TRAINING and EDUCATION
Patient Education
UNDERSTANDING
HEMOPHILIA
A bleeding disorder is a condition in which a person tends to bleed longer (not faster)
before a blood clot forms to stop the bleeding. Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. Currently, an estimated 20,000 people in
the United States have hemophilia. Read below for more information about the cause,
diagnosis, and treatment of hemophilia.
This “Patient Education” tear sheet was produced in collaboration with the National Hemophilia Foundation (www.hemophilia.org).
What Is Hemophilia?
Hemophilia is a bleeding disorder in which one of
the proteins that cause the blood to clot (called clotting factors) is missing or there isn’t enough of it to work
properly. The lower the factor level, the more serious the
hemophilia.
There are different types of hemophilia:
• hemophilia A (sometimes called classic hemophilia),
which is caused by a lack or deficiency of clotting
factor VIII
• hemophilia B (sometimes called Christmas disease),
which is caused by a lack or deficiency of clotting
factor IX
Hemophilia A and B are the most common types of hemophilia, with hemophilia A being four times as common
as hemophilia B. Also, more than half of patients with
hemophilia A have the severe form of hemophilia.
What Happens When a Person Has
Hemophilia?
People with hemophilia often bleed longer than other
people. Bleeds can occur internally, into joints and
muscles, or externally, from minor cuts, dental procedures, or trauma. Internal bleeding into the joints can
cause pain and swelling, If left untreated, it can lead to
permanent damage.
People with hemophilia can’t make a firm fibrin clot.
The first two steps to stop bleeding usually work normally in a person with hemophilia: the blood vessel
narrows and the platelets make a plug. A person with
hemophilia has a problem when a fibrin clot is needed
to stop the bleeding. He or she does not have enough
of certain clotting factors to do the job. Because of
this, the fibrin clot is not made or is so thin that it’s not
strong enough to stop the bleeding.
Symptoms of hemophilia include:
Cut out and give to a patient
• Bleeding into joints, muscles and soft tissues
• Excessive bruising
• Prolonged, heavy menstrual periods (menorrhagia)
• Unexplained nosebleeds
• Extended bleeding after minor cuts, blood
draws, vaccinations, surgery, or dental procedures
How is Hemophilia Diagnosed?
Hemophilia is an inherited blood disorder, meaning it is
passed from the parent to the child through mutations
(alterations in the DNA sequences) in genes. The gene
that causes hemophilia is carried by women. However, in
about one-third of cases, there is no known family his-
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tory of hemophilia; instead, the disorder results when a
spontaneous mutation occurs.
A medical health history is important to help determine if other relatives have been diagnosed with a bleeding disorder or have experienced symptoms. Tests that
evaluate clotting time and a patient’s ability to form a clot
may be ordered. A clotting factor test, called an assay,
will determine the type of hemophilia and its severity.
The frequency and severity of a person’s bleeds
depends on the amount of clotting factor in the plasma.
The TABLE below outlines this relationship.
Severity
Level of Factor VIII
or IX in the blood
Normal (person who does not
have hemophilia)
Mild hemophilia
Moderate hemophilia
Severe hemophilia
50%-100%
6%-30%
1%-5%
Less than 1%
How is Hemophilia Treated?
The goal of hemophilia treatment is to prevent bleeds
and the damage associated with it.
Because many bleeding disorders are due to a lack of
blood clotting factors, the mainstay of treatment is replacement of the deficient clotting factor. This is done by
injecting commercially prepared clotting factor concentrates into a person’s vein. The two main types of clotting
factor concentrates available are:
• plasma-derived factor concentrates
• recombinant factor concentrates
Unlike human plasma-derived factor products, recombinant factor products are developed in a lab through the
use of DNA technology.
Other agents given to individuals with hemophilia
include desmopressin acetate (DDAVP; a synthetic form
of arginine vasopressin, the naturally occurring hormone
that helps to release FVIII from where it is stored in the
body’s tissues) and aminocaproic acid and tranexamic
acid (chemicals that prevent clots from breaking down,
resulting in a firmer blood clot). Usually these treatments
are given orally or by a nasal spray. Some of them are
available in injectable forms.
Often the best place for patients with hemophilia to
be diagnosed and treated is at one of the 130 or so federally funded hemophilia treatment centers (HTCs) that
are spread throughout the country. HTCs provide comprehensive care from skilled hematologists and other
professional staff, including nurses, physical therapists
and social workers, and sometimes dentists, dieticians,
and other health-care providers. ●
NHF Resources
The National Hemophilia
Foundation (NHF) is dedicated
to finding better treatments and
cures for inheritable bleeding
disorders and to preventing the
complications of these disorders
through education, advocacy,
and research.
• Visit the NHF website (www.
hemophilia.org) or their
Steps for Living website
(stepsforliving.hemophilia.
org) for more information
on living with a bleeding
disorder.
• Patients or caregivers can
also contact HANDI, NHF’s
information resource center
on hemophilia and other
bleeding disorders, by
emailing handi@hemophilia.
org or calling 1.800.42.
HANDI.
• You can also find articles on
hemophilia in HemAware,
the NHF’s award-winning
magazine, available at www.
hemaware.org.
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