Table of Contents
Overview of the Disease
Sickle cell anemia is a hereditary condition in which the red blood cells have the crescent or sickle shape instead of the ordinary oval shape. The Pathophysiology, signs and symptoms, diagnosis, and treatment of the disease are discussed.
Pathophysiology
A change in the structure of hemoglobin is the underlying pathophysiology of the sickle cell disease. The structural change in the hemoglobin occurs in the β gene in which thymine replaces adenine (Arber, Glader, List, Means, Paraskevas, & Rodgers, 2013). The replacement of adenine leads to the encoding of valine acid instead of the glutamic acid and reduces the stability and solubility properties that are important to the flow and functionality of the red blood cells (Arber, Glader, List, Means, Paraskevas, & Rodgers, 2013). The encoded valine in the hemoglobin chain leads to the formation of the hemoglobin S that defines the sickle cell disease (Cook, Thomas, Nolan, Parr, 2014). Hemoglobin S in sickle cell patients polymerizes, under oxygen deficiency, and causes thrombosis and the lysis of red blood cells (Saliou, Theaudin, Join-Lambert, & Souillad-Scemama, 2013). “Erythrostasis, microvascular occlusion,” and tissue infraction (Cook, Thomas, Nolan, Parr, 2014, p. 337) occur in addition to the thrombosis.
Signs and Symptoms
Clinical manifestations of sickle cell anemia can be noticed after the age of three to four months (Cook, Thomas, Nolan, Parr, 2014). Acute pain in the abdomen and pneumonia-like symptoms, stroke, priapism, and dactylitis” are some of the manifestations of the disease (Cook, Thomas, Nolan, Parr, 2014, p. 337; The National Heart, Lung, & Blood Institute, 2017). Other symptoms are loss of appetite, organ failure, and weakness that often follow episodes of attacks as well as organ failure (Cooper & Gosnell, 2014). The chronic kidney disease and pulmonary blockage are some of the manifestations of organ failure that relate to the sickle cell disease (Merck Manual, N.d.). Kidney cancer and a short torso in children, with long limbs, are other indications of the disease (Merck Manual, N.d.).
Diagnostics
The signs and symptoms indicate a possible incidence the sickle cell anemia, but confirmatory tests exist. A blood test that observes the blood under a microscope is one of the diagnostic measures and it relies on the change in the red blood cells in sickle cell anemia patients. Hemoglobin electrophoresis that separates types of hemoglobin is also used to identify abnormal hemoglobin for the diagnosis of the disease (Merck Manual, N.d.). Parental testing (Merck Manual, N.d.), and x-rays and magnetic resonance imaging that visualizes internal body structures are also used to diagnose sickle cell anemia (Cooper & Gosnell, 2014).
Treatment
There is no cure for sickle cell anemia, but treatment measures exist for preventing, alleviating, or managing its symptoms. Pneumonia-related infections and other symptoms, for example, are managed or are treated as independent complications (Cooper & Gosnell, 2014). Behavioral measures, such as restrained physical activity, are used to prevent occurrences of sickle cell crises while folate is used to remedy the deficiency of blood cells due to the disease. Hospitalization for the treatment of damaged organs due to the disease is another treatment measures (Merck Manual, N.d.). Losartan therapy for the prevention of the onset of sickle cell nephropathy (Yee, Lane, Archer, Joiner, Echman, & Guasch, 2017) and hydroxyurea therapy for the management of sickle cell anaemia in children (Phillips, Healy, Smith, & Keenan, 2017) are other examples of treatments for the manifestations of the disease.
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- Merck Manual. (N.d.). Sickle cell disease. The Merck Manual.
- Phillips, K., Healy, L., Smith, L., & Keenan, R. (2017). Hydroxyurea therapy in UK children with sickle cell anemia: A single-centre experience. The Pediatric Blood Cancer.
- Saliou, G., Theaudin, M., Join-Lambert, C. & Souillad-Scemama, R. (2013). Practical guide to neurovascular emergencies. New York, NY: Springer Science & Business Media.
- The National Heart, Lung, & Blood Institute. (2017). About sickle cell disease. PubMed Health.
- Yee, M., Lane, P., Archer, D., Joiner, C., Echman, J., & Guasch, A. (2017). Losartan therapy decreases albuminuria with stable glomerular filtration and permselectivity in sickle cell anemia. The Blood Cells, Molecules, & Disease.