Sickle Cell Anemia - Article Example

Name: Course: Tutor: Date: Sickle Cell Anemia Introduction Sickle cell anemia involves some inherited disease, which cause the red blood cells to a shape that is quite abnormal. Usually the condition causes anemia, including painful events and many health difficulties. Such a condition affects hemoglobin of the red blood cells, a protein that usually helps to transfer oxygen in the entire circulatory system of the human body. Sickle cell anemia usually affects very many people, in which case it is estimated at 80, 000 to 100, 000 people in America. In essence, the disease is among the common genetic disorders in the US. It is quite estimated that almost 1, 000 babies are being born with the disorder in the US alone while, in the whole world, the disease is thought to affect more than 50, 000 babies each year. Therefore, having the knowledge of the disease is quite significant for people to be aware of the symptoms, and effects of the disease in order that they may stay safe and seek the necessary medical attention and treatment (Bjorklund 28). Background It should be known that sickle cell anemia is an inherited disease, in which case it causes red blood cells to have some unusual shape and also get stuck inside the blood vessels, including the fact that it makes it quite difficult to transfer oxygen all over the human body. One should also be aware that the disease is among the common disease genetic disorders that are in the United States. In addition, quite many people are born with the disorder, as it does not develop in adulthood, with the fact that it is not contagious. This implies the fact that the disease is carried down from the parent to the child. Sickle cell anemia is treatable in hospital, although it is truly chronic and it is not a death sentence. If affects almost any individual and races, but according to researchers, majority of them are African American with an estimate of 60 to 80 percent. Indeed, the affected patients need some comprehensive care (Bjorklund). Sickle cell anemia’s clinical collection was first done and explanation given in 1904 by Chicago cardiologist James Herrick. In 1922, the disease was renamed sickle-cell anemia by Vernon Mason. Nevertheless, the elements of the disorder had been recognized much before. In 1949, Pauling and colleagues were able to show that sickle cell disease occurs because of some abnormality in the molecule of hemoglobin. In essence, this was the first time that the disease related to genetics was associated to some mutation of protein, in which case it made some milestone in the history of biology that relates to molecules. The name was then published as sickle cell anemia. The origin is thought to be from Arabian Peninsula, and then it had to spread to various places such as Asia and Africa (Peterson). Sickle cell anemia affects also every significant organ and also the body systems. This is quite because such organs and body systems depend on blood in order to transfer the necessary nutrients and also oxygen. Some of the systems that the disease affects involve the vascular system, blood filtering system, immune system, and respiratory systems. Vascular systems usually transfer blood to all cells in the body of a human being and are the most affected system by the disease. In addition, the organs of the body that ensure filtration, storage, and renewal of the blood get affected, for instance the liver and spleen. Immune system is affected because of the fact that, immune cells functions in the presence of the flow of blood. Discussion Sickle cell anemia occurs because of some point mutation in the hemoglobin gene. It involves some recessive trait that requires some two copies of the mutated allele that shows the symptoms. This implies that both parents involved must be the carriers of the mutated allele or even they must contain the disorder. Utilizing the chorionic villas sampling, individuals who are mostly at risk because they carry a child with the disease can contain the prenatal testing in order to have whether the fetus has the disease, is a carrier. Carriers of the allele have sick cell trait and demonstrates some minor sickle cell phenotype in the red blood cells. Since they have normal allele, their lifestyles are not affected. Such people should avoid the situation where oxygen presence is low, for instance high altitudes (Alcamo and Barbara 287). Normal and mature red blood cells usually have the shape of biconcave discs. In most cases, they have no full shapes, and they can also change shapes whenever they squeeze through the tiny capillaries without even bursting. Usually the binding of hemoglobin