Hemophilia Essay

This essay has a total of 2042 words and 9 pages.


Hemophilia is a genetic bleeding disorder. People who have hemophilia have a deficiency or
an absence of a coagulation protein. A blood clotting factor is deficient or absent.
Bleeding is most often into joints, such as the knee, elbow, or ankle, but bleeding can
occur anywhere in the body. People with hemophilia bleed longer, not faster. The severity
of hemophilia varies greatly. Hemophilia A and Hemophilia B are the most common genetic
bleeding disorders. Hemophilia A is observed in 80 percent of hemophiliacs and is a
deficiency or absence of Factor VIII. It can also be referred to as "classic"
hemophilia. In the second most common, hemophilia B, factor IX is missing. This is also
known as the "Christmas Disease" because of the surname of the first patient studied.

Hemophilia was identified as early as biblical times. Doctors in medieval times were
familiar with it as well. In 1803, a Philadelphia doctor published the first description
of hemophilia in the United States. But it was not until 30 years later that hemophilia
became widely recognized. Hemophilia later developed a reputation as the "royal disease"
because it passed from Queen Victoria of England to her descendants throughout the royal
houses of Europe.

About eighty percent of all cases of hemophilia have an identifiable family history of the
disease; in other instances, it may be attributable to a spontaneous mutation.
Researchers recently discovered that the spontaneous mutation of the factor VIII gene in
two children was due to the attachment of a foreign "jumping gene" that disrupted the
blood-clotting ability of the factor VIII gene. Inheritance is controlled by a recessive
sex-linked factor carried by the mother on the X chromosome. A probability of one in two
exists that each boy born to a normal male and a carrier female will be hemophiliac and
the same chance that each girl of this union will be a carrier.

Of the children of a hemophiliac male and a normal female, all the girls will be carriers
and all the boys will be normal. Males cannot transmit the disability, and female carriers
are free of the disease. Conventional wisdom suggests that 1 in 10,000 males in the
United States have hemophilia. However, increased research and focus, on bleeding
disorders in general and on bleeding disorders in women specifically, suggest a shift in
what is known about who has a bleeding disorder.

Clotting factor is one of 12 or more proteins found in blood that work together to make
blood clot. They are designated by Roman numerals I through XIII. When the body detects
bleeding, clotting factors are switched on in a specific order, each sending an activating
message to the next. Factor VIII is one of the clotting factor proteins that helps produce
the fibrin clot.

Sufficient quantities of fibrin must be made by the body in order for fibrin to act like a
net that holds the platelets together to make a firm blood clot. In persons with
hemophilia A, fibrin is not made properly, so firm blood clots do not form in the wound,
and bleeding continues.

There are two major processes involved in blood clotting. The first part has to do with
platelets. They are like little shingles which go to where a blood vessel has ruptured,
and they stick over the hole and make a plug. This is the first step of making a clot.
The plug is only temporary, and the platelets can easily fall off. The platelets soon
rupture and release chemicals that attract more platelets and make them "sticky", too. The
chemicals released by the rupturing platelets also activate various clotting factors which
are proteins in the blood.

The next step is that fibers form from the activated proteins and mix with the platelets.
The fibers are like a net, or a weave of yarn, and they make the clot stronger. The
substance that makes the fibers is called fibrinogen. There are twelve factors which work
together to make the fibrinogen. People with hemophilia have a problem with one or more of
those factors. The most common of the twelve factors to have a problem is factor VIII,
which causes hemophilia A. The second most common to have a problem is factor IX, and this
causes hemophilia B.

Babies with hemophilia usually have no difficulty during the birth process, however
circumcision may produce prolonged bleeding. During the first few months of life, a baby
with hemophilia has few problems because ones ability to move around is limited. As the
baby learns to walk one will fall and sustain many small, superficial bumps and bruises.
Bleeding into soft tissue area of the arms and legs is frequent and usually not serious.
Superficial bruises are seen easily and are often raised, but usually do not require

As a child with hemophilia matures, one is more active and will have more bleeding
episodes. The first sign of bleeding deep in a muscle may be a reluctance to use the limb.
The child may become irritable as bleeding continues. When the symptoms are present,
examination of the limb should be done carefully but do not in a manner where the limb
should be moved forcibly is one resists. After an examination the opposite limb at the
same time has been completed, one can detect possible differences in swelling and/or skin

It is crucial to also beware of a complaint from an older child of a “pulled muscle".
Those are often confused with deep muscle bleeding. A pulled muscle complaint is always to
be considered a deep muscle bleeding unless proven otherwise.

A bleeding episode in a muscle can spread through the muscle length, often without one
noticing it. When muscle bleeding occurs in the forearm, calf or groin, swelling can
create pressure on the nerves which can result in numbness, and subsequent pain and
inability to move the limb. Deep muscle bleeding often requires follow-up treatment and
observation by the center staff. Sling, splints or crutches may be necessary for support
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