The world has advanced rapidly. There are copious amounts of advancements that have occurred during the past couple of years in the field of medicine, treatment and technology. These advancements have added a few more years of life to people and the health of each individual ,on average, is better. While these upsides of the medicine exist, there are also some downsides. Regardless of the many positives, there still exist an abundance of diseases; People have been unable to eradicate them. Science has been observing these diseases for countless years and is trying to find a cure. There is a limited amount to what people can do and when this happens, mother nature has to step in. It is widely believed that the nature chooses "the fittest" to survive and pass on the genes so therefore, it is hoped that nature will choose against these diseases and eradicate them. One disease which has killed many to date is Sickle Cell Disease which was first discovered in 1910 by Herrick ( Frenette, Paul S., and George F. Atweh 850). Until nature declares its verdict, the scientists are working diligently to find valuable treatments for Sickle Cell Disease to alleviate the pain of those suffering. From the discovery of this disease to now, multitude of different types of treatments have been discovered but not all have been effective. It is imperative for scientists working on betterment of the treatment to understand the mechanisms of the treatment from prior times. The availability of this information makes them more knowledgable and less prone to repeating the mistakes of the past. For the general public, such information educates them about Sickle Cell Disease and keeps them informed about the treatments which are available.
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People all over the world are affected by the Sickle Cell Disease. This should be the sole basis for better and increased funding to be provided for more research into this subject. In the United States alone, there are more than 72,000 people affected with the Sickle Cell Disease. The group of people who are the focal target of this disease are of the African descent. This disease occurs when a child inherits a recessive gene from both parents (National Institute of Health 2).
It was assigned the named "sickle cell" because of the appearance of the red blood cells in people inflicted with this disease. Normal people have hemoglobin in dome shaped while the people inflicted with sickle cell have hemoglobin which is in the shape of a crescent. The genetics of sickle cell disease lies in the defect of the chromosomes. The Hemoglobin molecule is the one that is affected and the inheritance is autosomal recessive. Years after the discovery of this disease, it was established by Ingram et al. that this disease was due to the glutamine to valine substitution. This incident occurred at the sixth residue of the beta globin peptide chain. When it was discovered that the disease was associated with the hemoglobin molecule, a lot of research was conducted to obtain more information about the hemoglobin molecule. After years of research, it was discovered that the hemoglobin molecule was a tetrameric molecule and it consisted of two pairs of polypeptide chains which were identical. Further research indicated that the hemoglobin consisted of beta and alpha globin genes. The alpha genes are located on chromosome 16 while the beta like globin genes are found on chromosome 11. It was also noted that the hemoglobin genes are different throughout ones development. During the fetal stages of life, Hemoglobin Hb F is dominant and in the postnatal times, Hb F is replaced by Hb A (Frenette, Paul S., and George F. Atweh 854).
Individuals who are homozygous recessive for the hemoglobin molecule are the ones who express the trait. These individuals are the ones who display the characteristics of the trait. Some of the characteristics associated with this particular disease are shortness of breath, numbness in hands and feet, pale skin, frequent headaches, and dizziness. One of the most common symptoms of sickle Cell Disease is feeling sudden outbursts of pain throughout the body. This is referred to as the sickle cell crisis which dominantly affects the lungs, bones, joints and abdomen. This type of crisis is mainly due to the sickle red blood cells being clumped in the flow of blood. It has been researched that this type of pain can be chronic or acute. Acute pain has been more reported making it the more frequent type of pain observed among the affected people (Sickle Cell Anemia, Signs and Symptoms 1).
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This disease harms an individual by alternating the shape of hemoglobin . The sickle shaped cells have a very difficult time traveling through the arteries because they easily become tangled and hinder the blood flow. Once the blood flow is affected, it can cause massive amounts of damage to the vital organs of the body. The organs need a constant supply of well oxygenated blood in order to function properly. Two major organs that can be severely affected by a compromise in the blood supply are the brain and the lungs. Stroke and other life threatening problems such as acute chest syndrome can arise if the blood supply is decreased to the brain and the lungs. At an early age, there is another organ which can be affected by the disease and that organ is the spleen. Having an impaired spleen puts an individual at a severe disadvantage because this organ functions in the immunity system. If the spleen is damaged, the individual will become susceptible to getting other diseases through various bacterias and viruses. Even with the availability of advanced care, the people affected with the Sickle cell disease have curtailed life span and are affected with various other diseases; This is due to a deficiency in their immune system. Getting treated for this disease becomes extremely time consuming as well as expensive. (National Institute of Health 6)
In order for one to get adequate treatment for this type of disease, one needs to get diagnosed. The diagnoses of sickle cell disease is not very difficult. One of the methods used to determine if a person has the disease is by using the gel electrophoresis. This method is sufficient to diagnose some, if not all, types of sickle cell disorders. The main point is to find this disease during the prenatal period; This task can bring about difficulties (Frenette, Paul S., and George F. Atweh 855). Discovery of the disease during this time period would give the potential parents time to make a choice to if they want to go ahead with the pregnancy or terminate it. During these times, enough information should be provided to the couple so they can make an educated decision based on the information. Before the advent of high-tech technology, the diagnosis was performed in the twentieth week of pregnancy by taking the fetal blood sample for analysis. At this time in pregnancy, the abortion would be too complicated to perform and the couple would be left with no choice but to go ahead with the pregnancy. This situation can safely be avoided now by using the advance procedures such as chronic villous biopsy in the first trimester of pregnancy. This biopsy lets the doctors analyze the fetal DNA (Frenette, Paul S., and George F. Atweh 855).
