What Is Hemophilia?
Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited
bleeding disorder in which your blood doesn’t clot normally. If you have
hemophilia, you may bleed for a longer time than others after an injury. You
also may bleed internally, especially in your knees, ankles, and elbows. This
bleeding can damage your organs or tissues and, sometimes, be fatal.
People born with hemophilia have little to none of a
protein needed for normal blood clotting. The protein is called a clotting
factor. There are several types of clotting factors, and they work together
with platelets to help the blood clot. Platelets are small pieces of blood
cells that are formed in the bone marrow. They play a major role in blood
clotting.
When blood vessels are injured, clotting factors
help the platelets stick together to plug cuts and breaks at the site of the
injury to stop the bleeding. Without clotting factors, normal blood clotting
can’t take place. Sometimes people with hemophilia need injections of a
clotting factor or factors to stop bleeding.
There are two main types of hemophilia. If you have
hemophilia A, you have little to no clotting factor VIII (8). About 9 out of 10
people with hemophilia have type A. If you have hemophilia B, you’re
missing or have low levels of clotting factor IX (9).
Hemophilia can be mild, moderate, or severe,
depending on how much clotting factor is in the blood. About 7 out of 10 people
who have hemophilia A have the severe form of the disorder. People who
don’t have hemophilia have a factor VIII activity of 100 percent; people
who have severe hemophilia A have a factor VIII activity of less than 1
percent.
In addition to being inherited, hemophilia also can
be acquired, which means that you can develop it during your lifetime. It can
develop if your body forms antibodies to the clotting factors in your
bloodstream. The antibodies can block the clotting factors from working. Only
inherited hemophilia is discussed in this article.
About 18,000 people in the United States have
hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia
usually occurs only in males (with very rare exceptions).
Other Names for Hemophilia
Hemophilia A
- Classic hemophilia
- Factor VIII deficiency
Hemophilia B
- Christmas disease
- Factor IX deficiency
What Causes Hemophilia?
If you have inherited hemophilia, you’re born
with the condition. It’s caused by a defect in one of the genes that
determine how the body makes blood clotting factors VIII or IX. These genes are
located on the X chromosomes (KRO-muh-somz).
Chromosomes come in pairs. Females have two X
chromosomes, while males have one X and one Y chromosome. Only the X chromosome
carries the genes related to clotting factors.
A male who has the abnormal gene on his X chromosome
will have hemophilia. A female must have the abnormal gene on both of her X
chromosomes to have hemophilia; this is very rare.
A female is a carrier of hemophilia if
she has the abnormal gene on one of her X chromosomes. Even though she
doesnt have the condition, she can pass the gene on to her children.
Below are two examples of how the hemophilia gene is
inherited.
Inheritance Pattern for
Hemophilia—Example 1
The diagram shows one example of
how the hemophilia gene is inherited. In this example, the father doesn't have
hemophillia (that is, he has two normal chromosomes—X and Y). The mother
is a carrier of hemophilia (that is, she has one abnormal X chromosome and one
normal X chromosome). Each daughter has a 50 percent chance of inheriting the
abnormal gene from her mother and being a carrier. Each son has a 50 percent
chance of inheriting the abnormal gene from his mother and having hemophilia.
Inheritance Pattern
for Hemophilia—Example 2
The diagram shows one example of how
the hemophilia gene is inherited. In this example, the father has hemophilia
(that is, his X chromosome is abnormal). The mother isn’t a carrier of
hemophilia (that is, she has two normal X chromosomes). Each daughter will
inherit the abnormal gene from her father and be a carrier. None of the sons
will inherit the abnormal gene from their father, and, therefore, none will
have hemophilia.
Females who are carriers usually have enough
clotting factors from their one normal X chromosome to prevent serious bleeding
problems.
Very rarely, a girl is born with hemophilia. This
can happen if her father has hemophilia and her mother is a carrier.
Some males with the disorder are born to mothers who
aren’t carriers. In these cases, a mutation (random change) occurs in the
gene as it is passed to the child.
What Are the Signs and Symptoms of Hemophilia?
The major signs and symptoms of hemophilia are
excessive bleeding and easy bruising.
Excessive Bleeding
The extent of bleeding depends on the type and
severity of the hemophilia. Children with mild hemophilia may not have symptoms
until they have excessive bleeding from a dental procedure, an accident, or
surgery. Males with severe hemophilia may bleed heavily after circumcision.
Bleeding can be obvious (external bleeding) or hidden within the body (internal
bleeding).
