Pathophysiological Processes: Sickle Cell Anemia - Coursework Example

Student’s Name: Institution: Date: Sickle cell disease (SCD) is a health state in which pathology is a result of Haemoglobin S (HbS). The homozygous SCD comes as a result of genetic inheritance from parents (Santosh et al., 2013). SC attribute is the carrier state with normal haemoglobin A (HbA) and HbS ( Dewit and Kumagai, 2013; Kaur, Dangi and Singh, 2013; Weatherall, 2013; Nagel, Fabry and Steinberg, 2003). Sickle cell patients (SCPs) do not portray symptoms from their sickle haemoglobin unless they are under unusual state of health (NHS, 2012). In populations of African ethnicity, Sickle cell anaemia (SCA) usually accounts for seventy per cent of cases of SCD with SC trait being second and the combination with thalasaemia is the least common, (Nagel, Fabry and Steinberg, 2003). HbS appears when β-globin gene undergoes the process of mutation in which the seventeenth nucleotide changes from thymine to adenine. Instead of amino acid in the β-globin chain turning to glutamic acid, valine develops (Johnson, 2008). Deoxygenation of erythrocytes causes intracellular haemoglobin polymerization disrupting architecture and flexibility with formation of SC (Noguchi, 2009). The level of HbS polymerization is determined by the degree and the duration of haemoglobin that takes to deoxygenate, the HbS process among different body cells, concentration and the presence of fatal haemoglobin in the erythrocyte, which effectively affects the concentration of HbS. (Santosh et al., 2013; Chikezie, 2011; Idowu Akinsheye et al., 2011). This essay will discuss critically discuss pathophysiological process of SCD, therapeutic and preventive interventions, as their effectiveness beside the complications which may occur in this profile. It also discusses the nursing roles in SCD setting and the possible implication of future practices. The result is two major pathophysiological processes: vaso-occlusion with ischemia-reperfusion injury and haemolytic anaemia (NHLBI, 2002). Acute vaso-occlusive crisis (VOC) results from entrapment of erythrocytes and leucocytes in the microcirculation, obstructing vessels and causing tissue ischemia. There are several factors that particularly trigger vaso-occlusion by sickle erythrocytes. These include precapillary obstruction and deformed erythrocytes with high concentration of HbS polymer content among others (Frenette, 2002; Turhan et al., 2002;Yale, Nagib and Guthrie, 2000). Polymerization of HbS drives the haemolytic process with removal of deformed erythrocytes (NHLBI, 2002). Growth of gradual vasculopathy features systemic and pulmonary hypertension, endothelial failure, proliferative adjustments in the intima (Kato et al., 2009; Kato et al., 2006; Gladwin et al., 2004). Guidelines from the National Heart, Lung and Blood Institute (NHLBI, 2002) manage SCD from four perspectives. This institution starts the process by diagnosing and counselling, and looking at possible health maintenance before treating the acute and chronic complications. This kind of medication consists of evidence with random control trials (RCTs) known as providing the most viable evidence. Protein chromatography and electrophoresis are essential methods in drawing conclusion on Haemoglobin analysis in this particular study. In this case, the use of spectrometry and analysis of deoxyribonucleic acid are on increase (Ryan et al., 2010). To identify couples of high risk of delivering SCA children, some countries use antenatal screening that enables health care providers (HCPs) to offer accurate diagnosis before birth (Quinn et al., 2010; Telfer et al., 2007). HCPs may use genetic counselling throughout the patient’s life. This is also a key factor in prolonging life of SCP. This may involve an open discussion on patterns of inheriting the genes from parents to children (McGann et al., 2013). Advance accessibility to proper health care is a vital aspect in increasing survival rate for SCP. This is due to availability of universal neonatal screening programmes (Rees et al., 2010). Healthcare professionals point out that an aspect of health maintenance and application of preventive measures are critical to those who suffer from SCA. Indeed, advising adult patients to undertake periodic health screening (Hussain et al., 2011). This may include high blood pressure, colorectal cancer, depression and lipid condition among others. Adult patients also require counselling on safe use of tobacco as part of health maintenance programme. Presence of acute pain is the most common factor which makes physicians recommend hospital admission for adults. This also increases mortality rate for SCPs (Kinght-Maddin and Greenough, 2010; Fawibe, 2008). Practice guideline, developed by the American