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Sickle cell anemia (SCA) is an inherited genetic abnormality of the oxygen-carrying protein found in red blood cells called hemoglobin S and is characterized by crescent-shaped (sickle) red blood cells and chronic anemia caused by excessive destruction of the abnormal red blood cells. Sickle cell anemia and the term sickle cell disease (SCD) are often used interchangeably; however, SCD is an umbrella term while SCA is one of 3 main genotypes (Foster & Ellis, 2018). SCA is usually diagnosed within the first 2 years of life. Mennella and Parks-Chapman (2018) state that SCA and sickle cell trait occur primarily in persons who are of African descent, persons with Mediterranean, Middle Eastern, Caribbean, and Asian Indian ancestry can have SCA.
In SCA, the red blood cells contain an abnormal form of hemoglobin called hemoglobin S. When red blood cells contain a large amount of hemoglobin S, these red blood cells can become deformed into a “sickle” shape and are less flexible and become more prevalent when individuals have infections or decreased levels of oxygen in the blood. The sickle cells are brittle and break apart easily. Because the sickle cells are stiff, they have difficulty traveling through the smallest blood vessels which are called the capillaries, thus blocking blood flow and reducing oxygen supply to tissues in areas where these tiny vessels are blocked. This blockage of blood flow can cause pain and, over time, cause damage organs such as the spleen, kidneys, brain, bones, and other organs as well as causing renal failure and heart failure.
Although there is no hallmark sign for an individual with SCA, the symptoms they tend to experience are generally fatigue or feeling weak. Some individuals can even have jaundiced eyes. The hallmark symptoms for an individual undergoing a sickle cell crisis include severe bone pain, chest pain, fever, and shortness of breath. Some common lab results would reveal a low hemoglobin and an elevated white blood cell count, platelet count, and reticulocyte count.
Potential complications of SCA include ischemic cerebrovascular accident, vaso-occlusion of the pulmonary vasculature, pneumonia, splenic sequestration crisis, severe infection resulting from impaired splenic function, renal dysfunction, chest pain syndrome, enlarged heart, osteomyelitis, retinopathy, blindness, transfusion-related illness due to low hemoglobin, gallstones, chronic pain, enlarged liver, bloodstream infection and aplastic crisis.
Because there is no cure for SCA, supportive treatment is the only therapy available. I would educate the patient to refrain from flying at high altitudes, prevent infection such as proper handwashing techniques and receiving necessary vaccinations, maintain hydration, and avoid extreme temperature fluctuations as these actions can help prevent a sickle cell crisis. I would stress to the patient to adhere to his or her prescribed medications as indicated. In terms of diet, I would advise the individual with SCA to consume a diet high in calories with special attention to protein, minerals such as zinc, copper, folate, and vitamins A, C, E all while spaced out into smaller, frequent meals.
Sickle cell disease is a group of disorders of which sickle cell anemia is the most severe. Sickle cell anemia is an autosomal recessive disorder that is caused due to a genetic mutation where the amino acid valine replaces glutamic acid to cause an abnormal form of hemoglobin within the red blood cells. “The resulting substitution of the hydrophilic amino acid glutamic acid at the sixth position by the hydrophobic amino acid valine leads to the production of hemoglobin S (HbS)” (Wun & Brunson, 2016, p. 640). When deoxygenation and dehydration occur, the red blood cell changes its shape into an elongated crescent (sickle) shape which can lead to a variety of consequences (McCance et al., 2013). Vascular occlusion, organ infarction, and pain are among the complications caused by this disorder. According to McCance et al. (2013) “sickling is an occasional, intermittent phenomenon” (p. 1065) and can be triggered by hypoxemia, a decreased pH, an increase in plasma osmolality, a decrease in plasma volume, or a low temperature. If the sickled red blood cells are not reoxygenated and rehydrated appropriately, irreversible plasma membrane damage may occur which leads to irreversible sickling.
Clinical manifestations of sickle cell anemia include the typical signs of hemolytic anemia – “pallor, fatigue, jaundice, and irritability” (McCance et al., 2013, p. 1066) and are sometimes accompanied by an acute manifestation or crises. There are four types of crises that can be triggered by extensive sickling: vaso-occlusive crisis, aplastic crisis, sequestration crisis, or hyperhemolytic crisis (McCance et al., 2013). Vaso-occlusive crisis is when sickling occurs in microcirculation and obstructs blood flow, causing vasospasm, and can lead to painful swelling of the hands and feet, priapism, severe abdominal pain, and even stroke (McCance et al., 2013). Aplastic crisis typically occurs as a result of a viral infection. Parvovirus B19 is a virus that almost always causes a person with sickle cell anemia to go into an aplastic crisis and causes the production of red blood cells to be shut down temporarily, which leads to a severe hemoglobin drop. Sequestration crisis occurs when blood becomes pooled in the liver/spleen and can lead to death if not treated with hydration and a blood transfusion. Treatment for recurrences of this crisis is the removal of the spleen after the age of 5. Hyperhemolytic crisis is characterized by red blood cell destruction at an accelerated rate, and symptoms include anemia, jaundice, and reticulocytosis.
Supportive care, which is aimed at the avoidance of these crises, is one of the key factors in the treatment and management of sickle cell disease. “Crises can be prevented by avoiding fever, infection, acidosis, dehydration, constricting clothes, and exposure to cold” (McCance et al., 2013, p. 1068). Additionally, it is recommended that all routine childhood immunizations, along with the pneumococcal and meningococcal vaccine series, and an annual influenza vaccine be given to all patients with a sickle cell disease.
For this patient, it is important to ensure that she understands the severity of her disease and how to avoid going into a sickle cell crisis, as well as the potentially life-threatening consequences if she’s not careful.
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