WHAT IS HEMOPHILIA?
Hemophilia is a
disorder caused by an error in a persons genetic code.
This special genetic code, passed to an
unborn child, is supposed to signal a series of steps that help control bleeding by
clotting. The steps needed to form a clot depend upon a series of proteins called factors.
This error in genetic code means that some of the factors are missing or that they are not
working correctly in a person with hemophilia. This causes people with hemophilia to bleed
longer but not faster. Surface bleeds, on the outside of the body, are fairly easy to
stop, even for people with hemophilia. Internal bleeding, such as bleeding into joints or
muscles, can mean that it is only possible for a clot to form after the
person has taken medication called clotting factor.
More than 15,000 people have hemophilia A
or hemophilia B in the United States. There are other bleeding disorders where one or
more of the clotting factors is missing. People with hemophilia A are missing factor VIII
and those with hemophilia B are missing factor IX, others may be missing factors I, II,
There are also other bleeding disorders. The most common
of which is von Willebrand disease, and many more people have von
Willebrand disease than have hemophilia. Individuals with bleeding disorders can be
missing a little, a lot, or almost all of that particular factor needed to form clots and
stop bleeding. These are called mild, moderate, and severe levels of disorder. The
level of severity will predict how often a person will develop a bleed, how difficult it
will be for them to form a clot, and how much clotting medication they
will need in order to form a clot.
The gene, or genetic error, for
hemophilia is carried by females to both boy and girl children. As a carrier of
hemophilia, a woman may have symptoms of hemophilia herself. She may need factor
replacement therapy at times during her lifetime. She may suffer excessive menstrual bleeding,
frequent nosebleeds, easy bruising, bleeding during surgery, dental work, and childbirth.
It is wise for a woman who is a carrier, to ask her doctor for a diagnostic test to
determine her level of severity and when she may need for treatment to remain well.
As a carrier of hemophilia, a woman is at
risk of having children who have hemophilia or who are carriers. Each child that is born
to a woman who is a carrier, can inherit one of four possible genetic codes
that relate to hemophilia. Most commonly, a girl born to a woman who is a carrier is at risk of
being a carrier. A boy born to a woman who is a carrier is at risk of having
hemophilia. So, lets see how this works.
First we need to understand that the
father's sperm determines the gender (male or female) of the unborn baby. With each
pregnancy a woman, who is a carrier, has an equal chance of creating a baby boy or girl, as
determined by the gender selection of the sperm. If a boy is conceived, he has a 50%
chance of being born with hemophilia. If a girl is conceived, she has a 50% of being a
carrier of hemophilia. That means that each pregnancy presents 50% risk of that child being born with hemophilia or with a carrier. On rare occasions a woman carrier may pass hemophilia to a daughter.
Men with hemophilia, however, will pass the genetic coding error to all of their
daughters, 100% of whom will be carriers.
Hemophilia is a life-long disorder. Those
with mild or moderate hemophilia may need factor replacement treatment very rarely. Those
with severe factor VIII or IX deficiency, may need treatments more than once per week, for
their entire lives, to stop bleeds. Without treatment or with delays in treatment, people
with hemophilia will suffer tremendous pain, swelling, joint damage, and possible joint
destruction from bleeds. Clotting factor needs to be accessible immediately and in
sufficient quantities to ensure that bleeds are stopped quickly and completely.
The medications used to stop bleeding are
called clotting factor replacements. These medications are injected or infused into the
persons body through a needle. These medications put back the missing
that the person can form a normal clot. Often these medications are used to prevent
bleeding from occurring in the first place. This preventive treatment is called
prophylaxis. A person on prophylaxis will infuse medications on a regular schedule, often
two to three times per week, helping the body clot and deal with trauma just like a person
without hemophilia or von Willebrand. To remain healthy, people with hemophilia, von
Willebrand, and other bleeding disorders must have their medications available when and
where they need them.
Many families use health centers, called
hemophilia treatment centers (HTC), to get care for their bleeding disorder. These centers
have developed the expertise needed to understand bleeding disorders. The medical staff of
an HTC includes doctors and nurses with special training in hemophilia-related conditions.
Often the HTC team includes an hematologist, orthopedist, nurse, geneticist, physical
therapist, social worker, health educator, with referrals to dentists, OBGYNs, and other
specialists that are routinely needed by clients with bleeding disorders.
In addition to receiving healthcare
services at an HTC, clients often go to the HTC or local emergency room to get their
medications and have those medications injected intravenously. There are also many
families who have learned to infuse these medications themselves. Similar to people with
diabetes, many children and adults with bleeding disorders have become more self-reliant
by learning how to inject themselves with their medications in their own homes. Home
treatment has helped people treat bleeds immediately without waiting. Individuals and
families have become more independent, have been less burdened with travel to the hospital
and waiting at ERs, and have decreased their medical care costs. A home infusion or home
treatment program, can be chosen by a family with hemophilia, in concert with their
hemophilia doctor. This is where AHF comes in.
The quality of life for families living
with bleeding disorders has improved so much in the past thirty years. Medications are
available and purification has made these medications safer and safer. Recombinant
medications, made from non-human sources, are in good supply and need to be among the
choices given to every family. Prophylactic treatment has helped prevent bleeding and made
a nearly normal life possible for all. The children born today with hemophilia and related
bleeding disorders may be able to live without the surgeries and wheelchairs used by their
grandfathers. We at AHF are happy to be part of this optimistic new world.
However, there remain many complications.
Medications are still being made from human plasma and still carry a risk of transmitting
other diseases, like hepatitis. People with bleeding disorders still suffer from joint
damage and joint disease. Some people with hemophilia suffer from liver diseases or
HIV disease. All people with bleeding disorders are completely dependent upon daily,
weekly, or at least regular treatment with very expensive medications that must be
For this reason AHF is a generous
supporter of research to find a cure for hemophilia and related bleeding disorders. We join thousands
across the country in support of the work of the national organization involved in that effort, the
National Hemophilia Foundation (NHF).
Our support efforts include Bear With Us...please
be a part of finding a cure for bleeding disorders.
The above information on
hemophilia and related inherited bleeding disorders is based upon a pamphlet from NHF
entitled "What You Should Know About Bleeding Disorders."
the Standard of Homecare for the Bleeding Disorders Community