Sickle Cell Disease Analysis

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According to “Essentials of Pathophysiology” by Carol Porth, “sickle cell disease is an inherited disorder in which abnormal hemoglobin (hemoglobin S [HbS]) leads to chronic hemolytic anemia, pain, and organ failure”. The recessive gene is inherited and appears as the sickle cell trait if heterozygous or sickle cell disease if homozygous with two HbS genes. The amount of hemoglobin that is affected by the gene depends on if they are heterozygous or homozygous, and therefore affects the gravity of the symptoms (Porth, 2014).
“Approximately 8% of African Americans are heterozygous for HbS and 0.1% to 0.2% are homozygous” (Porth, 2014, pg 283), and according to the Central of Disease Control, 1 in 365 Black or African-Americans and 1 in 16,300
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It is such a simple mutation, yet is so powerful, as it can cause a lifetime of pain and even organ failure.
If the person is a heterozygote with one HbS genes, approximately 40% of the blood is HbS. In homozygotes with two HbS genes, approximately 80% to 95% of the hemoglobin is HbS. When HbS is deoxygenated, it polymerizes and causes the blood cell to become stiff and deformed. With oxygenation, the shape can return to normal, but after multiple cycles of deoxygenation and oxygenation, the red blood cell becomes permanently sickled. The more HbS the person has, the worse the symptoms of the disease. People with less HbS can get away with being asymptomatic (Porth, 2014, pg 284).
Fetal hemoglobin, or HbF, can stop the polymerization of HbS and stop the cell from creating the semisolid gel that makes the red blood cell stiff. Therefore, infants with sickle cell disease have an 8-10 week grace period before HbF is replaced by HbS. They do not experience any symptoms at this time, and without genetic testing, their disease is unknown (Porth, 2014, pg 284).
CLINICAL
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The concentration of hemoglobin in the cell and the rate of which HbS polymerizes has a direct relationship. The more hemoglobin in the cell, the more that the cell polymerizes and damages itself. Dehydration causes an increase in hemoglobin, and in turn causes cells to sickle. When there is an increase in the acidity in the blood, it reduces the need of hemoglobin for oxygen, and results in more deoxygenated hemoglobin and increased sickling (Porth, 2014, pg 284).
Acute chest syndrome occurs when sickling happens in the lungs, ultimately damaging the lung tissue and preventing it from exchanging oxygen properly. It is a very serious complication from SCD. It presents itself with “chest pain, fever, shortness of breath, rapid breathing, and cough” (National Heart, Lung, and Blood Institute, 2016). It is the leading cause of death in sickle cell disease (Porth, 2014, pg 284).
Other symptoms and consequences of SCD include stroke, heart disease, pulmonary hypertension, nocturnal enuresis, gallstones, leg ulcers, avascular/aseptic necrosis, and delayed growth and puberty, just to name a few (National Heart, Lung, and Blood Institute, 2016). As you can see, the symptoms are numerous and have a wide variety.
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