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Sickle Cell Anemia

Sickle Cell Anemia takes place in the bloodstream of the body. The ‘Sickle’ reference is in relation to the disordered shape red blood cells take. The way the disease is acquired is through hereditary genes. The disease is primarily characterized by chronic anemia, and frequent episodes of pain. Hemoglobin, an important element in the red blood cell is found to be defective. The job of hemoglobin molecules is to transfer oxygen from the lungs throughout the body, and then transfer carbon dioxide from the body back to the lungs, then finally out of the body altogether.

Since the hemoglobin in the defected body is abnormal, after it gives up the oxygen, the molecules cluster together and form long rod-like structures. These formations cause the red blood cells to become stiff; they then assume a sickle shape. Normal red blood cells appear to be donut-shaped and smooth in texture, these cells pass through any blood vessel with ease. Sickled cells don’t flow through blood vessels as easily, and usually cause blockage. This results in deprivation of oxygen rich blood to organs and tissues that need it. This causes the painful episodes that associate with the disease.

This pain can seriously damage vital organs such as the heart, lungs, kidneys, spleen, pelvic bones and even the brain. Certain tissues can become infected and can cause other serious complications. The cycle of a normal functioning red blood cell is about 120 days. Sickle cells differ in that they last 10-20 days long. Since the body cannot Jenkins 3 replace them fast enough, the red blood cell supply shortens and creates a condition called Anemia. Sickle cell anemia is caused by a mistake in the gene that instructs the body on how to make hemoglobin.

The defective gene instructs the body to make abnormal hemoglobin, which then causes the red blood cells to take strange shapes. Thousands of years ago, a genetic mutation occurred in people from the Mediterranean basin, India, Africa, and the Middle East. As the Malaria Epidemic attacked people of these countries, carriers of the defective hemoglobin gene survived. Carrying one defective gene means that a person has a sickle cell trait. Two parents with the trait will produce a child with sickle cell anemia. People of these countries migrated and spread to other areas.

In the Western Hemisphere, where malaria is not much of a problem, having the abnormal hemoglobin gene has lost its advantage. Any child born from parents that each has the trait will be born with the disease. Approximately, two million Americans carry the sickle cell trait. 72,000 people are affected by sickle cell anemia in the U. S. , most of whose ancestors had come from sub Saharan Africa, Spanish speaking regions, and Mediterranean countries such as Turkey, Greece, and Italy. In Hispanic American births, one in every thousand people acquire sickle cell anemia.

The symptoms created by the blockage of blood flow can vary from patient to patient. Some have milder symptoms than others. Physicians use Hand-foot syndrome on patients to determine the disease. Sickle cells that clog small blood vessels in the hands and feet are one characteristic of the disease. Symptoms the patient suffers are swelling of the hands, feet and various joints. The pain occurs in any joint or organ impulsively. The amount of pain can vary from person to person. Patients may have painful episodes or ‘crises’, while for others; they may not be as painful.

They can be as Jenkins 4 many as fifteen a year, or less than one time a year. The pain can last for a few hours or several weeks. When the pain and swelling becomes too severe, patients are hospitalized and given intravenous fluids and painkillers. The anemia causes pallor of the skin, fatigue, and shortness of breath. The rapid breakdown of red blood cells in the body during the disease can cause yellowing of the skin and eyes. These are symptoms of Jaundice. If there is extensive damage to the spleen, it may leave patients struggling with infections.

Their bodies will have a harder time fighting off infections that the spleen would destroy. Because of its incapability, the bacteria can be fatal in the body it affects in as little as nine hours. Pneumococcal infections were the principal causes of death in young children with sickle cell anemia. Physicians then began to give penicillin to infants that were diagnosed with sickle cell to prevent infection, and further on, sudden death. Sickle cell anemia can also be associated with blindness. The retina can deteriorate because it does not receive the proper nutrients that it needs.

The eye then cannot process visual images. Since shortages of red blood cells are associated with this disease, it also causes slow growth rate in adolescents. Adults also usually have a small slight build. Preteens will experience delayed puberty and growth. Patients that experience severe back pain associated with acute chest syndrome use an Incentive Spirometer. Having the syndrome prevents the patient from breathing deeply. The device, which is a small plastic tube with a ball inside, encourages the patient to blow air hard enough, forcing air toward the ball so that the ball is forced up the tube.