Society for Haematology, addresses pain assessment, treatment of pain and psychological, behavioural, and physical interventions. The policy enables HCPs to address pain assessment and treatment. This also helps in developing physical and psychological interventions (Glassberg, 2011; Lottenberg and Hassell, 2005). In managing severe pain, HCPs apply opiate analgesia. This is the core pillar in pain management; reliable data indicates no additional benefit from non steroid anti-inflammatory drugs (NSAIDs) (Rees et al., 2010). In the past, the use of steroids was common due to its effectiveness in reducing treatment duration. However, the increase in hospital admission has drastically reduced its application, (Glassberg, 2011; Ballas et al., 2010). Inhalation of nitric acid had no considerable sign of improvement in treatment and control of pain, (Al Hajeri et al., 2008). It is important to note that there is no particular treatment identified with the ability to change history of acute pain so far, (Rees et al., 2010). Nevertheless, the surfactant, known as poloxamer 188, has small effect in reducing pain because of its regular use in hospitals by HCPs (Lottenberg and Hassell, 2005). In addition to acute pain, Gladwin and Vichinsky (2008) argued that acute chest syndrome is the second most common cause of hospital admission for those who suffer from SCA. This is a lung injury which arises when unusual alveolar pulmonary infiltrate develops in one segment of the lung. This acute injury occurs due to combination of fat embolism, vaso-occlusion and infection. Severity of acute chest syndrome varies in which thirteen per cent of patients require mechanical ventilation. Small percentage of these cases results to death, (Rees et al, 2010; Lotenberg and hassell, 2005; Boyed et al., 2004). Broad-spectrum antibiotics and oxygen are among the treatment methods that medical practitioners apply, (Parikh et al., 2009). In case of worsening clinical condition of patients, doctor may recommend blood transfusion which is considered ideal when concentration of haemoglobin decreases. llness and mortality in patients result from bacterial infections. This may also be a result of deficiency of micronutrients in the body and impaired splenic function among other health defects. Some of the organisms which cause infection include Streptococcus (S) pneumonia and Haemophilus (H) influenza among other species, (Booth, Obaro and Inusa, 2010). To achieve substantial improvement in prognosis, medical practitioners immunise patients with conjugate vaccines. Besides, they may also administer penicillin prophylaxis. This treatment creates resistance against S pneumonia and H influenza. Meningococcal and hepatitis B are among the ideal vaccines for immunising adult patients with SCA. This is recommendable only when the vaccines have not been administered before to the same patients, (McGann et al., 2013). Stroke may occur in adult whom suffer from SCA. Vasculopathy of middle cerebral arteries among other serious aliment, as cerebrovascular diseases restricted to small vessels. That may go unrecognized but is associated with cognitive and learning issues (Deans et al., 2010; Gebreyohanns and Adams, 2004). This further reduces level of functional nitric oxide affecting blood flow regulation. As a result, the affected person suffers from hyperaemia condition. HCPs use Transcranial Doppler scanning technology to detect vasculopathy condition.. Cases of stroke are relatively low in some countries where physicians use Transcranial Doppler screening regularly. There are considerable chances of stroke to reappear. To combat cases of stroke, HCPs recommend early transfusion programme, (Bernaudin et al., 2011; Al Hajeri et al., 2007; Swerdlow, 2006). SCPs also experience serious complications known as pulmonary hypertension which leads to death. Several studies (Viz Machado and Gladwin, 2010; Bachir et al., 2009; Gladwin and Vichinsky, 2008; Machado et al., 2005) stated that no clear treatment remedy for SCPs with this serious condition. However, identification and treatment of several risk factors which include sleep apnoea, left ventricular systolic, severe anaemia, restrictive lung ailment and iron overload among others. Regular transfusion and hydroxycarbamide are among the treatment options that HCPs recommend. This is done when there is no notable positive response from the SCPs. Those with idiopathic pulmonary hypertension may receive treatment through endothelia receptors and prostaglandin therapy. Polymerisation of HbS in renal medulla is common when factors such as low oxygen pressure, low level of pH and low osmolality causing dehydration of erythrocyte. This complication appears in different forms such as proteinuria, extreme anaemic condition and