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Sickle Cell Anemia and Children - Essay Example

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This research brief will outline and survey some of the most pertinent aspects of sickle cell anemia. In turn, and more specifically, it will define sickle cell anemia, describe its origins, symptoms and treatments, discuss survival rates as affected by gender and age, present the most common outcomes for children with the disorder…
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Sickle Cell Anemia and Children
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Research Brief: Sickle Cell Anemia and Children The impact of sickle cell anemia on children, an inherited blood disorder, is both severe and chronic. This is hardly a rare or an insignificant type of medical problem; quite the contrary, it is estimated that this genetically-transmitted blood disorder affects millions of people throughout the world, more than seventy-two thousand people in the United States, and occurs in one in five hundred births of African-Americans. Thus, this blood disorder is significant in general populations and critical in the African-American population. This research brief will outline and survey some of the most pertinent aspects of sickle cell anemia. In turn, and more specifically, this research brief will define sickle cell anemia, describe its origins, symptoms and treatments, discuss survival rates as affected by gender and age, present the most common outcomes for children with the disorder, and examine the recent research dealing with cell transplantation as a treatment option for children. 1.1 What is Sickle Cell Anemia? Sickle cell anemia is classified as a type of genetic disorder; more specifically, this disorder is related to abnormalities of the blood. The disorder is caused by sickle hemoglobin and it affects the red blood cells. The process of the disorder involves a deoxygenation of the red blood cells which causes the red blood cells to change their physical shape. The consequences are significant; indeed, the changed red blood cells become lodged or otherwise stuck in the blood vessels. In this way, oxygen is trapped upstream, and downstream tissues and organs are not allowed to receive the oxygen necessary for healthy functioning and maintenance. In short, sickle cell anemia is a blood disorder, passed on genetically, in which abnormal red blood cells inhibit the transmission of necessary oxygen. This disorder is so challenging because it is both a lifelong disease and a chronic disease. People suffering from sickle cell anemia, for example, may experience relatively long periods of pain-free life. These periods, however, are inevitably interrupted by occasional painful attacks. These attacks may be manifestations of damage to internal organs, and in some instances may result in strokes. The data further demonstrates that lifespans for sufferers of sickle cell anemia tend to last no longer than forty years of age on average. Finally, this genetic disorder tends to involve blacks and people from sub-Saharan Africa much more severely than other racial groups (Chestnut, 1994: 236). 1.2 What are the Origins, Symptoms and the Treatments? Diagnosing sickle cell anemia is complicated by the fact that not all patients with the disease suffer a similar degree of anemia. At the basest level, sickle cell anemia has been traced to the eleventh pair of chromosomes, which are responsible for producing normal hemoglobin. A mutation in this gene is thought to be responsible for sickle cell anemia and the consequent blood disorder and symptoms. A majority opinion seems to be that this genetic mutation was caused by malaria; more ironically, the sickle trait was an evolutionary trait which protected people from mosquitoes carrying malaria (Goldberg, 1989: 268). This sickle cell trait is a recessive genetic trait. As such, a child will not develop the blood disorder unless the child receives the sickle trait from both parents. A child can still be a carrier, however, and pass on the sickle cell trait to offspring in the future if the child receives the trait from a single parent. There are a variety of symptoms and complications associated with sickle cell anemia. Some of the more common symptoms and complications, for purposes of illustration, are anemia, pain crisis, acute chest syndrome, splenic sequestration, stroke, and jaundice. All of the major organs may be damaged as well as bones and joints. In children, these symptoms may manifest themselves most specifically in terms of early gallstones, premature bone damage, and an increased likelihood of infections. It is important to diagnose sickle cell anemia early in order to attempt to minimize the severity of complications for children. The most common diagnostic tool is a blood test, known as hemoglobin electrophoresis, which can identify the presence of the sickle cell trait. Treatment options for children are rather limited, but evolving. Indeed, treatment options are often age-related. Treatment options for children, in some ways, are quite different than treatment options for adults. For children, where there has been an early diagnosis, treatment options may include pain medications, increased water intake, blood transfusions, penicillin, folic acids, hydroxyurea, and bone marrow transplants. More recently, and discussed below, are treatment options dealing with cell transplants. These cell transplants hold promise for children suffering from sickle cell anemia, but also pose very real risks. 