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Sickle Cell Anemia

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Sickle Cell Anemia

"An ISU student died March 12 from complications of Sickle Cell Anemia...there is no cure for Sickle Cell Anemia" (Indiana Statesman, 2004). What is Sickle Cell Anemia? According to National Institute of Health, Sickle Cell Anemia is a lifelong, inherited blood disorder or disease, characterized primarily by chronic anemia and periodic episodes of pain. It is one form of sickle cell disease, a category of blood disorders caused by defective hemoglobin. Hemoglobin is a substance in all red blood cells that enables them to carry oxygen from the lungs, through the bloodstream, to all parts of the body (systemic circulation). With Sickle Cell Anemia, the hemoglobin in the red blood cells is defective, instead of being smooth and donut or disc-shaped, the red blood cells become stiff and sickle-shaped. Therefore, organs and tissues are deprived of oxygen-rich blood, which produces periodic extreme episodes of pain and permanent damage to vital organs (NIH, 1987). The shape of the cell resembles that of a narrow curved blade or "sickle" that is used in cutting grasses -that is how the condition got its name (USDHEW, 1989).

Historically, Dr. James B. Herrick, a well known heart specialist, wrote the first official report on what was to turn out to be a Sickle Cell Anemia. In 1910, he wrote up observations on the unusual case of a 20-year-old black college student, who was sick, in Chicago with many complicated symptoms ranging from shortness of breath, heart palpitation, cough, stomach and muscle pain, ulcers, dizziness, and etc (Linde, 1972). He did the examination of a drop of blood under the microscope, and what he saw were strange blood cells with odd shapes. Many of them were curved like crescents or sickles instead of being round like discs or donuts; the usual shape of a red blood cell. He claimed he had never seen anything like it before, and when he looked through the literature, he could not find any description of the sickle-shaped blood cells either (Linde, 1972). Years later, Dr. Herrick diagnosed some other patients with many chronic complications at different times during his career. The blood samples of those patients showed the same sickle cells shaped red blood cells when looked under the microscope. Soon doctors realized they had what seemed to be a new disease on their hands. The actual term "sickle cell" was used by a doctor, Dr. Emmel in 1917 (Linde, 1972).

Sickle Cell Anemia can occur when an Amino Acid is distorted in its natural group setting in the body. Changing a single amino acid within a protein can alter the structure and function of that protein, sometimes with major consequences for the body's function (Marieb, 2001). According to a personal experience with Professor Michael Angilletta, in a Life Science 231 class section, he said "Sickle cell disease...is a far more common condition in Africa because the protein that causes sickle cells confers some immunity to malaria. In regions of the world where malaria is common, natural selection has favored the sickle cell version over normal hemoglobin. One copy of the gene, from one's mother or father is actually beneficial in such environments, but two copies results in sickle-cell anemia because none of your hemoglobin will be functional..."

The clinical course of Sickle Cell Anemia does not follow a single pattern; some patients have mild symptoms, and others have very severe symptoms, which are generally referred to as "CRISES." However, the basic problem is the same; the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the flow of blood. Usually, the patient is brought to the doctor because of frequent infections or anemia. The presence of sickle Cell Anemia is discovered when the laboratory tests are made. Early symptoms and signs include irritability, poor appetite, failure to develop and grow, vomiting, swollen abdomen, yellow and bulging eyes, jaundice, and dark urine. The heart may also beat vigorously and rapidly and there may be heart murmurs. Pain may occur at any time of the day or night and at any season of the year. Frequently, the patient wakes up in the early morning with severe pain in one or more parts of the body. The attacks of pain occur at irregular intervals (Scott, 1985). Sickle cell symptoms can strike anyone of any age; from a young infant to an old person, and they can strike in any number of ways. Sickle Cell Anemia often strikes at children, even very young children, affecting their growth and development, keeping them from leading normal happy lives. It can slow them down in school so that they never achieve or reach the intelligence level that they otherwise could (Linde, 1972).

In adults, the anemia can be mild or severe. In mild cases, often discovered, it can cause a person to drag through life not seriously sick, but just never having the energy to really enjoy the days going by (Gary and Penn, 1977).In severe cases, the anemia can affect not only the blood system, but the bones, the kidneys, the liver, the spleen, the heart, and even the brain. It can produce long periods of weakness and listlessness, or it can produce excruciating bouts of pain, making the victims want to scream with the intensity of it, making them to their beds in agony (Linde, 1972). In these severe cases, the victims will also have repeated episodes of painful, sometimes life-threatening attacks called "Sickle Cell Crisis." The victim may spend weeks in the hospital several times a year, where his oxygen-starved body will be fighting for survival. "It can also cause death...it is an acknowledged devastating killer...There's no cure for sickle cell anemia, although, gene therapy may someday provide the answer," said a professor (Personal Experience, 2003). In fact, the child with Sickle Cell Anemia has less than a 50% chance of survival or living to his twentieth birthday. Until recently few people with the severe form of Sickle Cell Anemia lived past age forty. One of the frightening things about Sickle Cell Anemia is that a person may have it and never know of it, and unsuspectingly, may tax his body in some ways that triggers the disease, bringing on a severe attack that can cripple the victim for life or even cause his sudden death (Linde, 1972).

Sickle Cell Anemia is chiefly found around people of Africa, Middle East, and India. It is also common in the regions of the world where malaria is prevalent. Studies show that in areas where malaria is a problem, children who inherited one sickle hemoglobin gene and who therefore carried the sickle cell trait, had a survival advantage; unlike the children who had normal hemoglobin genes, they survived the malaria epidemics; they grow up, had their own children, and passed on the gene for sickle hemoglobin (NIH, 1987). Although,

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