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Lauren Bird
Spurlock
Biology
27 January 2012
Hemophilia:
The Rare Blood Disease
Hemophilia is a rare bleeding disorder that causes the blood to clot irregularly or slows
the blood clotting process down and may be life threatening. People with this condition
experience longer bleeding after injuries than someone without hemophilia would. Also, these
people will experience major bleeding after a minor accident or trauma. Serious complications
can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of
hemophilia do not involve spontaneous bleeding, and the condition may not become apparent
until abnormal bleeding occurs following surgery or a serious injury.
In the year of 1803 a physician from Philadelphia named John Conrad Otto discovered
hemophilia. At the time, there was no name for this bleeding disorder or any ways to treat it. In
the year of 1828, the name hemophilia was used for the first time at the University of Zurich in
Switzerland. Hemophilia is most common in boys. About 1 in every 5,000-10,000 is born it. It is
very rare for a female to have hemophilia. Although a male can’t pass this disorder to his son, he
can pass it to his daughter who can be a carrier of hemophilia. Each male of a female carrier has
a 50% chance of having hemophilia. In the US, there are about 18,000 people with hemophilia.
Hemophilia A is the most common type of the condition; 1 in 4,000-5,000 males
worldwide are born with this disorder. Approximately 1 in 20,000 males worldwide are born with
hemophilia B. Changes in the F8 gene are responsible for hemophilia A, while mutations in the
F9 gene cause hemophilia B. Some of the symptoms of hemophilia include: lengthy bleeding
after circumcision, excessive bruising, swollen and/or painful joints, swollen and/or tender
muscles, severe bleeding from the gums, tongue or mouth following injury, etc. Diagnosing a
patient for hemophilia usually includes a family’s background check or history, a blood test, and
physical examinations. Blood tests are used to determine how long it takes blood to clot, whether
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the patient's blood has low levels of any of the clotting factors, and whether one of the factors is
completely missing from the person's blood. When diagnosed with this disorder, the doctor will
classify your case as mild, moderate, or severe based on how much clotting factor is in the blood.
Determining which case of hemophilia the patient has (A or B) is very important. Children with
severe cases are usually diagnosed their first year of life. People with milder forms aren’t usually
diagnosed until their adulthood.
There are three main complications that may develop in people with hemophilia: joint
destruction, blood-borne infection, and development of inhibitor antibodies. How well you do
depends on the type of hemophilia and its severity. Around the 1950s, about 60% of males with
severe cases of hemophilia A didn’t live to adulthood. But today, thanks to the development of
clotting factor products, most people with hemophilia can have a near-normal life span.
Hemophilia treatment varies depending on the severity of the patient’s condition. With mild
hemophilia A, treatment may include an injection of the hormone decompression (DDAVP) into a
vein to stop bleeding. Occasionally, decompression is given as a nasal medication. Moderate to
severe hemophilia A or hemophilia B, bleeding may stop only after a strain of clotting factor
acquired from donated human blood or from genetically engineered products called recombinant
clotting factors. Repeated infusions may be needed if the patients internal bleeding is serious.
Hemophilia cannot yet be cured, although patients who start prophylaxis (prevention of disease)
at an early stage have a better outcome and fewer joints bleed, aches, etc. Hemophilia is a
lifelong disease. Treatments and prevention are improving. Many children with hemophilia can
live a relatively healthy life. Children with hemophilia lack the ability to stop bleeding because of
low levels or complete absence of specific proteins necessary for clotting.
If you or anyone you know has the previous mentioned symptoms of this condition, notify
your doctor. Almost all of the information above is necessary to know if you or someone you know
has hemophilia.
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"Hemophilia - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding
Genetic Conditions. U.S. National Library of Medicine, 23 Jan. 2012. Web. 25 Jan. 2012.
<http://ghr.nlm.nih.gov/condition/hemophilia>.
"Hemophilia - What Is It?" Free Diet Plans at SparkPeople. Spark People, 26 Aug. 2009. Web. 25 Jan. 2012.
<http://sparkpeople.com/resource/health_a-z_detail.asp?AZ=227>.
Schoenstadt, MD, Arthur. "Diagnosing Hemophilia." Blood Home Page. Health Savvy, 28 Nov. 2006. Web.
25 Jan. 2012. <http://blood.emedtv.com/hemophilia/diagnosing-hemophilia.html>.