Signs of excessive external bleeding include:
- Bleeding in the mouth from a cut or bite or from
cutting or losing a tooth
- Nosebleeds for no obvious reason
- Heavy bleeding from a minor cut
- Bleeding from a cut that resumes after stopping
for a short time
Signs of internal bleeding include blood in the
urine (from bleeding in the kidneys or bladder) and blood in the stool (from
bleeding in the intestines or stomach).
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is
another common form of internal bleeding in people with hemophilia. This can
occur without obvious injury. At first, this bleeding causes tightness in the
joint with no real pain or any visible signs of bleeding. The joint then
becomes swollen, hot to touch, and painful to bend.
Swelling continues as bleeding continues, and
eventually movement in the joint is temporarily lost. Pain can be severe. Joint
bleeding that isnt quickly treated can permanently damage the joint.
Bleeding in the Brain
Internal bleeding in the brain is a very serious
complication of hemophilia that can happen after a simple bump on the head or a
more serious injury. The signs and symptoms of bleeding in the brain
include:
- Long-lasting painful headaches or neck pain or
stiffness
- Repeated vomiting
- Changes in behavior or being very sleepy
- Sudden weakness or clumsiness of the arms or legs
or difficulty walking
- Double vision
- Convulsions or seizures
How Is Hemophilia Diagnosed?
If hemophilia is suspected or if you appear to have
a bleeding problem, your doctor will take a personal and family medical
history. This will reveal whether you or anyone in your family has a history of
frequent and/or heavy bleeding and bruising. Your doctor also will do a
physical exam and order blood tests.
Blood tests are used to determine:
- How long it takes for your blood to clot
- Whether your blood has low levels of any of the
clotting factors
- Whether one of the factors is completely missing
from your blood
The test results will show if you have hemophilia,
what type of hemophilia you have, and how severe it is.
Hemophilia A and B are classified as mild, moderate,
or severe, depending on the amount of clotting factor VIII or IX in the
blood.
Mild hemophilia |
530 percent of normal factor |
Moderate hemophilia |
15 percent of normal factor |
Severe hemophilia |
Less than 1 percent of normal factor |
The degree of symptoms can overlap between the
categories. For example, some people with mild hemophilia may have bleeding
problems almost as often or as problematic as some people with moderate
hemophilia.
Severe hemophilia can cause serious bleeding
problems in babies. Therefore, children with severe hemophilia are usually
diagnosed during the first year of life. People with milder forms of hemophilia
may not be diagnosed until they're adults.
The bleeding problems of hemophilia A and hemophilia
B are the same. Only special blood tests can tell which type a person has.
Knowing which type is important because the treatments are different.
Pregnant women who are known carriers of hemophilia
can have the condition diagnosed in their unborn child as early as 10 weeks
into their pregnancy.
Women who are hemophilia carriers also can have
preimplantation diagnosis to have a child without hemophilia. For
this process, women have their eggs removed and then fertilized by sperm in a
laboratory. The embryos that result from this fertilization are then tested for
hemophilia. Only embryos that lack the condition will then be implanted in the
womb.
How Is Hemophilia Treated?
Treatment With Replacement Therapy
The main treatment for hemophilia is called
replacement therapygiving or replacing the clotting factor thats
too low or missing. Concentrates of clotting factor VIII (for hemophilia A) or
clotting factor IX (for hemophilia B) are slowly dripped in or injected into a
vein.
Clotting factor concentrates can be made from human
blood that has been treated to prevent the spread of diseases, such as
hepatitis. With the new methods of screening and treating donated blood, the
risk of developing an infectious disease from clotting factors taken from human
blood is now very small.
To further reduce that risk, you or your child can
take clotting factor concentrates that dont use human blood. These are
called recombinant clotting factors. Clotting factors are easy to store, mix,
and use at homeit takes only about 15 minutes to receive the factor.
You may have replacement therapy on a regular basis
to prevent bleeding. This is called preventive or prophylactic
(PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop
bleeding when it occurs. This use of the treatment, on an as-needed basis, is
called demand therapy. Therapy thats given as needed is less intensive
and less expensive than preventive therapy. However, there is a risk that
bleeding will cause damage before the as-needed treatment is given.
Complications of Replacement Therapy
Complications of replacement therapy include:
- Developing antibodies, which are proteins that
act against the clotting factors
- Developing viral infections from human clotting
factors
- Damage to joints, muscles, or other parts of the
body resulting from delays in treatment
Antibodies to the clotting factor.
Antibodies destroy the clotting factor before it has a chance to work. This is
a very serious problem, because it makes the main treatment for
hemophiliareplacing clotting factorsno longer effective.
