Hemophilia Essay

796 words - 3 pages

Hemophilia is a sex-linked hereditary bleeding disorder in which it takes a long time for the blood to clot and abnormal bleeding occurs. It is a hereditary blood coagulation disorder caused by a deficient activity of plasma protein factor thirteen and nine, which affects the clotting property of blood. A coagulation disorder is a disorder associated with platelets- blood cells essential for blood clotting. The platelets don't function properly in the body of hemophiliacs. There are two types of hemophilia: hemophilia A and hemophilia B. This disease affects mostly males.
     Hemophilia A is the most common. Other names for it are classical hemophilia, and factor thirteen deficiency hemophilia. The bleeding disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. The X chromosome refers to sex-linked. The recessive inheritance refers to the fact that the trait, hemophilia, is expressed only when the defective form of the gene alone is present. Females have two X chromosomes for their sex chromosomes. They must carry the defective gene on both to have hemophilia. They must have it on one to carry it, and are then able to pass it on to their offspring. Males have X and Y chromosomes for their sex chromosomes. They only have one X chromosome, therefore only require a single dose of the defective gene to express the deficiency. Fifty percent of the male offspring of female carriers have the disease, and fifty percent of their female offspring are carriers. This is why this disease mostly affects men.
     Severity of symptoms can vary with the disease, but bleeding is the central symptom. This includes internal bleeding, and bleeding into joints. The coagulation disorder is noticed when an infant is circumcised at birth. Additional bleeding may occur when the baby becomes mobile. Some mild cases of hemophilia may go unnoticed in life.
     The risk factors of hemophilia are having a family history of bleeding, and being male. Hemophilia A occurs in one out of every ten thousand men. Prevention is somewhat limited. Genetic counseling is available. Having a prenatal intrauterine diagnosis (test of the baby's blood while inside the uterus of its mother) with termination of pregnancy as an option.
     Symptoms of hemophilia are bruising, spontaneous bleeding, nose bleeds, and bleeding into joints. This is associated with pain and swelling. Other symptoms are gastrointestinal tract and urinary tract hemorrhages, and blood in urine and stool. The main...

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