Bumps and scrapes are a normal part of childhood. For most kids, a tumble off a
bike or a stray kick in a soccer game means a temporary bruise or a cut that heals
with a scab. However, for kids with hemophilia, these everyday mishaps are cause
What Is Hemophilia?
Hemophilia is a disease that prevents blood
from clotting properly. Clotting helps stop bleeding after a cut or injury. If clotting
doesn't happen, a wound can bleed too much.
Bleeding can be:
external: on the outside of the body, where it's visible
internal: on the inside of the body, where it's not seen. Internal
bleeding of the joints (like the knees or hips) is common in kids with hemophilia.
Hemophilia is a genetic disorder, which means it's the result of a change in genes
that was either inherited (passed on from parent to child) or happened during development
in the womb. Hemophilia mostly affects boys — about 1 in every 5,000-10,000.
Girls who inherit the gene rarely get the condition, but as carriers of the gene they
can pass it to their children.
How Blood Clots
When most people get a cut, the body naturally protects itself. Sticky blood cells
called platelets go to where the bleeding is and plug up the hole.
This is the first step in the clotting process.
When the platelets plug the hole, they release chemicals that attract more sticky
platelets and also activate proteins in the blood known as clotting factors.
These proteins mix with the platelets to form fibers, which make the clot stronger
and stop the bleeding.
When Blood Doesn't Clot
In hemophilia, the body doesn't making enough of certain clotting factors.
Our bodies have 13 clotting factors that work together to clot blood. They're named
using Roman numerals from I through XIII, or 1 through 13. Having too little of factors
VIII (8) or IX (9) is what causes hemophilia.
There are two major kinds of hemophilia: hemophilia
A and hemophilia
B. About 80% of cases are hemophilia A, which is a factor VIII deficiency.
Hemophilia B is when there is too little factor IX.
Hemophilia can be mild, moderate, or severe, based on the amount of the clotting
factor in the blood:
Mild hemophilia: the body makes 6% to 50% of the affected clotting factor
Moderate hemophilia: the body makes 2% to 5% of the affected clotting factor
Severe hemophilia: the body makes less than 1% of the affected clotting factor
In general, a person with milder hemophilia may bleed too much only once in a while.
A person with severe hemophilia is at risk for bleeding problems much more often.
Signs and Symptoms
Symptoms of hemophilia vary, depending on the amount of clotting factor a person
has and the location of the bleeding.
External bleeding is easy to notice. A child may bleed more than
usual after scraping the knee, getting a paper cut, losing a tooth (or having one
removed), or biting down on the lips or tongue. Nosebleeds
may last a while.
Internal bleeding is harder to identify if you don't know the
signs. These include bruising (especially bruising with swelling), redness, or tenderness
in an area, especially a muscle or joint (like the knee). Kids with hemophilia usually
can tell when internal bleeding is happening. They often describe a "bubbly" feeling
in an area like a joint. The area also may feel achy, stiff, or warm to the touch.
Babies with hemophilia can't say how they feel, but they do give signs. Once they
begin crawling and cruising, parents may notice raised bruises on the stomach, chest,
buttocks, and back. A baby also may be fussy and not want to reach for a cup, walk,
Few babies are diagnosed with hemophilia in the first 6 months of life because
they're unlikely to have an injury that would lead to bleeding. And even when if do
— for example, during a circumcision — many do not bleed enough to signal
a problem at that time.
As kids get older and become more active, a doctor may suspect hemophilia if a
child bruises easily and bleeds too much when injured.
Hemophilia is a lifelong condition with no cure other than liver
transplantation, a procedure that can sometimes cause health problems more serious
than hemophilia itself.
But hemophilia can be successfully managed by knowing when and how to treat a bleeding
episode, and getting regular treatments that replace the missing clotting factor.
Factor Replacement Therapy
Factor replacement therapy helps blood to clot and prevents long-term
joint damage due to bleeding. It can be given while a bleeding episode is happening
to promote clotting, or in regularly scheduled treatments to keep the blood healthy.
