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Paper on sickle cell anemia for this class
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Sickle cell anemia is a genetic blood disorder where the red blood cells, which are usually round and flexible, become stiff and shaped like a crescent or sickle. This happens because of a change in the hemoglobin, the protein in red blood cells that carries oxygen. The abnormal hemoglobin, called hemoglobin S (HbS), makes the cells change shape when they lose oxygen. These sickle-shaped cells can get stuck in small blood vessels, blocking blood flow and causing pain and damage to organs. They also break apart more easily, leading to a shortage of red blood cells, which causes anemia. People with sickle cell anemia often have symptoms like severe pain episodes, tiredness, swelling in the hands and feet, frequent infections, and issues with organs like the spleen and kidneys. The disease is inherited, meaning a person gets it if they receive the sickle cell gene from both parents.
Sickle cell anemia is caused by a genetic mutation in the gene responsible for producing hemoglobin, the protein in red blood cells that carries oxygen. Specifically, the disorder arises from a single nucleotide substitution in the β-globin gene on chromosome 11, where valine replaces glutamic acid at the sixth position of the β-globin chain (Adams-Graves P, Kedar A, Koshy M, et al. RheothRx (poloxamer 188) injection for the acute painful episode of sickle cell disease: a pilot study. Blood. 1997;90:2041–6). The pain episodes can occur suddenly and affect various parts of the body, including the chest, abdomen, and joints. In addition to pain, the blockage of blood flow can cause damage to organs and tissues, leading to complications such as acute chest syndrome, stroke, and organ dysfunction. The rigid sickled cells also break apart more easily than normal red blood cells, leading to a shortage of red blood cells, known as hemolytic anemia. This chronic anemia causes fatigue, pale skin, shortness of breath, and delayed growth in children. Some clinical manifestations and symptoms that can develop because of sickle cell anemia are: Acute chest syndrome, characterized by chest pain, coughing, and difficulty breathing, is a life-threatening condition that can occur due to sickling in the lungs. Children with sickle cell anemia are also at risk for strokes, kidney damage, and growth delays due to the ongoing strain on their bodies. Additionally, hand-foot syndrome, or dactylitis, is common in young children and presents as painful swelling in the hands and feet. Over time, the cumulative effects of these complications can lead to organ damage and vision problems, highlighting the need for careful, ongoing management of the disease. Concept map:
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