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.