nephritic syndrome among others, (Janet et al., 2012; Abdu et al., 2011). Chronic renal failure affects one third of adult patients leading to increase mortality rate, (Rees et al, 2010). The use of hydrocarbamide among other drugs at an early stage is among the recommended treatment especially in underage patients with albuminuria condition. RCTs are known for reducing extreme levels of albuminuria and other related abnormal conditions. Similar results have been reported with captopril, (Lottenberg, Hassell, 2005; Fitzhugh et al., 2005). SCA has no organised trials especially in the case of safe contraception. However, case series studies indicate no detrimental effects, a use of oral contraception, and other popular contraceptive methods that are acceptable for patients with SCA (Bonnema, 2010). Some of the notable effects of SCA in pregnant women include pre-aclampsia, relatively low birth-weight and pre-term labour pains. RCTs with prophylactic transfusion have shown difference in obstetric or perinatal effects. However, it reduces episodes of pain in SCPs (Padron et al., 2012; Al Jama et al., 2009). Duping in sickle-like cells in the corpora causes priapism in SCA. This condition appears as recurring episodes which last up to four hours. In case of the episode prolonging beyond four hours, there is a high risk of impotence or corporeal fibrosis. To stop the episode from prolonging, some scholars have recommend hydration and alkalisation of urine. Although no clinical trial has ever evaluated this treatment, surgical intervention is deemed to be ideal for preventing this possible eventuality, (Hunt and Alisky, 2013; Field et al., 2010). Oral Hydroxycarbamide is effective in which it has low toxicity and it is well-tolerated. Other benefits include raising the concentration of haemoglobin in the blood and reducing the level of white blood cells leading to adjust the appearance of adhesion molecules, (Rees, 2011; Carton and Elion, 2008). Large RCTs have demonstrated a use of Hydroxycarbamide which reduces effects such as episodes of pain and critical chest syndrome, need for blood transfusion. Consequently, SCPs may not need hospital admission since the condition is put under control, (Hunt and Alisky, 2013; Ballas et al., 2010; Tamim, 2006). Increasing life expectancy, protection against cerebrovascular ailment and low hypoxaemia are among other benefits. However, guidelines recommend the use of hydroxycarbamide only after severe clinical course. This prevents the possible risk of toxicity (NHS, 2013, Ware, 2011; Segal et al., 2008). Eckman (2001) supports that use of Erythrocyte transfusion is central to management of SCA including controlling acute and chronic complications in SCA. This reduces level of HbS and supresses its synthesis causing decrease in haemolysis. It may take a form of exchange transfusion or simple additive whichever applicable. When dealing with neurological symptoms, blood exchange is recommended. This decreases the level of HbS rapidly without increasing viscosity of blood. Iron chelation with desferrioxamine is important in patients with chronic transfusion to avoid liver damage where excess iron is deposited in SCPs. Allo-immunization occurs in 30% of patients with frequent transfusions; therefore the need for extensive matching of blood is a must (Chou et al., 2013; Ware and Helms 2012 ; Markham, Lottenberg and Zumberg, 2003). In fact, SCA is cured through Hematopoietic stem cell transplantation (HSCT). However, this treatment is ideal when dealing with patients especially with HLA-compatible siblings. The procedure proves to be safest in such cases. This is essential when a serious complication occurs with patients who purely depend on transfusion. Gene therapy offers promise with several clinical trials using Lent viral mediated gene transfer. Use of induced pluripotent stem cells is part of future developments. This is the source of haemopoietic progenitors for this particular therapy, (Shenoy , 2011; Rees et al., 2010). Howard et al. (2010) pointed out that application of preoperative transfusion causes fewer complications in SCPs. Traditionally this has been done through hydration and aggressive transfusion to achieve haematocrit of 35% to 40% and normal haemoglobin of 50% to 70% (Heidi, 2001). Post operative procedures focused on pain management using opiates, supplemental oxygen and fluid management. SCA poses complex challenges to families of adult patients partly due to presence of chronic ailment and the recurrent experiences of diseases. The disease presents cognitive challenge to the family in that they have to learn the entire process of the disease, the aetiology and prognosis as well as the ideal treatment. It also presents emotional challenge in which the family bears with the worries