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SKG095 Human Genetics And Health Issues

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SKG095 Human Genetics And Health Issues Question: Topic : Sickle Cell Anaemia        An overview of the nature of the disorder including epidemiology – this can be brief Overview of the clinical features at presentation and blood profile Diagnostic strategy – discuss how we currently approach the diagnosis of this and how introduction of molecular investigations have improved diagnosis Treatment options/ management of the condition – there needs to be critique around how the conditions is currently treated/ managed. Has there been any recent improvement to treatment in this area – again critique this Answer: Introduction Sickle cell anaemia is haemoglobin disorder that widespread around the world with devastating effects. The haemoglobinbinopathies, specifically thalassaemias and disorder are internationally common. Approximately 5 per cent of the global populace carries genes liable for haemoglobinopathies. Annually, around 300,000 babies around the world are born with serious haemoglobin disorders that comprise over 200,000 cases of the disorder in Africa only (Simon, Long & Koyfman, 2016, pp. 370). Worldwide, there are extra carriers (that is, healthy individuals who have inherited only single mutant gene from one parent) of thalassaemia that sickle cell anaemia; however, the high incidence of the sickle cell gene in some regions to a high rate of affected newborns. Thus, the disorder has become more widespread in Africa due to the sickle cell trait presents some resistance to falciparum malaria in a critical age of early childhood, which favour the endurance of the host along with succeeding spread of the abnormal haemoglobin gene. In addition, sickle cell anaemia covers a broad spectrum of diseases (Rees, Williams, & Gladwin, 2010, pp. 2018). The majority of the affected individuals have persistent anaemia with haemoglobin absorption of about 8g/dl. Hence, the primary challenges emanate from the propensity of the red blood cells (RBCs) to assume a sickle shape, as well as block capillaries at low oxygen tension.  In kids, sickle-shaped RBCs often become ensnared in the spleen that lead to a grave danger of death prior to the age of 7 years from an abrupt deep anaemia linked to quick spleen swelling or due to absence of splenic job allows an overpowering infection. Hence, between six and eighteen months of age of affected most often present with aching inflammation of hands and/or feet. The survivors can too suffer recurring, as well as erratic sever painful crises, plus acute chest syndrome (pneumonia or pulmonary infraction), bone or joint necrosis, priapism or renal failure (Nolan, Zhang & Lash, 2008, pp. 433). For the majority of the patients, the occurrence of complications may be lowered by plain protective strategies, like prophylactic use of penicillin in childhood, evading extreme heat, or cold along with dehydration. The paper will examine the overview of clinical feature of sickle-cell anaemia, diagnostic strategy and the treatment/ management of the disease. Overview of Clinical Features The disease covers a broad range of disease. The public health impacts of sickle-cell anaemia are noteworthy. The implications on human health can be evaluated against the benchmarks of baby along with under-five death. A growing percentage of affected kids currently stay alive past 5 years; however, remain at risk of early demise. When wellbeing implications is assessed under-five mortality, the disease contributes around 5 per cent of under-five mortalities on the African  continent, over 9 per cent of these deaths in West Africa, and up to 16 per cent of under-five deaths in individuals west African nations.  The mainstream of the individuals affected have chronic tendency of the RBCs to become sickle-shaped, as well as block capillaries at low oxygen tension (Yallop, Duncan & Norris, 2007, pp. 844). In addition, in kids, sickle-shaped RBCs frequently become ensnared in the spleen that results in a grave risk of death before the age of 7 years from an abrupt deep anaemia linked to speedy splenic swelling or due to the absence of splenic functions allow an overpowering infection. Between 6 and 18 months of age children with the disease most often present with excruciating enlargement of the hands and/or feet. The survivors can too suffer recurring along with erratic serious painful crises, and “acute chest syndrome”, bone or joint necrosis, priapism or renal failure (Alexander, Higgs, Dover & Serjeant, 2004, pp. 606). Additionally, for the mainstream of the patients, the occurrence of complications may be lowered by simple defensive strategies like prophylactic use of penicillin in childhood, evading extreme heat and cold along with dehydration plus contact a specialist centre as soon as possible. These protections are most efficient if vulnerable babies are recognized at birth. Also, some patients with sickle-cell anaemia have such grave problems, which they require customary blood transfusion along with iron-chelation therapy. These circumstances together with the varying signs of the disease in Africa create an urgent need to build up models of care suitable for the management of sickle-cell anaemia (Naymagon, Pendurti & Billett, 2015, pp. 375). Moreover, infants plus children with the disorder are particularly vulnerable to bacterial contagions, like those that result in meningitis, as well as blood infections. These contagions are a primary cause of deaths among the infants with the disorder. They may be prevented by immunization along with prophylactic penicillin. Stroke