Hemophilia in Children
What is 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.
Two common factors that affect blood clotting 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 children?
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 one-third 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
What are the symptoms of hemophilia?
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 build up 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.
- Bleeds easily. A tendency to bleed from the nose, mouth, and gums with minor injury. Bleeding while
brushing teeth or having dental work often suggests 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 from injury or spontaneously. 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 sources of 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 in children diagnosed?
he 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. To check the levels of each clotting factor.
- Bleeding times. To test the speed that blood clots.
- Genetic or DNA testing. To check for abnormal genes.
How is hemophilia treated?
Your child's healthcare provider will refer you to a hematologist, an expert in blood
disorders. Your child’s health care provider will figure out the best treatment based
- How old your child is
- His or her overall health and medical history
- How sick he or she is
- How well your child can handle specific medications, procedures, or therapies
- How long the condition is expected to last
- Your opinion or preference
Treatment depends on the type and severity of the hemophilia. Treatment for hemophilia
is aimed at preventing bleeding complications (mainly head and joint bleeds). Treatment
- 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
What are the complications of hemophilia?
Complications of hemophilia 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 transmitted
in donated blood)
How is hemophilia managed?
With careful management, many children with hemophilia can live relatively healthy
lives with a normal lifespan.
Managing your child's hemophilia may include:
- Taking part in activities and exercise, but avoiding those that may cause injury.
These include soccer, rugby, wrestling, motocross, and skiing.
- Receiving 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 proper dental hygiene.
- Getting immunizations under the skin instead of in the muscle to prevent bleeding
in the muscle.
- Avoiding aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs).
- Wearing medical identification (ID) in the case of an emergency.
When should I call my child's healthcare provider?
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
Key points about hemophilia in children
- Hemophilia is an inherited bleeding disorder. It causes an affected child 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 child with hemophilia to lead a near normal lifestyle.
Tips to help you get the most from a visit to your child’s health care provider:
- Before your visit, write down questions you want answered.
- At the visit, write down the names of new medicines, treatments, or tests, and any
new instructions your provider gives you for your child.
- If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
- Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.