Case Study 1 – Sickle Cell Disease Assessment

Case Study 1 – Sickle Cell Disease Assessment

Case Study 1 – Sickle Cell Disease Assessment

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Case Study 1  Marsha and Clement are both carriers of sickle cell disease, a disease that is autosomal recessive. Their first child, Amelia, does not have the disease. Marsha and Clement are planning another pregnancy, but they are concerned about their second child having the condition. Clement’s dad died from complications of sickle cell disease shortly before Amelia was born.  1.Draw a Punnett square to determine the likelihood of Marsha and Clement having a baby with sickle cell disease. What is the chance the baby will be a carrier of the disease, just like the parents? 2.Marsha suggested to the nurse at the local family planning clinic that if the baby were a boy he might have a higher risk for developing the disease, just like his grandfather. If you were this Practitioner, how would you respond? 3.When Amelia, who does not have sickle cell disease, grows up and marries someone who does have the disease, how likely is it that her children will have the disease?

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 psychophysiology 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 lysosomal 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 Tallahassee (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.Analysis of Sickle Cell Disease Assignment Case Study Paper 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).

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 (). 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). Case Study 1 – Sickle Cell Disease Assessment.

 

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