and uncertainties which come from the illness (Adegoke and Kuteyi, 2012). SCPs frequently live with excessive level of anxiety, depression, social withdrawal, anger, relationship challenges and low performance at school or work. The family is also challenged behaviourally in that it incorporates the cure regimen into the family program while maintaining other core duties. All of that impact negatively on their quality of life (QOL).Therefore, the psychological intervention is necessary when managing SCA. Comprehensive health maintenance consists of both primary and preventive care. This is the best way of providing medical care to patients. Relevant therapy is also ideal in curbing and controlling both acute and chronic manifestation of SCD. The nurse plays a central role in managing SCPs in both emergency situation and long-term care. This includes offering progressive education concerning the ailment at hand, a holistic assessment when consider patient centre approach, ensuring that preventive care and management are always observed and recognising and managing the acute infections. Nurse also coordinates and integrates subspecialty care on timely basis. In Emergency Department and Inpatient Setting, nursing roles include different interventions starting by observing closely the colour, respiratory symptoms and increased oxygen demand in patients (Pulse oxymetry). Furthermore, history of signs and symptoms, evaluation of mental status, depression and suicidal tendencies must be checked and undertaken by nurses who ensure that patient’s condition stabilises as soon as possible. Additionally, obtaining complete nursing record of the patient such as past and current prescription, therapies, exposure to ailments and infections are also part of the vital role of them. This enables HCPs handling the case easily to get the background information about the patient. (Aske et al., 2012; IASCNAPA, 2008; McCabe, 2004). Moreover, physical examination including chest, abdomen and extremities for bone and joint pains are also necessary especially in emergency cases. The nurse is able to ascertain the extent of the infection, as handle any other ailments associated with SCA. This ensures that physician is sure of what to give as a first priority in order to save life. In this case, administration of specific interventions including pain medication and antibiotics is done. Furthermore, re-evaluation of the patients after every fifteen to thirty minutes and communication with the rest of the team is also a nursing role in both emergency and inpatient condition. This exercise enables the medical team handling the case to know whether there is improvement or not. In addition, nursing role is also essential in outpatient setting, although it is slightly different from the first case. Including but not limited to assessment and evaluation the vital signs and developmental milestones in SCPs. This is where the nurse compares the condition of the patient in intervals to know whether there is improvement or not. If there are no signs of improvement, attention of the team may be demanded depending on actual situation of the case, ( deWit and Kumagai, 2013; IASCNAPA, 2008; SCAC, 2002). During the early stages of treatment, the nurse may want to know patient’s behaviour, life style and any alternative medication previously administered. Family knowledge of the disease is also part of nursing concern. The nurse does this during the out-patient clinics to ensure that the ailment is put under proper medication. It also enables the nurse to make useful referral especially when the patient is in need of counselling. The patient is also taken through counselling on avoidance of crisis precipitating factors. When this is done at the right time, it becomes easy for the HCPs to manage SCD. Then, the patient becomes fully aware of his medical situation to take health precautions (Askew et al., 2012; SCAC, 2002). The patient and the nurse discuss on the matter of the suitable behaviour in such condition. This may include encouraging patients to participate in relevant groups available in the community. This includes providing a link between health care setting and community support. Referral systems available in the community are also discussed. The nurse provides relevant assistance to families living with SCP in the process of transition from paediatric care to adult medicine. This is a vital role since members of the family are able to appreciate the patient and to give every social support necessary during the process of medication, (Roberts, 2007). Community-based services allow patients to take control of their health conditions through enabling them to be at home most of the time instead of staying in the hospital. This gives them a chance to address