Antibodies to clotting factor develop in about 20
percent of people with severe hemophilia A and 1 percent of people with
hemophilia B.
When antibodies develop, doctors may use larger
doses of clotting factors or try different sources of the clotting factor.
Sometimes, the antibodies go away. Researchers are studying ways to deal with
antibodies to clotting factors.
Viruses from human blood factors.
The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting
factors. However, there has been no documented case of these viruses being
transmitted during replacement therapy for about a decade. Transmission of
viruses has been prevented by:
- Careful screening of blood donors
- Testing of donated blood products
- Treating donated blood products with a detergent
and heat to destroy viruses
- Vaccinating people with hemophilia for hepatitis
A and B
Researchers continue to find ways to make blood
products safer.
Home Treatment With Replacement
Therapy
Both preventive and as-needed replacement therapy
can be done at home. Many people learn to do the infusions at home for their
child or for themselves. Home treatment has several advantages:
- You or your child can get treatment quicker when
bleeding happens. Early treatment means that fewer complications are likely to
occur.
- Fewer visits to the doctor or emergency room are
needed.
- Home treatment costs less than treatment in a
medical care setting.
- Home treatment helps children accept treatment
and take responsibility for their own health.
Discuss options for home treatment with your doctor
or your childs doctor. A doctor or other health care provider can teach
you the steps and safety procedures for home treatment. Another valuable
resource for learning about home treatment is hemophilia treatment centers
(discussed under Living With
Hemophilia).
Vein access devices can be surgically implanted to
make it easier to get into a vein for treatment with replacement therapy. These
devices can be helpful when such treatment occurs often. However, infections
can be a problem with these devices. Your doctor can help you decide whether
this type of device is right for you or your child.
Other Types of Treatment
Desmopressin
Desmopressin (DDAVP) is a man-made hormone used to
treat people with mild to moderate hemophilia A. DDAVP cant be used to
treat hemophilia B or severe hemophilia A.
DDAVP stimulates the release of stored factor VIII
and von
Willebrand factor and increases the level of these proteins in your blood.
Von Willebrand factor carries and binds factor VIII, which then can stay in the
bloodstream longer.
DDAVP usually is given by injection or in a nasal
spray. Because the effect of this medicine wears off when used often, its
given only in certain situations. For example, your doctor may have you take
this medicine prior to dental work or before playing certain sports to prevent
or reduce bleeding.
Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic
acid and aminocaproic acid) may be used with replacement therapy. They're
usually given as a pill, and they help keep clots from breaking down.
Theyre most often used:
- Before dental work
- For treating bleeding from the mouth or nose
- For mild intestinal bleeding
Gene Therapy
Researchers are trying to develop ways to correct
the defective genes that cause hemophilia to cure the disorder. Such gene
therapy hasnt yet developed to the point that its an accepted
treatment. But researchers continue to test gene therapies for hemophilia in
clinical trials.
Which Treatment Is Best for You?
The type of treatment you or your child receives
depends on several things, including how severe the hemophilia is, what
activities you will be doing, and what dental or medical procedures you will be
having.
- Mild hemophiliaReplacement therapy
isnt usually needed for mild hemophilia. But DDAVP is sometimes given to
raise the bodys levels of factor VIII.
- Moderate hemophiliaYou may need replacement
therapy only when bleeding occurs or to prevent bleeding that could occur when
participating in some activity. DDAVP is another treatment option on occasion,
prior to having a procedure or doing an activity that increases the risk of
bleeding.
- Severe hemophiliaYou usually need
replacement therapy to prevent bleeding that could cause permanent damage to
your joints, muscles, or other parts of the body. Typically, replacement
therapy is given at home two or three times a week. It may be needed on a
long-term basis or just for short periods when you expect to do an activity
that might increase your risk of bleeding. However, some people with severe
hemophilia receive treatment only when bleeding occurs.
For all types of hemophilia, getting treatment
quickly for bleeding to limit damage is important. Learn to recognize signs of
bleeding. Family members also should learn to watch for signs of bleeding in a
child with hemophilia. Children sometimes ignore signs of bleeding because they
want to avoid the discomfort of treatment.
Living With Hemophilia
If you or your child has hemophilia, you can take
steps to prevent bleeding problems. Thanks to improvements in treatment, a
child with hemophilia today is likely to live a normal lifespan.
Hemophilia Treatment Centers
A nationwide network of hemophilia treatment centers
(HTCs), funded by the Federal Government, is an important resource for families
and people affected by hemophilia. The medical experts in HTCs provide
treatment, education, and support. They can teach you or your family member how
to do home treatments. Center staff also can provide information to your
doctor.
