Pediatric Hemophilia

Hemophilia is an inherited bleeding disorder. Children with hemophilia can’t stop bleeding 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. There are two common factors that affect blood clotting. These are factor VIII and factor IX.

How severe your child’s hemophilia is depends on the level of blood clotting factors in his or her blood.

The three main forms of hemophilia include:

• Hemophilia A. This is caused by a lack of the blood clotting factor VIII. About nine out of ten 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 doctors 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 two X chromosomes, while males have one X and one Y chromosome.

• A female carrier has the hemophilia gene on one 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 children 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. 

When you should call will vary based on how severe your child's condition is and what treatment he or she is getting. Since hemophilia is a long-term condition, talk with your child's healthcare provider about when you should call or get medical treatment for your child.

Call your child's healthcare provider if your child:

• Is injured
• Has pain
• Has bleeding that you cannot control
• Is scheduled for surgery or another procedure

The diagnosis of hemophilia is based on your family history, your child's 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.
• Bleeding times. This is done to test the speed that blood clots.
• Genetic or DNA testing. This is done to check for abnormal genes.

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 that have levels greater than 5% (100% being average for unaffected children) most often have bleeding only with major surgeries or tooth extractions. These children 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 in these children, 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.

Your child's symptoms may also include:

• Bruising. Bruises can occur from even small accidents. This can result in a large buildup of blood under the skin causing swelling (hematoma). For this reason, most children are diagnosed around 12 to 18 months of age. This is when the child is more active.
• 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 common cause of death in children with hemophilia and the most serious bleeding complication. 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 or 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 child's doctor for a diagnosis.

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

Treatment will depend on 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:

• Bleeding in the joint may need surgery or immobilization. Your child may need rehab of the affected joint. 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 your child gets donated blood.
• Self-infused factor VIII or IX can allow a child with hemophilia to lead a near normal lifestyle.  

Complications of hemophilia can include:

• Bleeding in the joints or muscles
• Inflammation of the joint lining
• Long-term joint problems
• Very serious tumor-like enlargements, of the muscle and bone
• Development of antibodies against clotting factors
• Infections from transfusions (HIV and hepatitis B and C are no longer spread through donated blood)

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

Managing your child's hemophilia may include:

• Letting your child take part in activities and exercise, but not ones that may cause injury. These include soccer, rugby, wrestling, motocross and skiing. 
• Getting special care before surgery including dental work. Your child's doctor may advise factor replacement infusions. These increase the child's clotting levels before the procedures. Your child may also get the specific factor replacement infusions during and after the procedure. 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 giving your child aspirin or other nonsteroidal anti-inflammatory drugs (NSAIDs).
• Wearing medical identification (ID) in the case of an emergency.