Reference no: EM133498525
Assignment: Sickle Cell Disease Presentation
Description
A. Connect your case discussion back to the patient you have presented. Example, if your patient has HTN and DM, be sure to include a discussion of the symptoms that your patient is exhibiting and discuss treatments specifically aimed for your patient.
B. Support your case discussion with current (in the past 5 years) high level evidence. Patient information portals, disease association websites and other resources such as Up-to-date, Epocrates, Medscape, Mayo Clinic are not considered high levels of evidence and should be avoided for your presentations. While use of the course textbooks is permitted, a minimum of 3 high level citations outside of the course texts is required. If you are unclear about what is considered high level evidence, review content from your Evidence Based Nursing Practice Course
C. Include some graphics to support your presentation and to make it more visually engaging
D. The discussion of the case progression and pathophysiology is typically 2-3 slides (including title and reference slides), APA formatting for your presentation is required. (Include script on each slides)
Introduction
A 25-year-old man presented to the clinic having recurrent attacks of excruciating pain, exhaustion, and shortness of breath. He also added that he frequently felt pain and experienced swelling around his joints. He has a medical history of sickle cell disease which was identified as the cause of repeated episodes of pain and infections during his infancy. Since his diagnosis, he has been treated by a hematologist and has been controlling the disease with medications and attending routine checkups. He has also undergone a splenectomy due to frequent episodes of splenic sequestration. There is a confirmed history of sickle cell disease in the family. The older sister of the patient also suffers from the same condition. His parents are sickle cell trait carriers. The patient had been using hydroxyurea medication. On examination, the patient seemed exhausted and had mild pallor. All the vital signs were within the normal ranges. The patient displayed mild ankle and knee swelling as well as joint tenderness.
Overview and Risk Factors
Sickle cell disease is a hereditary condition in which there is a particular mutation that affects the hemoglobin protein in red blood cells. The beta hemoglobin chains present on chromosome 11 are the site of mutation that causes the disease. The mutation causes valine amino acid to replace glutamic acid at the sixth position of the hemoglobin beta chain. This causes the formation of hemoglobin S. Red blood cells lose their normal biconcave disc shape and become rigid due to the abnormal hemoglobin, taking the shape of a sickle. Small blood vessels are easily clogged by these sickle cells which can then result in a number of complications (Kavanagh et al., 2022).
The first risk factor in sickle cell disease is genetic inheritance. It is an autosomal recessive condition that happens when a person receives two abnormal hemoglobin genes from their parents, one from each. A person will have sickle cell trait if they inherit one healthy hemoglobin gene and one unhealthy gene. The second risk factor is ethnicity. People of African, Mediterranean, Middle Eastern, and South Asian descent are more likely to have sickle cell disease.
The HbS molecules have a tendency to polymerize under specific circumstances such as low oxygen levels, dehydration, or increased acidity, resulting in red blood cells that rigidify and take on a sickle shape. Anemia results from these sickled red blood cells as they are less adaptable and have a reduced life span as compared to healthy red blood cells. The most common and defining symptom of sickle cell disease is vasoocclusive crisis (Darbari et al., 2020). These crises are brought on by the blockage of small blood vessels by sickled red blood cells which causes tissue ischemia and excruciating pain. Bones, joints, the chest, and the abdomen are just a few body parts that can experience pain crises. The pain may be abrupt in onset, extremely severe, and last for days. When vasoocclusive crises affect the chest it causes acute chest syndrome characterized by hotness of the body, cough, and chest pain.
Aplastic crisis is a transient decline in the bone marrow's ability to produce red blood cells. Infections like parvovirus B19, which preferentially infects and kills the red blood cell precursors can cause it to manifest. Splenic sequestration crisis happens when a significant amount of blood gets trapped in the spleen causing the organ to suddenly enlarge and the red blood cell counts to drop quickly. Hemolytic crisis occurs when the breakdown of red blood cells increases suddenly. Transient ischemic stroke is a serious complication of sickle cell disease especially in children. Sickled red blood cells can cause a blockage of blood vessels supplying nutrients and oxygen to the brain (Alakbarzade et al., 2022).
Sickle cell disease is a disorder that poses serious health risks, but it is also a case of genetic adaptation. In some populations, particularly those with a history of malaria, the sickle cell hemoglobin gene has persisted. Malaria resistance is higher in people with sickle cell trait because malaria parasites are less likely to thrive in red blood cells that contain some sickled hemoglobin. In areas where malaria is or was historically prevalent, this adaptive advantage has contributed to a higher prevalence of sickle cell trait (Mwaiswelo et al., 2020).