobility, and deformity if not treated. This is the most common site of complications due to hemophilia bleeding. If joint bleeds keep recurring, they can lead to chronic, painful arthritis and deformity. They can also make it hard to walk or move correctly.

• Bleeding into the muscles. Bleeding into the muscles can cause swelling, pain, and redness. Swelling from excessive blood in these areas can increase pressure on tissues and nerves in the area. This can cause permanent damage and deformity.

• Bleeding in the brain. This can happen from injury or on its own. Bleeding from injury, or spontaneously in the brain, is the most serious bleeding complication and can be life-threatening. Bleeding in or around the brain can occur from even a small bump on the head or a fall. Small bleeds in the brain can result in blindness, intellectual disability, and a variety of neurological deficits. It can lead to death if not spotted and treated right away.

• Other bleeding. Blood found in the urine or stool may also signal hemophilia. Baby boys born with severe hemophilia may have bleeding after a circumcision that lasts longer than normal.

The symptoms of hemophilia may look like other health problems. Always check with your healthcare provider for a diagnosis.

How is hemophilia diagnosed?

The diagnosis of hemophilia is based on your family history, your health history, and a physical exam. Blood tests include:

• Complete blood count (CBC). A complete blood count checks the red and white blood cells and platelets (clotting cells). In addition to hemophilia, a low platelet count is another cause of bleeding disorders. Your healthcare provider will want to make sure that your platelet count is normal and that a low platelet count is not the cause of your bleeding.

• Screening tests of clotting times. These are called prothrombin time (PT) and activated partial thromboplastin time (aPTT)

• Mixing studies with certain clotting factors added. This is done to see if the clotting time (aPTT) corrects. This clarifies if there is a deficiency.

• Clotting factors levels (also called factor activity levels). This is a test to check the levels of each clotting factor.

• Genetic or DNA testing. This is done to check for abnormal genes.

How is hemophilia treated?

Your healthcare provider will refer you or your child to a hematologist, an expert in blood disorders.

Treatment will depend on symptoms, age, and general health. It will also depend on how severe the condition is.

Treatment for hemophilia is aimed at preventing bleeding complications (mainly head and joint bleeds). Treatment may include:

• Infusion of clotting factor concentrates into a vein. Self-infused factor VIII or IX and other treatment products can help a person with hemophilia lead a typical lifestyle. 

• Bleeding in the joint may need surgery or immobilization. Rehab of the affected joint may be needed. This may include physical therapy and exercise to strengthen the muscles around the area.

• Blood transfusions may be needed if major blood loss has occurred. This is when you or your child gets donated blood.