The therapy is "infused" in the blood — given through an intravenous (IV)
line either at a clinic or at home by a visiting nurse or by parents (and patients
themselves) who have had special training. Once the clotting factor is in the blood,
it begins to work quickly.
About a quarter of children with severe hemophilia A develop inhibitors
(antibodies to the clotting factor). Their bodies view the new clotting factor as
an invader and develop antibodies that block its clotting action. This can make the
hemophilia difficult to treat.
One method for overcoming the inhibitors is by carefully infusing larger amounts
of the clotting factor over time. This way the body will start to recognize the clotting
factor without trying to attack it. Inhibitors to factor IX (hemophilia B) are less
common and harder to treat.
There is also a medicine called recombinant factor VII that can help prevent the
body from developing inhibitors. This medicine activates another part of the clotting
process directly, so that the missing factors are no longer needed to clot blood.
Treating an External Bleed
In most kids with hemophilia, everyday cuts
and scrapes can be treated with common first aid measures. The important thing is
to give treatment right away (which may include giving a treatment of clotting factor
therapy, if needed). Keep all necessary items handy (like a first
aid kit) at school, home, and in the car. Also, make sure that all caregivers
know what to do in an emergency.
For small (superficial) cuts
and scrapes, rinse the cut or wound with water and apply pressure with sterile gauze,
a bandage, or a clean cloth. If the bleeding does not stop, your child may need a
treatment of factor replacement therapy. If you cannot give it, take your child to
the doctor's office or hospital right away for treatment.
Severe cuts usually require a treatment of factor replacement therapy. If the cut
is severe and you can't get your child to a hospital right away or must wait for an
ambulance, do the following:
Rinse the cut or wound with water and apply pressure with sterile gauze, a bandage,
or a clean cloth.
If blood soaks through the bandage, place another bandage over the first and keep
Raise the injured body part to slow bleeding.
When bleeding stops, cover the wound with a new, clean bandage.
Your child may bleed more in some situations than in others, especially when
certain areas of the body are affected. Ask your doctor about these situations
so that you know what to expect and can be prepared.
Treating an Internal Bleed
Internal bleeding must be treated promptly with factor replacement therapy. Prolonged
bleeding can cause serious health problems. For example, a buildup of blood in the
joints can wear down the smooth surfaces that allow limbs to bend easily. As the surfaces
roughen, irritation and the number of bleeds can increase. This cycle can lead to
chronic joint damage that may require surgery to remove the damaged joint tissue.
Learn the signs of an internal bleed, and ask your doctor what to look for. An
older child should be encouraged to always tell you when he or she senses a bleed
— the sooner it is discovered, the quicker your child can get treatment.
If your child has an internal bleed, give factor replacement therapy treatment
if you've been instructed to do so by your doctor, or go to the hospital. Doctors
recommend splinting the affected area for a short period of time and then applying
ice to ease inflammation, promote clotting, and relieve pain.
Acetaminophen (such as Tylenol)
is the preferred pain reliever because many other over-the-counter pain medications
contain aspirin or NSAIDs (non-steroidal anti-inflammatory drugs, such as ibuprofen
or naproxen sodium), which can affect blood platelets and lead to increased bleeding.
Preventing Bleeding Problems
Parents can help kids with hemophilia prevent problems by encouraging healthy behaviors,
Regular exercise. Exercise can strengthen muscles and help decrease
bleeding from injuries. Swimming is a great sport for kids with hemophilia because
it exercises all the muscle groups without putting stress on the joints.
Keeping a healthy weight.
Extra weight can strain parts of the body and increase bleeding risks. If your child
is overweight, speak to your doctor for advice on weight management.
Caring for the teeth.
