Hemophilia Essay Research Paper Hemophilia Hemophilia is

Hemophilia Essay, Research Paper

Hemophilia Hemophilia is a genetically inherited bleeding disorder which is caused when one of the plasma proteins (needed to clot) is missing or abnormally formed in the blood. The word Hemophilia comes from the Latin word hemo, meaning blood and the word philia, meaning: having a tendency towards. Knowledge of hemophilia has been around since biblical times (due to the age of hemophilia it is uncertain who the exact founder of the disease is) but it wasn’t until the 1960’s that scientists began to make new advances towards figuring out what hemophilia was. There are two types of hemophilia: hemophilia A or factor VIII deficiency, and hemophilia B or factor IX deficiency. Hemophilia A is more common than hemophilia B with 85% of those affected by hemophilia having it. A person with hemophilia does not bleed harder or faster than a normal person would when injured, but they bleed longer because their blood is unable to form a firm clot. Small cuts are normally not a problem, but sometimes bleeding in the joints occurs due to a person’s body growth. This results in swelling of the affected joint and extreme pain when the joint or muscle is moved. It is reported that one in ten thousand males get hemophilia A. It has been calculated that worldwide there are approximately 350,000 people with severe or moderate hemophilia, although hemophilia B is 5 times less common that hemophilia A. All races, religions, and economic groups are affected by hemophilia. Hemophilia is a bleeding disorder which is inherited genetically. Due to the pattern of inheritance, the disorder generally affects males only. About one third of hemophilia cases come with a previous family history. Women with a hemophilic gene are called carriers while men are either hemophiliacs or normal. A daughter of a mother who is a carrier and a father who is normal has a 50% chance of being a carrier herself. A son of the same mother and father has a 50% chance of having hemophilia. Most of the time carriers are not affected by the disease, but sometimes there are minimal symptoms. Many times hemophilia is hidden for many generations if no affected males are born. Therefor the hemophilic gene is carried through many generations of females who, because they have

one X chromosome that is normal, do not suffer from the disease themselves. Other cases may have no family history, which would mean that the change in the X chromosome is a new one. This is called a mutation of the gene. Hemophilia has played an important role in Europe’s history, for it suddenly cropped up in the children of Great Britain’s Queen Victoria. It became known as the “Royal disease” because it spread to the royal families of Europe through Victoria’s descendants. Hemophilia first appeared in Victoria’s family in her eighth child, Prince Leopold, Duke of Albany. Throughout his short life, Leopold had suffered severe hemorrhages, and always was described as “very delicate.” Leading the life of a normal youngster was impossible for Leopold because any cut or bump could lead to death and it had been necessary to keep him always under strict surveillance. However, in spite of all protection, Prince Leopold died at the age of thirty-one, as a result of a minor fall. The disease then took off from there in the royal family. It was either given to a male descendant (causing him to be a hemophiliac) or a female descendant (causing her to be a carrier). The present-day royal family is unaffected by the disease. The treatment of hemophilia involves the simple injection of the deficient factor (usually found in blood derivatives or factor concentrates) directly into the individual’s vein. This will either prevent bleeding, or minimize the effects so that the patient remains free of disability and problems. If treatment is delayed the bleeding continues, causing more tissue damage, and eventually a permanent disability. If a hemophiliac has severe bleeding or surgery, a continuous blood replacement therapy is applied to maintain healthy levels of the clotting factor. Untreated, hemophilia is a lethal disease. At the beginning of this century the life expectancy of someone with hemophilia was less than fifteen years. Today, with good treatment, and a fair amount of knowledge, a male’s life expectancy with hemophilia is only ten years less than a normal male’s life. This is only the beginning of treating hemophilia. With the recent genetic technological advances taking place, there is no telling what treatment or prevention methods scientists will think of next.