Sickle Cell Anemia Case Study Assignment

Sickle cell anemia is a class of hereditary erythrocyte-based disorders. People with the condition possess an abnormal protein in their red cells. The initial signs include the swelling of the feet and hands, fatigue, and jaundice. With time, the disease can cause problems, including slow growth, pain episodes, and infections. Moreover, the condition can destroy a patient’s eyes, spleen, liver, lungs, penis, bones, joints, skin, or heart (Ware, de Montalembert, Tshilolo, & Abboud, 2017). Bone marrow stem cell transplant is, at present, the only acknowledged treatment for sickle cell anemia. In the U.S., the infection is most common among people of Hispanic and African backgrounds. However, the disorder impacts millions of people globally, most commonly in Mediterranean nations and their equivalents in the Arabian Peninsula, India, South America, portions of the Caribbean region, and Central America. It is the most common inborn blood infection in the U.S. impacting up to 80,000 people. The infection is likely to affect one in 500 and one in 400 African-Americans and Hispanic-Americans respectively.

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Etiology and Risk Factors

Sickle cell disease is occasioned by abnormal hemoglobin (hemoglobin S), which fabricates erythrocytes into a sickle nature/shape. It causes them to die prematurely leading to anemia. The abnormality is due to a gene mutation that is hereditary and passed on to subsequent generations in an autosomal recessive pattern (Ceglie et al., 2019). In the U.S., most persons with the disorder are of African origin with nearly one in 13 of such children being born with the trait. One Black newborn with the trait out of 365 also ends up developing sickle cell anemia. Thus, one’s region of origin, be it Hispanic, African, southern European, Asian Indian, or Middle Eastern, is a critical risk factor. The incidence of the disease often occurs at around 5 to 6 months of age with complications, such as stroke, developing as one gets older. Cold-weather, and low oxygen level environments are known to deform erythrocytes leading to their death, and anemia (Kahaly, et al., 2017). Finally, emotional and physical stress can trigger severe sickle cell anemia crisis implying that socializing, bed rest, and engaging in moderate physical exercise can lower the said risk. Sickle Cell Anemia Case Study Assignment

Pathophysiological Processes

Central to sickle cells’ pathophysiology is the massive deformation and eventual loss of red cells. Normal erythrocytes are not only elastic but also biconcave disc-wrought enabling them to go past capillaries smoothly. In sickle cell patients, reduced oxygen pressure encourages red blood cells sickling resulting in recurrent incidences of the same nature that damage the cell lining and reduce their elasticity (Kato, Steinberg, & Gladwin, 2017). Consequently, the cells are unable to conduct their functions as expected. For instance, the inelastic erythrocytes cannot go past capillaries resulting in vessel obstruction and ischemia. The destruction of red blood cells is called hemolysis. Responding to these changes also involves the bone marrow manufacturing new erythrocytes but this cannot match the level of deformation (Kato et al., 2017). The body also reacts by consuming nitric oxide, which is responsible for vasodilation. The outcome is a vasculature that is constricted and inflamed, which further distorts red blood cells.

Clinical Manifestations and Complications

The physical signs and symptoms of the infection are acute and chronic soreness, fatigue and anemia, heart and lung injury, leg ulcers, pulmonary tension, infections, bone pain, bacterial infections, liver congestion, and the inflammation and swelling of the hands and feet and arthritis (Ware et al., 2017). The signs that tell diagnosis include pulmonary tension, infections, bacterial infection, liver congestion, anemia, and heart and lung injury. Conversely, the symptoms that lead to a diagnosis include acute and chronic pain, fatigue, leg ulcers, bone pain, the inflammation and enlargement of the hands and feet, and arthritis. On the other hand, the complications of the infection include gallstones, impaired vision, pulmonary high blood pressure, acute chest syndrome, stroke, organ damage, leg ulcers, splenic pooling, and priapism (Ware et al., 2017). Finally, if complications are left untreated, different outcomes can be felt. For instance, priapism can cause impotence, stroke can lead to overwhelming neurological impairment, splenic pooling can result in the death of children below five years of age, and acute chest syndrome can occasion permanent lung destruction. Sickle Cell Anemia Case Study Assignment

Diagnostics

Apart from a full medical account and physical analysis, diagnostic techniques for this infection may involve blood tests, a full family history, and the screening of newborns. Hemoglobinopathy testing, which is a procedure that looks for abnormalities of the hemoglobin, is one of the newborn screening blood tests that are done regularly. On the other hand, a hemoglobin electrophoresis, another blood test, is utilized to identify if the patient has a particular sickle cell gene or an infection linked with the traits (Kato et al., 2017). Prenatal screening can also be conducted using a small portion of the amniotic fluid within the first 10 weeks of pregnancy to tell between a sickle hemoglobin trait and a normal one. Finally, early diagnosis and its findings are important in order to offer useful preventive treatment for the overwhelming sickle cell disease complications.

References

Ceglie, G., Di Mauro, M., De Jacobis, I. T., De Gennaro, F., Quaranta, M., Baronci, C., & Palumbo, G. (2019). Gender-related differences in Sickle Cell Disease in a pediatric Cohort: A single-center retrospective study. Frontiers in Molecular Biosciences, 6, 40.

Kahaly, G.J. (2017). Environmental determinant of severity in sickle cell disease. Haematologica,   376(2), 184-186.

https//doi.org/10.1056/NEJMc1614634

Kato, G. J., Steinberg, M. H., & Gladwin, M. T. (2017). Intravascular hemolysis and the pathophysiology of sickle cell disease. The Journal of Clinical Investigation, 127(3), 750-760.

https//doi.org/10.1172/JC189741

Ware, R. E., de Montalembert, M., Tshilolo, L., & Abboud, M. R. (2017). Sickle cell disease. The Lancet, 390(10091), 311-323.

Sickle Cell Anemia Case Study Assignment