Primary Diagnosis of Sickle Cell Disease Essay

The case should be an unusual diagnosis, or a complex case that required in-depth evaluation on the student’s part.

The case should be posted in the SOAP format, with references for the patient diagnosis, differential diagnoses (there should be at least 3), and the treatment plan.

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The posting does not have to be written in APA format, but should be written with correct spelling and grammar. References should be in APA format. The selected references should reflect current evidence – dated within the past 5 years.Primary Diagnosis of Sickle Cell Disease Essay

Diagnosis
• Primary Diagnosis-
 Evidence for primary diagnosis should be documented in your Subjective and
Objective exams.

o Differential Diagnoses- Include three diagnoses

PLAN including education
o Plan:
 Further testing
 Medication
 Education
 Non-medication treatments
• Referrals
 Follow-up visits

Safiullah Barat & Melissa Parker
Canada is becoming more multicultural as individuals from developing countries are making Canada their home.Primary Diagnosis of Sickle Cell Disease Essay  As the rate of immigrants in Canada is rising, diseases that were uncommon are becoming more prevalent. For instance, disorders such as sickle cell disease are increasing in all regions in Canada (Neglected Conditions, 2014). Sickle cell disease is genetic disorder that causes undesired effects which decreases an individual’s quality of life. The purpose of this paper is to analyze the pathophysiology of sickle cell disease, and to research evidence based practice such as management and prevention measures. To begin, a brief explanation of the search strategy used will be discussed, followed by details on the epidemiology of sickle cell disease. Furthermore, aspects of the disorder will be discussed in the following order: risk factors, clinical manifestations, diagnostic tests, complications, evidence based treatment, and different levels of preventive measures. According to RNAO, “knowledge provides the basis for professional practice and, is a central aspect of professionalism” (Professionalism in nursing, pg. 28). It is evident that nurses need to critically analyze disorders, such as sickle cell disease, in order to apply and provide competent care.Primary Diagnosis of Sickle Cell Disease Essay

Search Strategy

To help retrieve the most up to date, recent and peer reviewed articles, different search strategies have been used. Nursing databases such as ProQuest, CINHAL and MEDLINE were used to find the appropriate journal articles. After doing so, search limiters were used to narrow down the search. Peer reviewed, full text and published dates set from 2009 to 2014 were selected, as well as the availability of references was included. Boolean operators, “and” and “or”, were commonly used ; furthermore, search term “sickle cell disease” and Boolean phrases including “complications”, “treatment”, “diagnostic test”, “pediatrics”, “prevention”, “etiology”, and “Canada” were combined to narrow the search.Primary Diagnosis of Sickle Cell Disease Essay

Epidemiology

Sickle cell disease is prevalent in areas where malaria is common. This includes area such as the Caribbean, Nigeria, Middle East, Mediterranean, Indian sub-continent, Greek, Turkey, India, Pakistan, Ghana, and Far East China (Brown, M. 2012). A study conducted by Lanzkron et al (2013) took a look at mortality rates with individuals who had sickle cell disease over a time frame of thirty years. Over the course of thirty years, 16, 654 sickle cell-related deaths had occurred with a mortality rate of 0.7% each year (Lanzkron et al, 2013). In Canada, one in every 2500 babies will be born with sickle cell disease, and have a one in four chance (25%) of having sickle cell disease. Furthermore, they have a one in two chance (50%) of being a carrier for sickle cell disease (Sickle Cell Disease Association of Canada, 2013).Primary Diagnosis of Sickle Cell Disease Essay

Etiology/Risk Factors

Sickle cell disease is an inherited autosomal recessive condition that causes an abnormal formation of hemoglobin. Different types of sickle cell disease includes sickle cell anemia (HbSS), sickle hemoglobin-c disease (HbSC), and sickle cell thalassemia (HbS) ( Brown, M. 2012).However, the most common is sickle cell anemia (Lewis, 2014). This inheritance occurs when both the mother and father pass on the defective gene to their child (Brown, M. 2012). Therefore, being a carrier of the sickle cell trail is a major risk factor. Individuals have an increased risk of developing sickle cell disease if residing in areas where malaria is endemic. Sickle cell disease puts individuals at risk whose ancestors came from West Africa, southern Italy, northern Greece, South and Central America, Middle East, Central India, southeast coast of Turkey and Mediterranean in Sicily (Pack-Mabian, A & Haynes, J.r. 2009).Primary Diagnosis of Sickle Cell Disease Essay