affects the red blood cell shapes. The hemoglobin polymerizes in order to make chains that can be extremely long, for instance 15 microliters when concentration of oxygen is low. The chains create deoxygenated cells having dropped off oxygen in the extremities. The hemoglobin becomes damaged when there is constant polymerization and de-polymerization. In addition, the red cells become damaged because of the cycle that stretches and un-stretches up to some time in a short time as they travel via the blood vessels. Red blood cells change in shape and heme may be released from the hemoglobin and attach to membrane of the cell. The reactive oxygen damages cell membrane. Antibodies leading to low members of red cells to transfer oxygen to tissues can destroy such cells (Alcamo and Barbara 287). Fewer red blood cells imply that the tissues will have to receive less oxygen and also patients will have to experience some dizziness. Blood vessels will have to dilate in order to help transfer of oxygen. Low concentrations of blood will make the viscosity of blood be lower, it will provide less resistance in blood vessels, and this will increase the quantity of blood to the heart. There will be some workload at the heart. Sickle cells will cause narrowing and blockage of blood vessels, in which case it will hinder the circulatory system. Decrease for hemoglobin will also affect the blood filtering system. In addition, reduced flow of blood affects the immune system and can lead to other diseases such as skin ulcers, slowed healing, increased infections and other illnesses. Sickle cell anemia is caused by changes in genes in hemoglobin. The shape become sick-shape and contains shorter life span causing anemia. Some of the symptoms of sickle cell anemia involve paleness of skin, and this is evident under fingernails, eyelids among others. The other symptom involves weakness due to shortage of normal red blood cells, heart failure, and also shortage of breath. The shock that is also a symptom is because of low blood pressure, decrease in consciences and rapid cells. The disease is diagnosed through a test referred to as hemoglobin electrophoresis. Sickle cell anemia has no cure. The only option is the treatment to focus lessening patient’s symptoms and also lengthening the lives. Drug hydroxyurea can decrease the attacks of pain in people with the disease. One should also prevent serious infections related to the disease, and immunization is quite helpful. Blood transfusions and bone marrow transplants can also help in the treatment of the disease (Caple and Schub). Summary There are quite many clinical research studies taking place and people infected with the disease should find some information concerning the disease in such places. People can also participate in various studies that will help in access to fresh medicines and various treatment options. Such clinical research ought to be started all over the whole world in order to reach many people. Self-care tips should also be advanced in many countries affected by the disease. This is by ensuring that couples having sickle cell anemia or carriers of the disease do not spread the disease. Screening tests should also be improved in order to ascertain the carriers. Couples found with the carriers ought to look for some genetic counseling. People should also understand what cause the painful events, and they should avoid such instance that cause low oxygen for instance cigarette smoking, high altitudes and also plane flights. Children should also take antibiotics after every 5years to control infections. Children should make sure they take normal school duties. The creation of support network will also help the families affected by the disease as it will help in easing stress and worry. Works Cited: Bjorklund, Ruth. Sickle Cell Anemia. New York: Marshall Cavendish Benchmark, 2011. Print. Peterson, Judy M. Sickle Cell Anemia. New York: Rosen Pub, 2009. Print. Alcamo, I E, and Barbara Krumhardt. Anatomy and Physiology the Easy Way. New York: Barron's, 2004. Print. Caple, C, and T Schub. "Sickle Cell Anemia." (2012): CINAHL Plus with Full Text. Web. 4 May 2013. Miller, Jeffery L., and Emily Riehm Meier. "Sickle Cell Disease in Children." Drugs 72.6 (2012): 895-906. Academic Search Complete. Web. 4 May 2013. Kirkham, Karen, and Alecia C. Nero. "Adult Sickle Cell Anemia." Primary Care Reports 17.12 (2011): 121-135. Academic Search Complete. Web. 4 May 2013. Mansilla-Soto, Jorge, Isabelle Rivière, and Michel Sadelain. "Genetic Strategies for the Treatment of Sickle Cell Anemia." British Journal Of Hematology 154.6 (2011): 715- 727. Academic Search Complete. Web. 4 May 2013. Read More