Hemophilia
Overview
Hemophilia is an inherited bleeding
disorder. People with hemophilia bleed easily because they don’t have enough of one
of
the clotting factors 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. The 2 most common clotting
factors affected by hemophilia are factor VIII and factor IX.
How severe the hemophilia is
depends on the level of blood clotting factors in your blood. The more severe the
hemophilia, the less clotting factor is present. The result is higher bleeding risk
or
more severe hemophilia.
The 3 main forms of hemophilia
include:
-
Hemophilia A. This is
caused by a lack of or low levels of the blood clotting factor VIII. It is the most
common type of hemophilia. 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 or low levels of blood clotting 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. It is
a
rare condition.
Causes
Hemophilia types A and B are
inherited, or genetic, 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. This means that boys are at risk for hemophilia, while girls are much
more
likely to be carriers of the defective gene without symptoms.
- 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 called a mutation.
Carriers of one of the hemophilia
genes 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
Carriers of both of the hemophilia
genes have the disease called hemophilia with more severe bleeding. They will have
a
severe decrease in their clotting factors.
Hemophilia C is a problem with
factor 11. It usually doesn’t cause spontaneous bleeding. But people may have increased
bleeding after surgery.
Symptoms
The most common symptom of this
disorder is heavy, uncontrollable bleeding. Bleeding can be external (cuts, nosebleeds)
or internal (bruises, joint bleeds).
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 serious
injury, 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 levels are less than 1%. Bleeding can occur even with
minimal activities of daily life. Bleeding may also occur from no known injury. Bleeding
most often occurs in the joints, muscles, 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 and flossing teeth or having dental work is often a sign of hemophilia.
-
Bleeding into a joint
(h
emarthrosis). This can cause pain, immobility, and deformity if
not treated. This is the most common site of complications due to hemophilia
bleeding. If joint bleeds keep recurring, they can lead to chronic, painful arthritis
and deformity. They can also make it hard to walk or move correctly.
-
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. Baby boys born with severe
hemophilia may have bleeding after a circumcision that lasts longer than normal.
The symptoms of hemophilia may look
like other health problems. Always check with your healthcare provider for a
diagnosis.
Diagnosis
The diagnosis of hemophilia is
based on your family history, your health history, and a physical exam. Blood tests
include:
-
Complete blood count
(CBC).
A complete blood count checks the red and white blood cells and
platelets (clotting cells). In addition to hemophilia, a low platelet count is
another cause of bleeding disorders. Your healthcare provider will want to make sure
that your platelet count is normal and that a low platelet count is not the cause
of
your bleeding.
-
Screening tests of clotting times. These are called
prothrombin time (PT) and activated partial thromboplastin time (aPTT)
-
Mixing studies with certain clotting factors added. This
is done to see if the clotting time (aPTT) corrects. This clarifies if there is a
deficiency.
-
Clotting factors levels (also called factor activity levels).
This is a test to check the levels of each clotting factor.
-
Genetic or DNA testing. This is done to check for abnormal
genes.
Treatment
Your healthcare provider will
refer you or your child to a hematologist, an expert in blood disorders.
Treatment will depend on 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:
- Infusion of clotting factor
concentrates into a vein. Self-infused factor VIII or IX and other treatment products
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
Complications of hemophilia can
include:
- Bleeding in the joints or muscles
- Inflammation of the joint lining
- Long-term joint problems
- Development of antibodies (also called
inhibitors) against clotting factors
- Pain from joint and muscle bleeds
- Infections from transfusions (HIV and
hepatitis B and C are no longer spread through donated blood because of strict
testing of the donated blood)
Living with
With careful management and the
availability of factor replacement therapy to prevent and treat bleeding, 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 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. If the vaccine must be
given in the muscle, using the smallest gauge needle and putting an ice pack on the
skin before and soon after can help.
- Avoid aspirin or other nonsteroidal
anti-inflammatory drugs (NSAIDs). They increase bleeding risk.
- 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
and is available at home. Since hemophilia is a long-term condition, talk with the
healthcare provider about when you should call or get medical care.
Call your healthcare provider for
any of the following:
- An injury
- New pain
- Pain that gets worse
- Bleeding that you can't control
- You or your child are scheduled for
surgery or another procedure
Key Points
- 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.
- Treatment with factor VIII or IX can
allow a person with hemophilia to manage their disorder well and lead a typical
lifestyle.
Next Steps
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,
including after hours and on weekends and holidays.