Genetic Diseases


Genetic Diseases Essay, Research Paper

Hemophilia Hemophilia is the most famous bleeding disease. In this disease, there is a lack in the amount of a certain protein called anti-hemophilic globulin, or Factor VIII, in the blood. Factor VIII is extremely vital in the clotting of the blood. Because of the way hemophilia is inherited, only males can contract this disorder. Hemophilia is passed from generation to generation by female “carriers”. In the United States 1 male in every ten thousand has hemophilia. Symptoms appear in childhood as soon as the infected male becomes active. Bruises on the knees and elbows from crawling and cuts that bleed for excessive periods of time occur as a result of hemophilia. Such bleeding is treated by injecting a concentrated form of Factor VIII into a vein. The risks of being killed or crippled by hemophilia are drastically reduced, because of effective treatment. It is often necessary to continue the injections regularly after extensive bleeding. Sickle Cell Anemia Sickle Cell Anemia is an inherited disease in which the red blood cells contain an abnormal hemoglobin, called hemoglobinS. If infected you have no normal hemoglobin in your red blood cells because, you have inherited a sickle cell gene from each parent. HemoglobinS also causes the red blood cells to become deformed in shape, or “sickled” especially in the parts of the body where the oxygen level is low. The abnormal blood cells may clog vessels and prevent blood from reaching important body tissues. Attacks of this nature can be excruciatingly painful. Symptoms include severe attacks of pain in the abdomen and bones. Blood clots may develop in important organs such as the lungs, the kidneys, the brain, the heart, and others. Blood clotting is more likely to occur during serious infections or after serious injuries. Sickle Cell Anemia effects people of African descent and people from some parts of Italy, Greece, Arabia, and India. About one in every one thousand African Americans has Sickle Cell Anemia (American Medical Association Family Medical Guide 422). Muscular Dystrophy Muscular Dystrophy is the progressive wasting and weakening of the muscles of the body. There are several forms of Muscular Dystrophy, but all types of this disease are rare. The most common type of Muscular Dystrophy is Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy starts in the early childhood stages, and is usually detected before the child reaches five years of age. This disease affects the muscles of the shoulders, the hips, the thighs, and the calves. Over time Muscular Dystrophy causes crippling and immobility. This disorder, like hemophilia and color blindness, only affects the male population and is inherited through female “carriers” of this disease. In thirty to fifty percent of Muscular Dystrophy cases, the disease occurs in a family that has no detected history of Muscular Dystrophy. Symptoms include: the boy having trouble climbing stairs, he falls easily, has trouble lifting his arms over his head, and finds it difficult to get up. The affected muscles appear larger than the normal muscles, because fat replaces the wasted and weakened muscle. There is no cure for Muscular Dystrophy, but physical is given to infected patients to minimize deformities in the muscle. The infected male will contract a chest infection, such as pneumonia, which will prove fatal by the age of twenty.

Cystic Fibrosis Cystic Fibrosis is an inherited disease affecting the lungs, and the pancreas that makes it difficult to breathe and to digest food. This disease affects one in every two thousand white children(Macmillan Health Encyclopedia Volume 3); Cystic Fibrosis is very rare among Africans and Asians. Cystic Fibrosis is caused by a defective gene, which is recessive. This means both the mother and the father of the child must contribute the gene in order for the offspring to become infected with Cystic Fibrosis. If both parents contribute the Cystic Fibrosis gene, the child they bear has a fifty percent chance of becoming a “carrier”, The child has a twenty-five percent chance of becoming infected with Cystic Fibrosis, and a twenty-five percent chance of escaping the disease. Genetic tests are used to determine if parents are in danger of producing a child with Cystic Fibrosis. If a person has inherited Cystic Fibrosis, their lungs are producing a thick, sticky mucus that clogs the breathing passages and helps the growth of the infectious microorganisms. Symptoms include respiratory infections, cough, loss of breath, and wheezing. Malnutrition, diarrhea, and pale, foul smelling bowel movements are also common. This occurs because the pancreas fails to produce enzymes that break down fat and nutrients. No cure for Cystic Fibrosis has been found, but antibiotics will help to decrease the severity of the symptoms. The infected will sometimes benefit from lung and heart-lung transplants. Tay Sachs Tay Sachs is a extremely serious and dangerous brain disorder that leads to a abnormally early death Tay Sachs was formally known as Amaurotic familial idiocy(American Medical Association, Encyclopedia of Medicine). Tay Sachs disease is caused by a reaction of hexosaminidase, an enzyme vital for regulating the body’s important chemical reactions. Deficiency results in a harmful build-up of dangerous substances in the brain. Tay Sachs is a most common disease among Ashkenazi Jews. The gene for Tay Sachs is recessive and the Ashkenazi Jew has a one in twenty-five chance of carrying the Tay Sachs gene. Symptoms, which appear within the first six months of the infected child’s life, include blindness, dementia, deafness, seizures, and paralysis. Symptoms progress quickly and the infected child usually dies before he /she reaches three years of age. If a pregnant couple discovers they are carrying an infected child, they may choose to have an abortion. Bibliography American Assoc. of America Family Medical Guide. 1982InternetMacmillan Health Encyclopedia. Vol 3 p 42American Medical Assoc. of America Encyclopedia of Medicine Genetic Diseases

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