their social needs such as education and employment opportunities. Consequently, cost of treatment reduces to a manageable level. The Nurse provides the interface between community-based care and hospital care which include continuous education on health seeking behaviour, steps to follow in case of an emergency, assessment of emergency preparedness and long-term clinic follow up schedule (Roberts, 2007). SCA is attracting increasing interest in medical and academic fronts. There is significant progress in research particularly in pathogenesis and chronic disease. Progress has also been made in understanding of its manifestations as well as the genetic and biological basis for the enormous variability in phenotypic expression of the disease. Studies indicate growth in collaboration between developing and developed countries in SC research. This is considered as a vital step in improving clinical and diagnostic facilities. Future medical practice should address several challenges which include inadequate medical facilities, unequal access to health-care, creating awareness for SCD and establishment of clinical network that suits local needs. By addressing these issues, the community may realise affordable screening programs vital for early identification. This is possible when there is collaboration between all countries, (IASCNAPA, 2008; Roberts, 2007). In conclusion, people need to be aware of pathophysiology of SCA and how to manage the disease. Survival of SCPs is improved by the use of effective interventions. Morbidity and mortality of SCPs can be prevented by adhering to simple steps such as early preventive measures, awareness on complications and advance screening especially to new-born babies. HCPs should pay high attention on management of ailment in teenagers and adults, as addressing patient’s QOL. To make the disease more manageable and to prevent adverse implications, HCPs should use current evident and therapeutic options available. This makes treatment of SCD more aggressive especially in early stage. Early diagnosis is essential in dealing with SCD properly. Young people who are single ought to get information on how the disease is inherited from parents and how to prevent the same. This enables them to prepare for the future especially to ensure that they consult HCPs for diagnosis before marriage. This ensures that people are aware of consequences of SCD. When this is done continuously, prevention and control of SCD becomes easier. References Burlew K, Evans R. Oler C. 1998. 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Biotech (70) Review Paper: An overview on Sickle Cell Disease Profile Kaur M.,1* Dangi C.B.S.1 and Singh M. Blood Rev. 2003 Sep;17(3):167-78. The paradox of hemoglobin SC disease. Nagel RL, Fabry ME, Steinberg MH Fetal hemoglobin in sickle cell anemia 1. Idowu Akinsheye1,*, 2. Abdulrahman Alsultan2,*, 3. Nadia Solovieff3,*, 4. Duyen Ngo1, 5. Clinton T. Baldwin1, 6. Paola Sebastiani3, 7. David H. K. Chui1, and 8. Martin H. Steinberg1 +Author Affiliations 1. 1Department of Medicine, Boston University School of Medicine, Boston, MA; 2. 2Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; and 3. 3Department of Biostatistics, Boston University School of Public Health, Boston, MA Blood July 7, 2011 vol. 118 no. 1 19-27 Pharmacogn Mag. 2011 Apr;7(26):126-32. doi: 10.4103/0973-1296.80670. Sodium metabisulfite-induced polymerization of sickle cell hemoglobin incubated in the extracts of three medicinal plants (Anacardium occidentale, Psidium guajava, and Terminalia catappa). Chikezie PC. Paediatric Respiratory Reviews Available online 15 November 2013 In Press, Corrected Proof — Note to users Mini-Symposium: Controversies in the Evaluation and Treatment of Sickle Cell Disease Differences in the clinical and genotypic presentation of sickle cell disease around the world ☆ ☆☆ ★ Santosh L. Saraf1, , , Robert E. Molokie1, 2, Mehdi Nouraie3, Craig A. Sable4, Lori Luchtman-Jones5, Gregory J. Ensing6, Andrew D. Campbell7, Sohail R. Rana8, Xiao M. Niu3, Roberto F. Machado9, Mark T. Gladwin10, Victor R. Gordeuk1 Adults with Sickle Cell Disease: An Interdisciplinary Approach To Home Care and Self-Care Management With a Case Study  Home Healthcare Nurse, March 2012 Expires: 3/31/2014 CE Collection | Go to CE Details Adults with Sickle Cell Disease: An Interdisciplinary Approach To Home Care and Self-Care Management With a Case Study Lishia Lee RN, MSN Rebecca Askew PhD, RN Jean Walker PhD, RN Jennifer Stephen RN, MSN Amy Robertson-Artwork BA, MSIT Home Healthcare Nurse March 2012 Volume 30  Number 3  Pages 172 - 183 http://www.iascnapa.org/guidelines/Guidelines_ACS.pdf How I use hydroxyurea to treat young patients with sickle cell anemia 1. Russell E. 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