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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 bodys 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 (anti hemophilic factor). About 85 % of hemophiliacs have classic or hemophilia A. Hemophilia As 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 persons 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 hasnt been previous.
This is not yet determine why. The major problem for hemophiliacs isnt 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 dont 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. Dont 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.
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