Clinical Manifestations

Although, each individual will display different signs and symptoms of sickle cell disease, they all display one similar characteristic: when exposed to factors that decrease oxygen, the hemoglobin forms into a sickle-shaped red blood cell which blocks the flow of blood. As a result, clinical manifestations often show anemia, jaundice and severe pain (Addis, G. 2010). Often, patients are asymptomatic except when experiencing a sickling episode (Lewis, 2014).Primary Diagnosis of Sickle Cell Disease Essay

An individual with sickle cell disease may develop anemia due to the complete destruction of red blood cells or hemolysis (Addis, G. 2010). Normally, red blood cells live for 120 days in our body but sickle cells usually die within ten to twenty days (Addis, G. 2010). As a result, the body’s organs are not receiving enough oxygen. The body compensates as it increase heart rate, increase blood pressure to allow the oxygenated hemoglobin to reach the necessary organs. Furthermore, individuals will display signs and symptoms of SNS or fight or flight response. Increase pupil dilation, diaphoresis and tachypnea are evident in patients with sickle cell crisis (Tortora & Derrickson, 2012).

In addition, the constant breakdown of hemoglobin produces bilirubin, a byproduct of hemoglobin, which cannot be processed by the liver. As a result, the bilirubin gets stored in the blood and connective tissue which results in yellowing of the eyes and the skin (Addis, G. 2010).

However, the most common manifestation individuals with sickle cell disease experience are pain as a result of vaso-occlusive crises, also known as sickle cell crisis. Pain related to sickle cell disease accounts for ninety percent of hospital admissions (Musumadi, L. et al. 2012). This is mainly due to episodes of sickling that prevents oxygenated blood reaching organs, which results in ischemia and gradual deterioration of tissue and organ function (Musumadi, L. et al., 2012).Primary Diagnosis of Sickle Cell Disease Essay

Diagnostic Tests

Diagnostic tests to diagnose sickle cell disease involve blood work. Often, individuals who have sickle cell disease are best diagnosed with the use of a peripheral blood smear test which reveals sickle cells (Lewis, 2014). In addition, sickle hemoglobin tests involve taking red blood cells, and expose them to factors that deoxygenate the blood, and determines if there is hemolysis (Lewis, 2014). Furthermore, a test known as the hemoglobin electrophoresis helps to differentiate sickle cell trait between sickle cell disease. It works by identifying various types of hemoglobin within a blood specimen to confirm the diagnosis of sickle cell disease (Randolph & Wheelhouse, 2012).

Additionally, secondary diagnostic tests could be used to diagnose complications that arise with sickle cell disease. Individuals may require a chest x-ray, skeletal x-ray, magnetic resonance imaging (MRI), and a Doppler ultrasound (Lewis, 2014). Skeletal x-rays are used to determine bone and joint deformities whereas chest x-rays are used to diagnose chest infection (pneumonia). MRIs are used to aid in the diagnosis of a stroke caused by blocked blood vessels from sickled cells Likewise, a Doppler ultrasound may be used to diagnose deep vein thrombosis (DVT) (Lewis, 2014).Primary Diagnosis of Sickle Cell Disease Essay

