The Importance of Early Diagnosis with Sickle Cell Disease FINAL

Marie HunterInstructor SherbondyENG 11118 Oct 2019The Importance of Early Diagnosis with Sickle Cell Disease Over the years, my family has regularly donated to a variety of blood organizations, such as The Red Cross and One Blood. Due to frequent visits to donation centers, we were informed that my father’s blood type allows him to give his blood to patients that suffer from sickle cell disease. Not knowing much about sickle cell disease before this revelation, this personal connection sparked my interest to research this widespread global issue. According to the Smart Engage In Depth Report, sickle cell disease is a genetic hemoglobin blood disorder that occurs when a person inherits the sickle cell gene from both of their parents (“Sickle Cell Disease”). Due to the irregular hemoglobin levels, the red blood cells become “sickled” and reduce blood flow throughout the entire body (“Sickle Cell Disease”). Overtime, the blockage of blood vessels can lead to severe organ damage, which can be fatal (“Sickle Cell Disease”). Thankfully, recent discoveries in treatments for the disease may allow a better quality of life and longer life expectancy. Research from The Pediatrics Week Report finds that “Sickle cell disease traditionally has had a high mortality rate; however, children with sickle cell disease are now living longer, healthier lives thanks to early diagnosis and effective treatment” (“Hematologic Diseases and Conditions”). Going forward, this essay serves to discuss not only this increased quality of life for sickle cell patients, but also the process of finding the symptoms for early diagnosis, the best treatments, and the overall prognosis. Identifying the symptoms of sickle cell disease early in a patient’s life is a crucial step towards the road to recovery. Unfortunately, the disease is not easy to diagnose. In fact, findings in the Smart Engage In Depth Report prove that the symptoms of sickle cell disease are not apparent until the infant’s hemoglobin levels have dropped (“Sickle Cell Disease”). Meaning that doctors cannot see the symptoms early enough to prevent the development of sickle cell disease (“Sickle Cell Disease”). The symptoms of sickle cell disease vary from infancy to adulthood and gradually become more severe as time goes on. Late in the baby’s first year they may experience fevers, swelling of the hands and feet, and frequent upper respiratory infections (“Sickle Cell Disease”). Common symptoms in children may include severe pain—mostly in the legs and back—soreness and loss of breath, and jaundice—a yellowish discoloration of the skin and eyes (“Sickle Cell Disease”). Through adolescence and into adulthood common symptoms also include chronic joint pain, gum disease, and progressive anemia (“Sickle Cell Disease”). Once the symptoms of sickle cell disease have been identified, the patient will need a doctor’s precise diagnosis based on the symptoms they have experienced. The most effective way to diagnose sickle cell disease is proven to be through various blood tests (“Sickle Cell Disease”). According to Smart Engage In Depth Report, sickle cell blood tests calculate the hemoglobin levels to determine if the patient is anemic or not. An additional blood test can also confirm if the patient has sickle cell disease or if the symptoms have flared up from only having the sickle cell trait (“Sickle Cell Disease”). In recent years, physicians have found new ways to help prevent life risking repercussions of sickle cell disease, such as a stroke. A Transcranial Doppler is a ultrasonographic test used to calculate the velocity of blood flow through the brain and allow the physician to identify if the patient is at a high risk for stroke (“Sickle Cell Disease”).Additionally, the most common symptom and complication of sickle cell disease is referred to as a sickle cell crisis (“Sickle Cell Disease”). The definition of a sickle cell crisis is described in a study by Yvonne D’Arcy, a Nurse Practitioner in the field, as a “[s]evere pain caused by the clumping of abnormal, sickle-shaped red blood cells.” This sharp and throbbing pain could strike in numerous places in the body, such as the legs, arms, chest, stomach and back (“Sickle Cell Disease”). As mentioned in the scholarly journal “Managing a Sickle Cell Crisis,” these painful episodes could be set in motion by dehydration, infection, and even stress (D’Arcy). When dealing with a sickle cell crisis, the pain is described as unbearable, and as the crises become more frequent, the patient is prescribed an appropriate dosage of opioid to help relieve as much of the agony as possible—but only the pain is treatable, not the source of the disease (D’Arcy). After receiving a correct diagnosis, the patient is eligible for immediate treatment. When dealing with sickle cell disease, the main focus of treatment is to relieve pain and avert infection (“Sickle Cell Disease”). The Smart Engage In Depth Report advises patients to only request treatment from hematologists—doctors that specialize in blood disorders—or to go to a