Make sure that your child is brushing his or her teeth twice a day, flossing regularly,
and drinking fluoridated water to keep the teeth as healthy as possible. This will
make it less likely for the gums to bleed or for your child to need dental surgery. Routine
cleanings can sometimes cause bleeding. Find a dentist who has experience
with patients who have hemophilia and who knows how to handle bleeding if it happens.
To help prevent bleeding problems, doctors use caution when treating children with
hemophilia. For example, when giving immunization shots that are normally given in
the muscle, doctors instead inject the shots into a deep area under the skin called
the subcutaneous tissue. It's important to remember that kids with hemophilia need
all recommended vaccines.
Many patients with severe hemophilia prevent "bleeds" with regular clotting factor infusions
(usually two or three times per week). Some young children get a central venous catheter
(a hollow, soft tube) inserted surgically into a vein, which lets them get clotting
factors without pain.
Caring for Kids, Age by Age
Babies and Toddlers
If your baby is diagnosed with hemophilia, put bumper pads in the crib,
cushion furniture with sharp edges, and put gates across stairs to prevent falls.
Bumper pads are not recommended for children in general, but an exception can be made
for infants with hemophilia.
As your baby begins to crawl and walk, special knee and elbow pads can offer protection
against joint bleeds. Some parents sew a pocket in the seat of their child's pants
and pad it with a piece of diaper. If your house has ceramic tile or hardwood floors,
consider installing carpet or buying rugs to soften the floor surface. And tape down
the edges of carpets so your child doesn't trip on them.
Depending on how energetic and adventurous your toddler is, you might want to have
him or her wear a helmet to protect against head
The preschool years — when children are becoming more independent —
can be one of the most challenging times for kids with hemophilia and their parents.
For example, a preschooler may not tell mom and dad about an injury that resulted
from doing something that's not allowed (riding a bike without a helmet, jumping on
the furniture, running in the house, etc.). Most kids, though, will discover that
prompt treatment is better than waiting until pain and swelling become severe.
Big Kids and Teens
As children get older, it's helpful to involve them as much as possible in their
own care. This can include teaching them how to give their own factor injections and
having them track their treatments.
Kids with hemophilia can still participate in activities, though they might have
to take on a different role. For example, hemophilia might prevent kids from participating
in contact sports, but they can still be a part of the team as the scorekeeper or
assistant manager. Swimming, hiking, golf, and other low-impact sports are good options
for kids with hemophilia.
Another option is to send them to a summer camp where they can meet other kids
with hemophilia and work toward being able to give themselves clotting factor replacement
therapy for a sense of control over the condition. Ask your doctor about finding a
camp near you.
Ask your family members, caregivers, and your
child's teachers if they would like to learn more about hemophilia by meeting
with your doctor or other members of your child's care team.
When to Call the Doctor
Certain bleeds need medical attention. If your child develops a swollen joint,
this could be a sign of bleeding in the joint, so call the doctor right away. Also,
if your child gets hurt or you suspect your child has bleeding or bruising anywhere
on the body, call the doctor.
If your child has a central venous line and develops a fever, call the doctor right
away. This could be a sign of a central line infection.
Go to the emergency room if your child has:
an injury to the head, neck, belly, or back
bleeding that is not stopping
severe belly pain or difficulty moving
red or tea-colored urine
bloody or black poop
If the bleed requires going to the emergency room, make sure your child is treated
at a hospital that has experience treating hemophilia.
Looking to the Future
Tremendous advances have been made in the treatment of hemophilia, and most patients
can now lead full, healthy lives with careful management of their condition.
The development of clotting factors made in the laboratory has virtually eliminated
the danger of infusion-related infection with HIV
or hepatitis viruses from clotting factor replacement therapy. And regular home-based
infusions have helped reduce chronic joint problems.
In the future, people with hemophilia may have access to continuous infusion of
clotting factors under the skin or in pill form. Some doctors are also encouraged
by research involving gene therapy.
Thanks to advances like these, kids with hemophilia can participate in more activities
and have the freedom to lead more active lives.