Topic > Hemophilia as a Genetic Disease

Hemophilia is a bleeding disorder in which blood does not clot properly because "a person lacks or has low levels of certain proteins called clotting factors." (Kahn, April 1.) It is a rare disease and has “fewer than 200,000 cases per year in the United States.” It is usually inherited from a family member and can last for years or be a lifelong disease. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay There is no known cure for hemophilia, but treatment is said to help. The typical sex affected by this disorder is male, but females can also be affected. The usual age at which hemophilia is diagnosed is from birth to age 40 and, less commonly, from age 41 to over age 60. There are a few causes of this disorder. It can be caused by low levels of factors, a lack of sufficient clotting factors, it can be hereditary or “caused by a genetic change (spontaneous mutation)”. (Mayo Clinic Staff 2.) The inheritance patterns of hemophilia are: If the mother is a carrier there is a 50% chance that each of her sons will have hemophilia and a 50% chance that each of her daughters will is a carrier of haemophilia. . If the father has the hemophilia gene, all his daughters will be carriers and none of his sons will have the gene. But if the father has haemophilia and the mother is a carrier then there is a 50% chance that each of her sons and daughters will have haemophilia or a 50% chance that the daughters will be carriers of the gene. If it is caused by a genetic change, “the mother is not a carrier of haemophilia and the affected child is the first in the family to have haemophilia and carry the defective factor gene”. (Hemophilia Federation of America 3.) Life expectancy for hemophilia may depend on whether the person is receiving the proper treatment to cure the disease or whether he or she is receiving any treatment at all. It also depends on the level of severity of the disease. “Many patients die even before adulthood due to inadequate care. With proper treatment, life expectancy is only about 10 years shorter than that of healthy men. Overall, the mortality rate for people with hemophilia is about double that of healthy men. For severe hemophilia, the rate is four to six times higher. In most cases, the death rate from hemophilia depends on whether a person has other diseases.” (Naqvi, Erum 4) The symptoms of hemophilia are: excessive bleeding, easy bruising, continuous bleeding for a long period of time (before an actual clot forms, and the amount of bleeding depends on the severity of the gene), uncontrollable bleeding from a small wound or cut, nosebleed, blood in the urine or stool. Symptoms of brain hemorrhage include: severe headache, neck pain and stiffness, behavioral changes, vision problems, convulsions or seizures, fatigue, weakness in the arms and legs, and repeated vomiting. Please note: this is just an example. Get a custom paper now from our expert writers. Get a custom essay. Treatment for hemophilia includes clotting factor therapy, injections of missing clotting factors, desmopressin (a hormone injection/nasal spray to treat minor bleeding), gene therapy, and factor concentrates. There are others, but these are just a few, and there are some still in the process of being perfected. Each treatment varies based on the severity of the disorder.