Over the years, a vast amount of research has been conducted to find a reasonable cure to this growing epidemic. Among the many types of studies conducted, the fetal hemoglobin has given a ray of hope for the betterment of the state of sickle cell. The fetal and the adult hemoglobin differ. Scientists have established that the people with sickle cell disease seem to show a "profound difference" in their health if their adult hemoglobin was replaced with the fetal hemoglobin. This activity was tested on both the normal and the affected individuals. The replacement of the hemoglobin in the normal set produced no difference in their health but the replacement of the hemoglobin in the affected individuals produced massive amounts of difference. The change was observed because the postnatal hemoglobin was the form which was altered and replacing it altered the health of the affected individual. This could be a potential cure or a type of treatment. Further research ,during the 1948s, observed very young infants who still had fetal hemoglobin in their blood circulation. This showed that these young infants had milder effects of the disease than the adult infected individuals. After this discovery, the race to find the fetal hemoglobin cure began. This eventually led to the discovery that an anti-cancer drug called 5-azacytidine could reactivate the production of fetal hemoglobin. This drug was tested on terminally ill patients and it showed to greatly improve the symptoms but unfortunately this drug was never accepted as a proper treatment. This was because it is a toxic carcinogen. (National Institute of Health 7)
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The research continued. Eventually another stimulator of the fetal hemoglobin was discovered. Butyrate is a fatty acid which binds to the DNA. This substance is not toxic because it is naturally produced in humans. Further research is underway to find the mechanism of Butyrate. The aim of the scientists was to find an anti-cancerous drug similar to 5-azacytidine and this was accomplished with the discovery of hydroxyurea. This treatment brought about incredible results. It worked to reduce painful sickle cell episodes, acute chest syndrome and the amount of blood that the patients received. This became a major step forward to the sickle cell treatment. (National Institute of Health 8)
Another treatment which sought way into the medical field was transplantation. This treatment was successfully being used for other severely affecting diseases such as leukemia but for a long time, this treatment was not considered as a potential treatment for sickle cell disease. This treatment was not very easy and was full of danger as it required the bone marrow to be replaced in the affected person. Before a person could become a candidate for this treatment, he or she would have to undergo another treatment which included the destruction of their own bone marrow. This was a dangerous process which was performed by the use of chemotherapy. Getting their bone marrow destroyed before the transplantation was the step many people did not survive and the people who did survive this part became inflicted with life long infections. This procedure was extremely dangerous to use on all sickle cell patients so therefore it became reserved for only highly affected individuals (National Institute of Health 10).
Normally when one hears about the sickle cell disease, one only associates it with the shape of the hemoglobin but the fact of the matter is that it is more than that. The sickle cell patients have affected blood vessels as well. One of the most profound differences is that the endothelial cells from the affected individuals seem to enter into the circulation at an extremely high rate. When the red blood cells and the endothelial cells come into contact with each other, they are capable of causing an immune response. An immune response would lead to inflammation which would reduce the amount of space in the blood vessels available for the blood to flow. Furthermore, this would amplify the chances of the formation of a blockage. Over the years, it has been proven that the blood needs to flow freely threw the blood vessels in order to fully supply the various organs. Once the blood flow diameter is decreased for any reason, there is a compromise in the amount of blood supplied to each organ. If the amount of blood is decreased, the organs will not function properly and diseases like Heart attack or the Stroke can occur. To prevent this from happening in Sickle Cell Disease, nitric oxide is used. It has been noted that the people afflicted with sickle cell disease and narrow blood flow space have low levels of nitric oxide. This shows that use of medication related to heart attack is also used in a disease like sickle cell (Frenette, Paul S., and George F. Atweh 856).
Sickle Cell Disease is a highly serious disease affecting people by thousands. Many advancements have occurred regarding this disease and the root basis have been found but more still needs to achieved. More work still needs to be done to achieve the target. There are many associations working together to find the cure and it is hoped that in the near future, the cure will be obtained. Darwin's theory states that it is the "survival of the fittest" which governs the beings on earth. According to this law, nature selects the best traits to be passed on to the next generations. It is hoped that nature will select against traits such as sickle cell and eventually eradicate them from the face of earth.
Frenette, Paul S., and George F. Atweh. "Sickle Cell Disease: Old Discoveries, New Concepts, and Future Promise." Journal of Clinical Investigation 117.4 (2007): 850-58. Print.
Serjeant, Graham R. "The Emerging Understanding of Sickle Cell Disease." British Journal of Haematology 112.1 (2001): 3-18. Print.
"Sickle Cell Anemia, Signs and Symptoms." National Heart, Lung and Blood Institute. Web. 26 Nov. 2010.
United States of America. National Institute of Health. US Department of Health and Human Services. Sickle Cell Research for Treatment and Cure. NIH Publication, 2002. Print.