This helps the patient inhale more deeply. Acute Chest syndrome is another life threatening complication of sickle cell anemia. It is similar to pneumonia and is caused Jenkins 5 either by infection, or trapped sickled cells in the lungs. Its symptoms are characterized by chest pain, and abnormal chest x-ray, accompanied with fever. Children are also susceptible to stroke. Since the defective cells stick to the walls of blood vessels, this results in the narrowing of blood vessels in the brain, which causes a serious life-threatening stroke.

As with all diseases, early diagnosis of sickle cell helps the treatment process toward a successful outcome. Hemoglobin electrophoresis is the most used diagnostic test in over forty states. It is done at the same time as all of the newborn screening tests. The test can determine whether the child has the sickle hemoglobin. A second test is done to determine if the child also carries the trait. The trait or disease can also be detected in unborn children. The test can be administered as early the first trimester of pregnancy.

Physicians will extract a sample of the amniotic fluid or tissue from the placenta to determine if the child has sickle cell anemia, or just carries the trait. Since there is no cure for sickle cell anemia, treatments that are being developed are becoming more effective. Basic treatment for a patient relies solely on oral or intravenous fluids; which help to prevent further complications, and painkillers. Blood transfusions also aid in avoiding serious complications. It properly adjusts the anemia the body acquires from the shortage of red blood cells. The transfusion introduces normal healthy blood cells in blood circulation.

In children, transfusions aid in preventing reoccurring stroke, especially in children with high risk of complications that may cripple the nervous system. Preventing Pneumococcal infection can be successful if sickle cell is caught early. Beginning when the child is two months old, they are given oral penicillin until Jenkins 6 about the age of five. However, recent studies show that there are new strains of pneumonia bacteria that are resistant to penicillin. Since the penicillin is now ineffective, studies are being planned to start testing on new vaccines.

For adults, the first effective treatment was found in 1995. The anti-cancer drug treatment Hydroxyurea showed to diminish acute chest syndrome, as well as frequent, painful crises. Daily dose also prevented patients from having to undergo frequent blood transfusions. Before the drug is administered to children, extensive studies are being done to classify the long-term side effects. Some researchers are focusing on finding drugs that increase levels of fetal hemoglobin in the bloodstream. Fetal hemoglobin is a type of hemoglobin that every human produces before birth.

Some humans stop making it shortly after. Fetal hemoglobin can prevent sickling of red blood cells, and cells have longer survival rates in the bloodstream when they contain this type of hemoglobin. Some people with sickle cell tend to continue making huge amounts of fetal hemoglobin. Studies have shown that these people have less severe complications from the disease. Hydroxyurea seems to stimulate production of fetal hemoglobin in patients with sickle cell. Studies show that the anti-cancer drug works best with erythropoietin, a genetically engineered hormone that encourages red blood cell production.

It eventually lowers the use of Hydroxyurea to help create fetal hemoglobin. However, there are studies being done to determine the serious side effects. As an alternative, Butyrate, a simple fatty acid that is used as a food additive may also be used as an agent that may encourage fetal hemoglobin production, however this is still being investigated. Over the counter medications, such as Clotrimazole, which is commonly Jenkins 7 used to treat fungal infections, is being currently investigated as a treatment that helps prevent the loss of water in red blood cells. This can stop the red blood cell from becoming stiff.

If there are no harmful side effects, hopefully it can be used with other anti-sickling agents and provide long-term effective treatment for patients. Bone marrow transplants show positive outcomes for children who are affected severely with sickle cell disease. The transplant must be done with a healthy matched sibling donor, or there may be complications. A small eighteen percent are most likely to have a matched donor. Research is still being done to make the transplants safer. Ultimately, a cure for sickle cell may lie in gene therapy. Two approaches are still being explored.

Some researchers are looking to correct the gene and implanting it into the bone marrow so it can produce normal hemoglobin. Another possibility may be going into DNA strands, finding and turning off the defective gene while simultaneously activating another gene that starts the production of fetal hemoglobin. Both methods are still in their early states; however there is a real possibility of reaching a cure for the disease. Undergoing proper treatment can increase life expectancy. The average age a male and female can live with severe sickle cell anemia is 42 to 48 years.

With the help of the right treatment, life expectancy can be stretched up to as much as 70 years. Along with treatment, like any disease, maintenance of health is very critical to the sickle cell patient. Avoidance of unnecessary stress, knowing and maintaining good nutrition, plenty of bed rest, and proper hygiene are all important precautions one must take to avoid complications and preserve good health. Visits to physicians or clinics on a regular basis helps to identify early changes in health and can immediately administer treatment if necessary.

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