has also been reported as a clinical feature of sickle cell anaemia. An approximated 10 per cent of kids with the disorder develop signs of stroke that occurs when a blood capillaries in the brain becomes blocked-up whilst another 20 per cent are found to have clinically silent strokes through the use of MRI imaging of their brains. Stroke might lead to permanent disability of learning challenges among the affected children. Nonetheless, physicians currently may identify most kids who are at a risk of increased symptomatic stroke with a special ultrasound test (Habibi, Mekontso-Dessap & Guillaud, 2016, pp. 989). There is also delayed growth in children with the disorder. The RBCs in the body supply oxygen along with the nutrients, which are needed for growth. This implies that a shortage of red blood cells slow growth in infants and children and delay puberty among the teenagers. Vision problems have been also identified as one of clinical features of sickle cell anaemia. Minute blood vessels in the eyes might become capped with sickle cells. Thus, this may harm the retina-the fraction of the eye that produces visual images resulting in vision problems of the affected individual (Dampier, Setty & Eggleston, 2004, pp. 785).   Diagnostic Strategy Screening for sickle cell anaemia is performed with a simple blood test, which detects the existence of the abnormal haemoglobin protein. In several states, including the Great Britain and the United States, the blood tests are part of a routine newborn screening. Adults may too get the blood test if they are concerned they may have sickle cell trait. The newborns are often screened for sickle cell anaemia soon after birth. It has been established that early diagnosis is key to providing the best treatment and prevent further complications (Anand, Willson & Berger, 2015, pp. e1208). This is attributed to the fact that sickle cell anaemia may lead to serious infections within weeks of birth. Blood test has been found to be the appropriate diagnostic strategy for sickle cell anaemia. Testing and screening makes sure that infants with the disease receive appropriate treatment to protect their health. Blood tests may be performed at any time to check the condition and ascertain individuals at danger of having a kid with sickle cell anaemia. Sickle cell test usually looks for the presence of haemoglobin S, which is responsible for sickle cell anaemia. A negative test is normal that indicates that the haemoglobin is normal while a positive test can imply that the individuals have sickle cell trait or sickle cell disease (Treadwell, Telfair & Gibson, 2011, pp. 116).  Screening throughout pregnancy is performed to check if the baby is at danger of being born with the condition. Early screening during pregnancy is provided to all the pregnant females in the United Kingdom. In some regions of England in which conditions of sickle cell anaemia are more widespread, pregnant females are provided with a blood test to confirm if they have sickle cell anaemia. In regions where the sickle cell anaemia of less widespread, a questionnaire regarding the origins of the family is utilized to ascertain whether the mother must have a blood test for the disease. Usually, the screening process is ideally performed before the mother is ten weeks pregnant that will allow consideration of additional blood tests to establish if the baby would be born with the disorder (Jones, Duncan & Thomas, 2005, pp. 530). Patients who test positive following the screening for abnormal haemoglobin do not necessarily have the disease and can only have sickle cell trait. As a result, additional testing is required to make a definite diagnosis. A blood test can too be repeated to eliminate a false of positive outcome after the test. Patients diagnosed with the disease should frequent laboratory tests comprising urine and blood tests to monitor them for complications such as infections or kidney problems. Patients can too get a transcranial Doppler ultrasound screening (TCD), which is a painless process that utilizes sound waves to investigate flow of blood in the brain. This allows the doctors to evaluate the risk of stroke, as well as begin treatments to lower the danger if essential. Nonetheless, getting a sickle cell test within 90 days following a blood transfusion can result in inaccurate results. The process of transfusion may lower the level of haemoglobin s-protein that causes sickle cell anaemia-in the blood systems (Smith, Penberthy & Bovbjerg, 2008, pp. 94). Management/Treatment In many nations in which the disease is a main public issue, its management has become ineffective, national programs do not survive, the essential facilities to management patients with sickle cell anaemia are normally lacking. In addition, systemic screening is not a widespread exercise plus diagnosis is normally undertaken when a patient exhibits with serious complication. The undemanding in addition to cost-effective processes like the utilization of penicillin to stop possible infections are not extensively accessible in many nations. Therefore, the primary confront is to advance the future for the clients with the condition. The primary element of all-inclusive care for the patients with the disease is early intervention for avoidable challenges with pain drug, antibiotics, folic acid supplements, as well as high drinking of fluids (Fitzhugh, Lauder & Jonassaint, 2010, pp. 36). In the last three decades, development has been attained in many respects: long-standing treatment with hydroxyurea has lowered the frequency of painful crises and enhanced the quality of life of patients with the disease; imaging researches may help in the timely management of serious complications like stroke plus the chest disorder; bone marrow transplantation, though not free of danger and not accessible for all patients may heal the disease; frequent blood transfusion programs linked to iron chelation may stop complications; gene therapy has been performed productively in animal models; however, not tested in clinical trials in human subjects.   