Analysis of Sickle Cell Disease

• Safiullah Barat & Melissa Parker

Canada is becoming more multicultural as individuals from developing countries are making Canada their home. 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.

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.

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).

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).

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).

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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).

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).

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).

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).

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).

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).

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).

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.

References

Addis, G. (2010). Sickle cell disease, part 1: understanding the condition. British Journal Of School Nursing, 5(5), 231-234.

Brown, M. (2012). Managing the acutely ill adult with sickle cell disease.British Journal Of Nursing,21(2), 90-96.

Lanzkron, S., Carroll, C., & Haywood Jr., C. (2013). Mortality Rates and Age at Death from Sickle Cell Disease: U.S., 1979-2005. Public Health Reports, 128(2), 110-116.

Lewis, S. M. (2010). Medical-surgical nursing in Canada: assessment and management of clinical problems (2nd Canadian ed.). Toronto: Mosby Elsevier Canada.

Memish, Z., & Saeedi, M. (2011). Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and [beta]-thalassemia in Saudi Arabia. Annals Of Saudi Medicine, 31(3), 229-235. doi:10.4103/0256-4947.81527

Miller, Andrew C., and Mark T. Gladwin. (2012) “Pulmonary Complications of Sickle Cell Disease.”American Journal of Respiratory and Critical Care Medicine185.11 (2012): 1154-65..

Miller, J. L., & Meier, E. (2012). Sickle Cell Disease in Children. Drugs, 72(7), 895-906. doi:10.2165/11632890-000000000-00000

Musumadi, L., Westerdale, N., & Appleby, H. (2012). An overview of the effects of sickle cell disease in adolescents. Nursing Standard, 26(26), 35-40

Neglected conditions. (2014). Canadian Medical Association.Journal, 186(6), 452-453.

Newborn Screening Ontario. (2013). Newborn screening manual: a guide for newborn care providers. Retrieved from http://www.newbornscreening.on.ca/data/1/rec_docs/795_CHO0093-NSM-Web.pdf

Pack-Mabien, A., & Haynes, J. r. (2009). A primary care provider’s guide to preventive and acute care management of adults and children with sickle cell disease. Journal Of The American Academy Of Nurse Practitioners, 21(5), 250-257. doi:10.1111/j.1745-7599.2009.00401.x

Randolph, T. R., & Wheelhouse, J. (2012). Novel test method (sickle confirm) to differentiate sickle cell anemia from sickle cell trait for potential use in developing countries. Clinical Laboratory Science, 25(1), 26-34.

Registered Nurses’ Association of Ontario. (2013). Nursing Best Practice Guidelines: Assessment and Management of Pain. Retrieved from http://rnao.ca/

Registered Nurses’ Association of Ontario. (2007). Nursing Best Practice Guidelines: Professionalism in Nursing. Retrieved from http://rnao.ca

Sickle Cell Disease Association (2013). Reterieved from http://www.sicklecelldisease.ca/

Smith, W. R., Ballas, S. K., McCarthy, W. F., Bauserman, R. L., Swerdlow, P. S., Steinberg, M. H., & Waclawiw, M. A. (2011). The Association Between Hydroxyurea Treatment and Pain Intensity, Analgesic Use, and Utilization in Ambulatory Sickle Cell Anemia Patients. Pain Medicine, 12(5), 697-705. doi:10.1111/j.1526-4637.2011.01096.x

Tortora, G. J., & Derrickson, B. (2012). ANS Neurotransmitters and Receptors. Anatomy & Physiology: Princples of Anatomy. Danvers, MA: JOHN WILEY.