People who get care in HTCs are less likely than
those who get care elsewhere to have bleeding complications and
hospitalizations, and theyre more likely to have a better quality of
life. This may be due to the centers emphasis on prevention of bleeding
and the education and support provided to patients and their caregivers.
More than 100 federally funded HTCs are located
throughout the United States. Many HTCs are located at major university medical
and research centers. The hemophilia teams at these centers include:
- Nurse coordinators
- Pediatricians and adult and pediatric
hematologists (doctors who specialize in blood disorders)
- Social workers (who can help with financial
issues, transportation, mental health, and other issues)
- Physical therapists and orthopedists (doctors who
specialize in disorders of the bones and joints)
- Dentists
To find an HTC located near you, go to the
directory of HTCs on the Centers for Disease Control and
Prevention Web site. Many people with hemophilia go to an HTC for annual
checkups, even if it means traveling some distance to do so.
At an HTC, you or your child may be able to
participate in clinical research and benefit from the latest research findings
about hemophilia treatment. The HTC team also will work with your local health
care providers to help meet your needs or your childs needs.
Ongoing Health Care Needs
To avoid complications, its important that
people who have hemophilia:
- Continue any treatment prescribed for
hemophilia.
- Get regular checkups and vaccinations as
recommended. Vaccines for hepatitis A and B are recommended for those who are
treated with blood transfusions. There is currently no vaccine for hepatitis C.
- Tell all of your health care providers, such as
your doctor, dentist, and pharmacist, that you have hemophilia. You also may
want to tell people like your employee health nurse, gym trainer, and sports
coach about your condition.
- Get regular dental care. Dentists at the HTCs are
experts in providing dental care for people who have hemophilia. If you see
another dentist, tell the dentist that you or your child has hemophilia. The
dentist can provide medicine that will reduce bleeding during dental work.
- Know the signs
and symptoms of bleeding in joints and other parts of the body and when to
call the doctor or go to the emergency room.
Contact your doctor or go to the emergency room
for:
- Heavy bleeding that cant be stopped or a
wound that continues to ooze blood.
- Any signs or symptoms of bleeding in the brain.
Such bleeding is life threatening and requires immediate emergency care.
- Limited motion, pain, or swelling of any
joint.
Its a good idea to keep a record of all
previous treatments. Be sure to take this information with you to medical
appointments and to the hospital or emergency room.
When Your Child Is Diagnosed With Hemophilia
Expect emotional, financial, social, and other
strains as you adjust to the situation of having a child with hemophilia. Learn
all you can about the disorder and get the support you need.
- Talk with doctors and other health care providers
about treatment, prevention of bleeding, and what to do in emergencies.
- Take advantage of the care teams at the HTCs for
education and support as well as treatment. The social worker on the team can
help with emotional issues, financial and transportation problems, and other
concerns.
- Seek the many resources available through the
Web, books, and other materials, including those provided by national and local
hemophilia organizations.
- Look into support groups that offer a variety of
activities for children with hemophilia and for family members. Some groups
offer summer camps for children with hemophilia. Ask your doctor, nurse
coordinator, or social worker about these groups and camps, or contact your
local chapter of the
National Hemophilia Foundation.
Challenges will occur as your child grows and
becomes more active. In addition to treatment and regular health and dental
care, your child needs information about hemophilia thats at his or her
level. Children with hemophilia also need to be reassured that the condition
isnt their fault and given support for having a chronic health
problem.
Young children with hemophilia need extra protection
from things in the home and elsewhere that could cause injuries and lead to
bleeding:
- Protect toddlers with kneepads, elbow pads, and
protective helmets. All children should wear safety helmets when riding
tricycles or bicycles.
- Be sure to use the safety belts and straps in
highchairs, car seats, and strollers to protect the child from falls.
- Remove furniture with sharp corners or pad them
while the child is a toddler.
- Keep out of reach or locked away small and sharp
objects and other items that could cause bleeding or harm.
- Check play equipment and outdoor play areas for
possible hazards.
You also need to learn how to examine your child for
and recognize signs of bleeding as well as prepare for bleeding episodes when
they do occur. Keep a cold pack in the freezer ready to use as directed or to
take along with you to treat bumps and bruises. Popsicles work fine when there
is minor bleeding in the mouth. You also might want to keep a bag ready to go
with items you will need if you must take your child to the emergency room or
elsewhere.
Be sure that anyone who is responsible for your
child knows that he or she has hemophilia. Talk with your childs
babysitters, daycare providers, teachers, other school staff, and coaches or
leaders of afterschool activities about when to contact you or to call
911 for emergency care.
