Hemophilia

Hemophilia is an inherited bleeding disorder. People with hemophilia bleed easily because they don’t have enough clotting factor 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. Two common factors that affect blood clotting are factor VIII and factor IX.

How severe the hemophilia is depends on the level of blood clotting factors in your blood.

The 3 main forms of hemophilia include:

• Hemophilia A. This is caused by a lack of the blood clotting factor VIII. 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 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. 

Hemophilia types A and B are inherited 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.

• 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.

Carriers of the hemophilia gene 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

Hemophilia C usually doesn’t cause problems, but people may have increased bleeding after surgery. 

The most common symptom of this disorder is heavy, uncontrollable bleeding. 

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 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 is less than 1%. Bleeding can occur even with the minimal activities of daily life. Bleeding may also occur from no known injury. Bleeding most often occurs in the joints 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 teeth or having dental work is often a sign of hemophilia.
• Bleeding into a joint.  Hemarthrosis (bleeding into a joint) can cause pain, immobility, and deformity if not treated. This is the most common site of complications due to hemophilia bleeding. These joint bleeds can lead to chronic, painful, arthritis, deformity, and crippling with repeated occurrences.
• 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.

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

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

• Complete blood count (CBC).  A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells (reticulocytes). It includes hemoglobin and hematocrit and more details about the red blood cells.
• Clotting factors.This is a test to check the levels of each clotting factor.
• Genetic or DNA testing. This is done to check for abnormal genes.

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

Treatment will depend on your or your child’s 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:

• Self-infused factor VIII or IX 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.

Complications of hemophilia can include:

• Bleeding in the joints or muscles
• Inflammation of the joint lining
• Long-term joint problems
• Development of antibodies against clotting factors
• Infections from transfusions (HIV and hepatitis B and C are no longer spread through donated blood because of strict testing of the donated blood)

With careful management, many people with hemophilia can live relatively healthy lives with a normal lifespan.

Managing hemophilia may include:

• Taking part in activities and exercise, but not ones that may cause injury. Talk with the hematologist about which activities are appropriate.
• Getting special care before surgery including dental work. Your healthcare provider may advise factor replacement infusions. These increase clotting levels before the procedures. Specific factor replacement infusions during and after the procedure may also be given. These maintain the clotting factor levels and to improve healing and prevention of bleeding after the procedure.
• Preventing dental and gum problems with good dental hygiene.
• Getting vaccines under the skin instead of in the muscle to prevent bleeding in the muscle.
• Not taking aspirin or other nonsteroidal anti-inflammatory drugs (NSAIDs).
• Wearing medical identification (ID) in the case of an emergency.

When you should call will vary based on how severe the hemophilia is and what treatment you or your child are getting. Since hemophilia is a long-term condition, talk with the healthcare provider about when you should call or seek medical care. 

Call your healthcare provider for any of the following:

• An injury
• Pain
• Bleeding that you can't control
• You or your child are scheduled for surgery or another procedure

• Hemophilia is an inherited bleeding disorder. It causes an affected person to have low levels of blood clotting factors.
• The most common symptom of hemophilia is increased, uncontrollable bleeding.
• Giving factor VIII or IX can allow a person with hemophilia to lead a typical lifestyle.

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.
• Before your visit, write down questions you want answered.
• Bring someone with you to help you ask questions and remember what your provider tells you.
• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
• Ask if your condition can be treated in other ways.
• Know why a test or procedure is recommended and what the results could mean.
• Know what to expect if you do not take the medicine or have the test or procedure.
• If you have a follow-up appointment, write down the date, time, and purpose for that visit.
• Know how you can contact your provider if you have questions.