1.3 Survival Rates: Gender and Age Analysis Children suffering from sickle cell anemia face very real challenges. As reported by Buchanan & Quinn et al, citing a National Institute for Health study in 1994, the average survival rate for male children with sickle cell anemia was forty-two years and the average survival rate for female children with sickle cell anemia was forty-eight years (2004: p. 4025). What is most significant, in terms of the impact of sickle cell anemia on children, is that the authors found a strong correlation between childhood mortality and overall shortened lifespans (2004: p. 4026). The survival rates, therefore, are highly dependent on treatment in the childhood years. It may, in many cases, be too late to cure or reverse the disorder in later years. In the final analysis, the critical years for both diagnosis and for treatment are the childhood years. 1.4 What are the Common Outcomes of Sickle Cell Anemia? Children whom are not treated effectively for sickle cell anemia are highly likely to suffer a variety of complications in later life. In a study of the common outcomes of sickle cell anemia for children not effectively treated, Chan & Hiti et al found that an overwhelming amount of sickle-crisis induced hospitalizations were precipitated by acute chest syndrome and avascular vescrosis (2005: 368). In addition, they found that many of these hospitalizations revealed irreversible organ damage (2005: 370). The significance is that childhood is the time in which the healthy condition of organs may be preserved; delaying radical treatment options is likely to result in irreversible types of organ damage. 1.5 What are the Benefits and Risks of Cell Transplantation? It has been established that there are high levels of child mortality in the sickle cell anemia context and that delaying radical treatments is likely to result in irreversible organ damage and other serious complications such as stroke. The time for treating this blood disorder most effectively, in the final analysis, is during childhood. One promising treatment option involves cell transplantation. Significantly, in a study published by Walters, it was found that there was a much higher probability of a successful outcome with children when compared to adults (2004: 34). The problem is that the cell transplant treatment is not foolproof; quite the contrary, there are certain risks associated with this type of treatment. Some of these risks, as noted by Walters, include infertility, delayed immune reactions to infections, and death (2004: 35). In short, a promising treatment option for children may fail and it may cause additional complications. One must balance the potential benefits against the potential risks. In the childhood context, facing a life fraught with pain and suffering, enduring the risks may be a viable option The Impact of Sickle Cell Anemia on Children: An Annotated Bibliography Buchanan, G. R., Quinn, C. T. & Rogers, G. R. “Survival of Children with Sickle Cell Disease.” Blood 2004; 103:4023-4027. (A study of the survival of newborns born with sickle cell anemia in Texas. The study identified newborns with sickle cell anemia and conducted follow-up screening for eighteen years. The study found a high level of childhood mortality, identified causal factors, and engaged in a comparative analysis of various types of complications). Chan, L. S., Hiti, J., Johnson, C., Powars D., & Ramicone E. “Outcome of sickle cell anemia: a 4-decade observational study of 1056 patients.” Medicine (Baltimore). 2005; 84:363-76. (A longer-term observational study of the outcome of sickle-cell anemia and the progression of complications from childhood to adulthood to death. This study further subdivided childhood risks and complications according to age, sex and hematalogic status). Chestnut, D. (1994). “Perceptions of ethnic and cultural factors in the delivery of services in the treatment of sickle cell disease.” Journal of Health and Social Policy, 5(3/4), 236. (An overview of the racial composition of patients suffering from sickle cell anemia and whether effective treatment options are inhibited by notions of discrimination and prejudice. This study has interesting and profound implications for African-America children suffering from sickle cell anemia). Goldberg, M.F. & Savitt T.L. “Herricks 1910 case report of sickle cell anemia. The rest of the story.” JAMA (Journal of the American Medical Association). 1989;261:266-271. (An overview of the historical origins of sickle cell anemia and the medical response to the blood disorder. The article shows how the childhood years have not been emphasized, in terms of radical treatment options, until recent times). Walters M.C. “Sickle cell anemia and hematopoietic cell transplantation: When is a pound of cure worth more than an ounce of prevention?” Pediatrics Transplant. 2004; 8 Supplement 5:33-8. (Both a study of the costs and benefits of cell transplantation techniques as well as a call for more serious treatments in the childhood context. Also, an illuminating comparative contrast between cell transplants in children and cell transplants in adults). Read More
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