Consider having your child wear a medical ID
bracelet or necklace. If your child is injured, the ID will alert anyone caring
for your child about the condition.
Physical Activity and Hemophilia
Physical activity helps keep muscles flexible,
strengthens joints, and helps maintain a healthy weight. Children and adults
with hemophilia should get regular physical activity, but they may have limits
on what they can do safely.
People with mild hemophilia can participate in a
variety of activities. Those with severe hemophilia should avoid contact sports
and other activities that are likely to lead to injuries that could cause
bleeding.
The physical therapist at the HTC can develop an
exercise program tailored to your needs and teach you how to exercise safely.
Talk with your doctor or physical therapist about recommended types of physical
activity and sports.
To prevent bleeding, you also may be able to take
clotting factors prior to exercise or a sporting event.
In general, some safe physical activities are
swimming, biking (wear a helmet), walking, and golf.
Activities that arent usually considered safe
for those with bleeding problems include most contact sports, such as football,
hockey, and wrestling.
Medicine Precautions
Some medicines increase the chance for bleeding. You
should avoid medicines such as:
- Aspirin and other drugs that contain salicylates
(sa-LIH-sil-ates)
- Ibuprofen (EYE-boo-pro-fen), naproxen, and some
other nonsteroidal anti-inflammatory drugs
For more information about medicines to avoid, talk
to your doctor or pharmacist.
Treatment at Home and When Traveling
Home treatment with replacement therapy has many
benefits. It lets you treat bleeding early before complications are likely to
develop. Home treatment also can save you from having to make frequent trips to
the doctors office or hospital. This can give you more independence and a
sense of control over your hemophilia.
But if youre treating yourself or your child
with clotting factors at home, you should take some precautions:
- Follow instructions for storage, preparation, and
use of clotting factors and treatment materials.
- Keep a record of all medical treatment.
- Know the signs and symptoms of bleeding,
infection, or an allergic reaction, and how to respond appropriately.
- Have someone with you when you treat
yourself.
- Know when to call the doctor or
911.
When youre traveling, be sure to take enough
treatment materials along. You should carry with you a letter from your doctor
describing your hemophilia and treatment. Its also a good idea to find
out in advance where to go for care when out of town.
Cost Issues
Clotting factors are very costly, and many health
insurance companies will only pay for clotting factors on a case-by-case basis.
Its important to know:
- What your insurance covers
- Whether your insurance has a limit on the dollar
amount it will cover and what that amount is
- Whether there are restrictions or waiting
periods
As children grow, its important to learn about
available options for insurance. Look into what kinds of health insurance are
offered when seeking a job.
Key Points
- Hemophilia is a rare bleeding disorder that
causes excessive bleeding and easy bruising. Hemophilia almost always occurs in
males.
- If you have hemophilia, you have little to none
of certain clotting factors, which are proteins that help blood clot. Thus, it
can take a long time for your blood to clot after an injury or accident.
Bleeding also often occurs internally, especially in the joints.
- There are two main types of hemophilia: A and B.
People with hemophilia A have low levels of clotting factor VIII (8) or are
missing it altogether. People with hemophilia B have low levels of clotting
factor IX (9) or are missing it altogether.
- Hemophilia is usually caused by a defect in one
of the genes that determine how the body makes certain blood-clotting factors.
The genes are located on the X chromosomes, which determine whether a baby is a
boy or girl.
- To diagnose hemophilia, your doctor will take a
personal and family medical history, do a physical exam, and order blood tests.
The tests will show whether you have a bleeding problem, whether it’s due
to hemophilia or another cause, and how severe the disorder is.
- The main treatment for hemophilia is injecting
the low or missing clotting factors directly into the bloodstream. This is
called replacement therapy.
- Replacement therapy sometimes can be given on a
long-term basis to prevent bleeding. People with severe hemophilia are more
likely to receive this type of preventive replacement therapy.
- Replacement therapy also can be given as needed
to stop bleeding when it occurs. This therapy is more common for people with
milder hemophilia.
- Early treatment for bleeding is important to
prevent or limit damage to joints, muscles, or other parts of the body.
- Replacement therapy is often done at home. Home
treatment has many benefits, but being trained to do home treatments properly
and safely is important.
- Physical activity is important for children and
adults. Talk with your doctor about the type of activity that’s best for
you or for your child and what to do to prevent injuries.
- Hemophilia treatment centers are located in many areas of the
United States. These centers can provide treatment, education, and support to
hemophilia patients, their families, and their health care providers.
Links to Other Information About Hemophilia
NHLBI
Non-NHLBI Resources
Clinical Trials
|