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
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
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
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
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
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
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
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
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
Complete blood count
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
- 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
Complications of hemophilia can
- Bleeding in the joints or muscles
- Inflammation of the joint lining
- Long-term joint problems
- Development of antibodies against
- 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
- 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 to Call a Healthcare Provider
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
you should call or seek medical care.
Call your healthcare provider for
any of the following:
- An injury
- 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
- 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
- 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
- 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
- If you have a follow-up appointment, write down the date, time, and purpose for that
- Know how you can contact your provider if you have questions.