Course of the disease and complications

Sickle cell disease causes a wide range of complications that begin at infancy and worsen with age when not controlled. Complications develop when sickling episodes causes vaso-occlusion which leads infarction of body tissues and organs (Lewis et al., 2010), and with increasing age, causes end-organ complications (Miller & Meier, 2012). At age 2, children begin to experience dactylitis, pain in small bones of hands and feet (Miller & Meier, 2012). Vaso-occlusive pain involving the back, chest, abdomen, or extremities continues to occur throughout the lifespan of an individual with sickle-cell disease (Pack-Mabien, 2009). Furthermore, both pediatrics and adults encounter the difficulty of anemia as it leads to other complications such as bone marrow suppression, renal insufficiency, and splenic or hepatic sequestration (Pack-Mabien, 2009). The infarction of the spleen can begin in infancy and causes another major complication: infection. The dysfunction of the spleen and its inability to phagocytize foreign objects can cause major infection in both children and adults “and is the leading cause of morbidity and mortality in patients with sickle cell disease” (Miller & Meier, 2012). Additionally, sickling episodes can affect the pulmonary system in all affected age groups and causes acute chest syndrome, a disorder that includes pulmonary complications such as pneumonia, fat embolism, systemic infection, pulmonary infarction, and if not treated, can lead to respiratory failure (Miller & Andrew, 2012). Unfortunately, children and adults are also at risk for stroke due to cerebral infarction (Miller & Meier, 2012). Other complications include gallstones, kidney failure, priapism or involuntary erection, delayed sexual development, delayed growth, bone necrosis, and leg ulcers (Brown, M. 2012).Primary Diagnosis of Sickle Cell Disease Essay

Treatments

The treatment of sickle cell disease involves the reduction of symptoms and complications. Treatment includes pain management involving opioid or non-opioid analgesics, anti-inflammatory drugs, and NSAIDS (Addis, 2010). Also, cognitive behavioural therapy and non-pharmacological approaches can benefit patients with chronic or acute pain (Addis, 2010). Another treatment includes RBC transfusion and is required “as an emergency measure or to prevent short or long-term complications.” (Addis, 2010). Furthermore, a medication called hydroxyurea is a major advancement in the management of sickle cell disease and is available in Canada (Canadian Association of Sickle cell…). Hydroxyurea increases the level of fetal hemoglobin that results in an overall decrease in circulating sickle cells (Smith et al., 2011). A clinical study conducted by Smith et al (2011), has proven a decrease in pain intensity in patients undergoing hydroxyurea therapy, as well as a decrease in analgesic use and a significantly lower reduction in crisis and mortality. Moreover, multiple studies have shown bone marrow transplant as a potential cure of sickle cell disease; however, further studies are needed for this treatment to be recommended as a standard treatment for sickle cell disease (Thompson, 2012).Primary Diagnosis of Sickle Cell Disease Essay

Preventive Measures

Primary Preventive Measures

Although genetic risk factors are non-modifiable, there is a preventive measure for sickle cell disease: genetic counselling. Genetic counselling should be encouraged in patients with the sickle cell trait especially when planning to have a child. This preventive measure helps patients understand and adapt to the implications of genetic contributions to the disease and offers “counselling to promote informed choices and adaptation to the risk or condition” (Lewis, 2014. p. 787). A 6-year study in Saudi Arabia, a country of high prevalence of sickle cell disease, showed a significant decrease in the genetic disease through the use a genetic counselling program as it decreased the number of at-risk marriages (Memish, 2011).Primary Diagnosis of Sickle Cell Disease Essay

Secondary Preventive Measures

Prevention measures in the secondary level focuses on diagnostic tests and screening for sickle cell disease. Newborn screening is the earliest way to detect whether the child has sickle cell disease in time to prevent serious complications from occurring (Newborn Screening Ontario, 2013). According to the Newborn Screening Ontario (2013), newborn screening can prevent “infection and sepsis, growth delay, painful sickle crisis, tissue ischemia and organ damage.”

Secondary preventive measures also involve previously stated diagnostic testing for complications such MRI for stroke, the use of x-rays for chest infections, etc. Also, pain is a major complication in both adults and pediatrics and should be diagnosed; however, it is challenging to detect pain in unresponsive clients such as neonates. Registered Nurses Association of Ontario recommends the use of a validated pain assessment tool for neonates called Neonatal Infant Pain Scale (NIPS) due its evidence of reliability and validity. This tool includes components such as facial express, cry, breathing patterns, arms, legs, and state of arousal component (Assessment and Management of Pain, 2013).Primary Diagnosis of Sickle Cell Disease Essay

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Tertiary Preventive Measures