Treatment with hydroxyurea has been found effective strategy because it reduces several of the complications associated with the disease (Treadwell, Johnson, & Sisler, 2016, pp. 381). There is proof that neonatal screening for the disorder, when associated with opportune testing, parental education and all-inclusive care, noticeably lowers morbidity, as well as mortality from sickle cell anaemia in infancy along with early childhood. Hence, even efficient care comprising expert counselling as well as access to required care, regardless of patients’ capability to pay, may considerably lower the condition and enhance the quality of lives of individuals living with the disease (Ahn, Li. & Wang, 2005, pp. 184). The disease may be stopped in couples at danger of having kids with the disease through low-cost and dependable blood tests; chronic villus sampling from 9 weeks of pregnancy may be carried for prenatal diagnosis. These measures are in line with the health education. Nonetheless, prenatal diagnosis may result in ethical concerns that vary from one culture to another. In addition, experience has apparently shown that genetic counselling with the proffer of prenatal diagnosis may result in a large-scale decrease in births of affected kids (Hargrave, Wade & Evans, 2003, pp. 846). Conclusions Because sickle cell anaemia is a major public in many nations, there is the need for a comprehensive management and prevention strategy. Currently, many parts of Africa have not received the needed attention towards the management and prevention of the disease. Like many other chronic diseases, enhanced management is likely to fashion an increasing demand for more services to lower incidences of sickle cell anaemia. Systematic collection of information on the cost-effective strategies of treatment and management of the disease must be promoted at the community level (Gupta, Yui & Xu, 2015, pp. 872). Education coupled with surveillance should be provided at the community level via primary healthcare systems that will boot public consciousness of the diseased and elongate the survival of the affected persons. Finally, it should be the role of the government tom develops diagnosis techniques at birth as component of the screening process that will in the management and treatment of the condition. References Ahn, H., Li, C.S. & Wang, W. 2005. “Sickle cell hepatopathy: clinical presentation, treatment, and outcome in pediatric and adult patients”. Pediatr Blood Cancer. 45(3):184. Alexander, N, Higgs, D., Dover, G. & Serjeant, G.R. 2004. “Are there clinical phenotypes of homozygous sickle cell disease?” Br J Haematol. 126(3):606. Anand, K.J., Willson, D.F. & Berger, J. 2015. “Tolerance and withdrawal from prolonged opioid use in critically ill children”. Pediatrics. 125(3):e1208. Dampier, C., Setty, B.N. & Eggleston, B. 2004. “Vaso-occlusion in children with sickle cell disease: clinical characteristics and biologic correlates”. J Pediatr Hematol Oncol, 26 (2):785. Fitzhugh, C.D., Lauder, N. & Jonassaint, J.C. 2010. “Cardiopulmonary complications leading to premature deaths in adult patients with sickle cell disease”. Am J Hematol. 85(2):36. Gupta, S., Yui, J.C. & Xu, D. 2015. “Gout and sickle cell disease: not all pain is sickle cell pain”. Br J Haematol. 171(9):872. Habibi, A., Mekontso-Dessap, A. & Guillaud, C. 2016. “Delayed hemolytic transfusion reactio in adult sickle-cell disease: presentations, outcomes, and treatments of 99 referral center episodes”. Am J Hematol. 91(2):989. Hargrave, D.R., Wade, A. & Evans, J.P. 2003. “Nocturnal oxygen saturation and painful sickle cell crises in children”. Blood. 101(3):846. Jones, S., Duncan, E.R. & Thomas, N. 2005. “Windy weather and low humidity are associated with an increased number of hospital admissions for acute pain and sickle cell disease in an urban environment with a maritime temperate climate”. Br J Haematol. 131(5):530. Naymagon, L., Pendurti, G. & Billett, H.H. 2015. “Acute Splenic Sequestration Crisis in Adult Sickle Cell Disease: A Report of 16 Cases”. Hemoglobin. 39(5):375. Nolan, V.G., Zhang, Y. & Lash T. 2008. “Association between wind speed and the occurrence of sickle cell acute painful episodes: results of a case-crossover study”. Br J Haematol. 143(6):433. Rees, D.C., Williams,T.N. & Gladwin, M.T. 2010. “Sickle-cell disease”. Lancet. 376 (12):2018. Simon, E., Long, B. & Koyfman, A. 2016. “Emergency Medicine Management of Sickle Cell Disease Complications: An Evidence-Based Update”. J Emerg Med. 51(3):370. Smith, W.R., Penberthy,  L.T. & Bovbjerg, V.E. 2008. “Daily assessment of pain in adults with sickle cell disease”. Ann Intern Med 2008; 148(5):94. Treadwell, M., Johnson, S. & Sisler, I. 2016. “Self-efficacy and readiness for transition from pediatric to adult care in sickle cell disease”. Int J Adolesc Med Health. 28 (2):381. Treadwell, M., Telfair, J. & Gibson, R.W. 2011. “Transition from pediatric to adult care in sickle cell disease: establishing evidence-based practice and directions for research”. Am J Hematol, 86(4):116. Yallop, D., Duncan, E.R. & Norris, E. 2007. “The associations between air quality and the number of hospital admissions for acute pain and sickle-cell disease in an urban environment”. Br J Haematol. 136(4):844.

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