medical center that has experience with treating sickle cell disease. To prevent infection, antibiotics with penicillin are regularly prescribed to patients of all ages suffering from sickle cell disease (“Sickle Cell Disease”). Hydroxyurea is another prescription for the people of great concern that suffer from excessive episodes of pain. In order to manage the high risk of stroke for sickle cell patients, a blood transfusion is a critical treatment they may endure. This process involves extracting a calculated amount of blood, immediately followed by a transfusion of a new unit of red blood cells (“Sickle Cell Disease”). A study by Tina Jegede and Heather Rawle from the Nursing Standard brings awareness to the value of consent for a blood transfusion by stating, “The potential for cognitive deficits in patients with sickle cell disease who have had a stroke can affect their ability to make informed decisions about treatment” (Jegede and Rawle). Meaning, because the effects one may endure from a stroke can affect their state of mind, leaving them unable to make critical decisions that could change their life forever, therefore no one should.The most effective way and debatably the only possible cure for sickle cell disease is a bone marrow transplantation (“Sickle Cell Disease”). The bone marrow develops early stem cells that transform into red and white blood cell platelets (“Sickle Cell Disease”). By removing the original sickle cell infested bone morrow and replacing it with a new donated healthy one, hemoglobin may be produced at a regular level (“Sickle Cell Disease”). Although bone marrow transplants are very effective, most people are unable to receive the procedure due to lack of a fully matched donor. Even though bone marrow transplants may be one of the only cures for sickle cell disease, complications of serious infection and bleeding on the brain prevent bone marrow transplants from being performed for sickle cell patients (“Sickle Cell Disease”).The prognosis of sickle cell disease a patient receives is greatly determined by their inherited factors. According to Dr. Mentzer and Dr. Wang, “[in] Africa during the 1940s and 1950s very few persons who had sickle cell disease survived to reach adulthood.” However, as recent as 1980, there was and continues to be rapid improvement for life expectancy: “In the United States sickle cell patients are now surviving four five or even six decades of life” (Mentzer and Wang). Thus, this information proves that when and where someone with sickle cell disease is born greatly affects their survival rate. While the overall prognosis of sickle cell disease in the first year is less clear, a multitude of natural prospective studies are underway currently that should better define and improve the prognosis of sickle cell patients in the future (Mentzer and Wang).In conclusion, sickle cell disease is a very serious, life-threatening condition that should be diagnosed and then treated as soon as possible. Consequently, when the symptoms are not caught early in life, even if the diagnosis is done with absolute certainty and the treatments are executed precisely, a patient’s life may still be only prolonged a year or two, due to the diseases consistently poor prognosis. Things, however, are beginning to look up. Thankfully, in recent years, largely due to medical improvements, the life expectancy for those with sickle cell disease could rise to a possible six decades, which has drastically increased from the disease’s previously high child and adolescent mortality rate. Thus, if medical research and practices continue to follow the upward rate of improvement it has been on so far, it is not far-fetched to hope for a future free from sickle cell disease. For now, however, in regard to sickle cell disease it is certain that early diagnosis and subsequent treatment are crucial for a patient’s survival and quality of life. Work Cited D’Arcy, Yvonne. “Managing Sickle-Cell Crisis.” Nursing, vol. 34, no. 1, 2004, pp. 24-5.ProQuest, www.revproxy.alamancecc.edu/login?url=https://search.proquest. com/docview/204623736?accountid=824.”Hematologic Diseases and Conditions–Sickle Cell Anemia; Studies from WashingtonUniversity Yield New Data on Sickle Cell Anemia (Arteriopathy Influences PediatricIschemic Stroke Presentation, but Sickle Cell Disease Influences StrokeManagement).” Pediatrics Week, 22 Jun 2019, pp. 610. ProQuest,www.revproxy.alamancecc.edu/login?url=https://search.proquest.com/docview/224302378?accountid=8241.Jegede, Tina, and Heather Rawle. “Informed Consent for Exchange Blood Transfusions in SickleCell Disease.” Nursing Standard, vol. 23, no. 4, 2008, pp. 44-9. ProQuest,www.revproxy.alamancecc.edu/login?url=https://search.proquest.com/docview/21984321?accountid=8241.Mentzer, William C, J.R., M.D., and Winfred C. Wang M.D. “Sickle-Cell Disease: Prognosisand Treatment.” Pediatric Annals, vol. 9, no. 8, 1980, pp. 23-27. ProQuest,“Sickle Cell Disease.” Smart Engage. In Depth Report; Johns Creek, 30 May 2018. ProQuest,www.revproxy.alamancecc.edu/login?url=https://search.proquest.com/docview/208770004?accountid=8241.