Hemophilia in Children

What is hemophilia in children?

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 2 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 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
    doctors use this term to refer to a lack of clotting factor XI. 

What causes hemophilia in a child?

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 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. 

What are the symptoms of hemophilia in a child?

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, 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.

How is hemophilia diagnosed in a child?

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.