Hemophilia Essay, Research Paper
Hemophilia is the best known of hemorrhagic disorders. When a person has hemophilia,
the blood does not clot properly and bleeding persists. The people who have hemophilia
are called hemophiliacs or bleeders. Bleeding disorders, such as hemophilia, result from a
disruption of the body’s process of how blood clots are formed. The coagulation process
involve platelets as well as plasma proteins called clotting factors. Clotting begins when
platelets stick to the site of an injury to a blood vessel. The proteins in the plasma that
cause blood to clot is absent.
Hemophilia is named from a Greek word meaning ” fond of blood”. There are two
types of hemophilia. Hemophilia A, which is the most common and is also called classic
hemophilia. Hemophilia B or Christmas disease, named after the first patient diagnosed
and treated with hemophilia B. Hemophilia B lacks AHF (antihemophilic factor). About
85% of hemophiliacs have classic or hemophilia A. Hemophilia A’s blood lacks the
clotting factor eight. The rest of the 85% have Christmas, which lacks clotting factor
nine. An extremely small number of hemophiliacs lack yet another kind of clotting factor.
Both A and B forms have also been called the royal disease. Hemophilia was
inherited by decedents of England’s Queen Victoria and introduced into the royal houses
of Spain, Germany, and Russia.
Hemophilia A and B are caused by genes that are sex linked and recessive. A
defective gene on the X chromosome, one of the two chromosomes, that determine a
person’s sex. The Y chromosomes which has no genes for clotting is the other
chromosome. Males have one X chromosome and one Y chromosome. Girls have two X
chromosomes. A boy who inherits the hemophilia defect on his X chromosome will most
defiantly will be a hemophiliac. A girl who inherits the defective gene on her X
chromosome will be a carrier instead of hemophiliac, because the normal gene on her X
chromosome provides enough for the most needed clotting factor. She might transmit the
defective gene to her children. It is
very rare for a girl to have hemophilia. Most often hemophilia occurs in
families who have a history of diseases which pass from grandfather to grandson through
the mother who is a carry. It does pop up in families which the disease hasn’t been
previous. This is not yet determine why.
The major problem for hemophiliac’s isn’t external cuts which can be treated with
pressure and bandages, but it is uncontrolled internal bleeding. The amount of bleeding
various from person to person. The more severe forms of hemophilia become visible early
in life. Newborns often show no signs of hemophilia unless the are circumcised. This
causes extensive bleeding. If the infant is not circumcised, signs of hemophilia don’t show
until a child starts crawling or walking in which bruised markings appear were they have
fallen or hit something. Hemophilia, in mild forms, may not show up later in life, until
extensive bleeding occurs only after surgery, tooth extraction, or major injury to any body
parts.
A physician can diagnose hemophilia by using specialized laboratory tests to
measure the clotting activity of factors eight and nine, or other factors for that matter.
Further investigating can occasionally turn up the condition in other members of the
family. The way current medical treatment is advancing, people with hemophilia can have
a close to average life expectancy. Although the disease is life long, it can be controlled
with medication or the administration of clotting factors. This allows a relatively normal
life. Depending on how severe the hemophilia is in a patient, it may be necessary to take
extra care to decrease bleeding as a result of physical activity. If hemophilia is in
advanced stages, it may lead to anemia as a result of excessive and continuous blood loss.
Bleeding in the joints can occur in this stage. It can cause very painful swelling which
over a long period of time can lead to permanent deformity and hemophilic arthritis.
Sometimes the disorder becomes more difficult to control because antibodies develop to
the clotting factor that has been used in treatment. Treating bleeding outbreaks may
involve the administration of AHF alone to speed up clotting. Without treatment,
reoccurring bleeding into the joints
can happen. This causes chronic pain and weakness and can destroy joints all together.
Blood has also been known to gather around the neck, head, or in the digestive system.
This condition is extremely dangerous and extremely serious. In order to prevent joint
destruction all bleeding episodes of a hemophilic should be treated right away by infusion
of a clotting factor replacement, a medicine called desmopressin. If you have hemophilia
or think you may carry the trait, prenatal testing and genetic counseling can help you
wether or not your child could inherit hemophilia.
There is special treatment for hemophiliacs. Already the drug desmopressin was
brought to your attention. This drug helps stop bleeding by stimulating the release factor
eight and making blood contract. If you have hemophilia B or a more severe case of
hemophilia A, bleeding episodes may stop only after the missing clotting factors are
replaced by infusion. These clotting factors are derived from donated human blood and
are supplied as purification concentrates ( a clotting factor concentrate derived from
donated blood). During the 1980’s, hundreds of hemophiliacs became infected with the
AIDS virus (Acquired Immune Deficiency Syndrome) after receiving treatments of
clotting factor contaminated with the virus. More than half of those infected have died of
AIDS. Since 1985, the clotting factor concentrates were treated to prevent the
transmission of AIDS and this is greatly increased the safety of treatments with clotting
factor. With special training through a physician or regional hemophilia center, a
hemophiliac can learn to infuse desmopressin, DDAVP, or some of these blood products
by himself as soon as he shows some signs of bleeding. Don’t use medications that might
worsen bleeding, such as aspirin. Thanks to modern blood bank techniques, quantities of
whole blood can be made readily available. Bed rest and hospitalization may also be
recommended by a doctor.
Proper hygiene is very important in a hemophiliac. Hemophiliacs should put every
effort into not letting tooth decay happen. Parents of children who have hemophilia
should inform a dentist so that every precaution is taken to not make the child bleed.
Even the most common
procedure such as a tooth extraction can be a major health hazard. Only absolute
necessary surgery should be performed on hemophiliacs. If recurrent internal bleeding has
destroyed any of your joints, a hemophiliac may choose to have the joint replaced
surgically with an artificial joint. Physical therapy can also help damaged joints to function
better. Swimming, walking, and biking can help to build up a hemophiliacs muscles, and
this also helps to protect your joints. Do not under any circumstances engage in any
contact sports.