Tertiary preventive measures involve treatments that aid in regaining patient’s functional ability and the elimination of the disease. For individuals with sickle cell disease, preventive measures at this level include medical interventions to prevent and control symptoms and complications. For example, interventions are pain management, hydroxyurea, and transfusion therapies as mentioned earlier. Furthermore, penicillin can be given to children starting at 2 months of age, and vaccinations against pneumococcal infections, flu, meningitis, and hepatitis are important to prevent infections and early death (Addis, 2010).Primary Diagnosis of Sickle Cell Disease Essay

Conclusion

In conclusion, sickle cell disease is one that affects the quality of life of affected individuals. The analysis focused on different aspects of sickle cell disease such as the epidemiology in which prevalence is high in areas where Malaria is predominant. Also, due to increasing immigration, the incidence of the disease is increasing in Canada. Furthermore, known risk factors have been identified such as genetic and environmental factors. In addition, the main clinical symptoms with sickle cell disease include pain as well as symptoms of anemia. Furthermore, a variety of tests which include blood work are the determinants of the presence of sickle cell disease. Sickle cell disease potentiates of a variety of complications, most commonly vaso-occlusive pain, acute chest syndrome, anemia and other major organ complications. Unfortunately, treatment only aids in controlling the complications and does not provide a cure for the disease. It is evident that the need for further research in stem cell transplant as a potential cure is highly needed. Lastly, genetic counseling, neonatal screening, diagnostic tests, and current evidence based treatment such as pain management, hydroxyuria and transfusion therapy, are all preventive measures of symptoms and complications of the disease. The findings in this analysis are significant for nurses to apply when having encountered a patient with sickle cell disease. Certainly, it is important for nurses to acknowledge the increasing diversity in Canada and to continue competency by constantly seeking new pertinent information to apply to everyday practice.Primary Diagnosis of Sickle Cell Disease Essay

Causes of Sickle Cell Disease
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Sickle cell anemia is a disorder affecting red blood cells, the cells that carry oxygen from the lungs to tissues throughout the body.

Normally, red blood cells are flexible discs that glide smoothly through the blood vessels. In people with sickle cell anemia, these blood cells are stiff and sickle- or crescent-shaped. Because of their stiffness, these abnormal red blood cells may get stuck inside small blood vessels. This can cause episodes of pain, known as pain crises. The sickle cells can also cause other symptoms, such as swelling of the hands or feet, and they can damage organs.

Red blood cells in sickle cell anemia die more quickly than their normal counterparts. The normal lifespan of healthy red blood cells is around 120 days, while the red blood cells of sickle cell anemia patients typically live for about 10 to 20 days. This results in a red blood cell deficiency known as anemia. People with anemia may get tired easily because they have fewer red blood cells delivering oxygen throughout the body.Primary Diagnosis of Sickle Cell Disease Essay

A genetic disease
Sickle cell anemia results from a mutation in a gene called HBB, which contains the blueprint for cells to make part of a protein called hemoglobin. The hemoglobin protein is made up of two alpha chains and two beta chains. Each chain includes an iron-containing “heme” portion. The iron gives red blood cells their color. It also allows the hemoglobin molecule to bind to and then release oxygen molecules.

The mutation in the HBB gene in sickle cell anemia changes one of the amino acids, the building blocks of proteins, in the beta chain of hemoglobin. This defect causes the hemoglobin protein to stick together and form stiff fibers. These fibers distort the shape of the red blood cells and make them more fragile.

The hemoglobin in sickle cell anemia patients is called hemoglobin S, whereas those unaffected by the disease have the hemoglobin A form of the molecule.Primary Diagnosis of Sickle Cell Disease Essay

Inheritance
Sickle cell anemia is inherited in an autosomal recessive manner. This means that the disease develops when someone receives two copies of the mutated HBB gene: one from the mother and one from the father. A person with just one copy of the mutated gene is said to have the sickle cell trait. Although they are a carrier of the disease, these people generally do not display any symptoms but can pass the disease to their children.

Sickle cell anemia is more common among people of certain ancestries, including those of African, Caribbean, Middle Eastern, Eastern Mediterranean, and Asian descent. Primary Diagnosis of Sickle Cell Disease Essay