Sickle to sub-classify the disease. In the

Sickle Cell Anemia was discovered in 1910 by Dr. James Herrick when a patient by the name of Walter Clement Noel came in with symptoms of acute chest syndrome which is common in sickle cell patients. (“Smith”) Then between the years of 1949 and 1954 scientist began to observe that the haemoglobin for sickle cell anemia moved at a faster rate than normal haemoglobin and haemoglobin electrophoresis became widely available which allowed scientist to sub-classify the disease. In the 1970s multiple health organizations became aware of the disease and started fundraisers and raising awareness of the disease. Sickle cell anemia is caused by a point mutation on the DNA strand that codes for beta-globin. It is as simple as an adenine being switched for a thymine that derails the entire DNA strand. This mutated strand of DNA will eventually code for a hemoglobin that will not function as it should. Hemoglobin A, normal hemoglobin, is the protein that carries oxygen from the lungs to the tissues and other organs through the smallest blood vessels, but the mutated hemoglobin, hemoglobin S, will carry the oxygen as it should then release it and clump together causing a long strand of hemoglobin in the cells. This long strand causes the cell to loose its shape and become “sickle-shaped.” The sickle cells die much faster than normal red blood cells and the body can not replace them fast enough causing anemia. Sickle cells can also not fit through small blood vessels causing blockages, which can prevent  major organs and tissues from getting the oxygen needed. The lack of oxygen due to these blockages can lead to major health complications including strokes and impaired immune system.     One physical alteration caused by sickle cell anemia is children with the disease can have stunted growth and delay puberty. Once these children grow up they can become normal height but will most likely always be below average in weight. The disease will also present itself as painful crises. This symptom is present in both children and adults infected with sickle cell anemia. These will caused by blockages in the small blood vessels and can cause bone pain, swelling, and pain in other places of the body. Hand-foot syndrome is a type of painful crisis and is a typical sign of sickle cell anemia in infants. Another symptom of sickle cell anemia is an enlarged spleen. This damage to the spleen can cause an impaired immune system leaving infants and toddlers susceptible to life threatening infections. Other symptoms of sickle cell anemia are strokes, acute chest syndrome, kidney damage, enlarged or damaged livers, and impaired vision.      This disease is an inherited autosomal recessive gene. This means that if the parents of a baby with sickle cell anemia must be either homozygous recessive or heterozygous. If the parents are heterozygous the may not have sickle cell anemia but there is a 25% chance that their offspring will have this disease.         Sickle cell anemia can be identified by a test called the sickle cell test. This test cannot determine whether someone just has the sickle cell trait or sickle cell anemia. In order to determine whether a person has sickle cell anemia or just the trait doctors will do gel electrophoresis. This test can separate the blood cells by shape, size, and electric charge. If both hemoglobin A and S are identified the patient just has the trait but if only hemoglobin S is found they have sickle cell anemia. Sickle cell anemia can also be diagnosed before birth by doing test on the fetus if the parents have been identified as carriers.     Sickle cell anemia is most common in people with ancestors from sub-Saharan Africa, the Middle East, India, and the Mediterranean region. The sickle cell trait is also commonly found in places that are highly affected by malaria. It is also very common in hispanic people. An estimated amount of 250,000 babies each year are born with sickle cell anemia.     Bone marrow transplants so far are the most effective treatments for sickle cell anemia in children. Sadly adults have a higher chance of their bodies rejecting the marrow and other complications including chronic graft versus host disease, infertility, and cancer. One of the most promising drugs in curing sickle cell anemia directly is hydroxyurea. It was originally designed as an anticancer medicine but also helps prevent the need for blood transfusion, acute chest syndrome in adults, and reduce the frequency of painful crises. There are treatments for some of the symptoms though. Blood transfusions are not a common form of cure but can help prevent painful crises, severe anemia, strokes, and spleen enlargement. Typically infants infected with sickle cell anemia will immediately be started on penicillin, which will help prevent fatal infections. There are also many forms of pain management that can help patients with severe pain and mild pain.     Right now researchers are looking for ways to determine if there are ways to stop the serious complications that come along with sickle cell disease such as strokes, respiratory problems and vulnerability to infections. Even though research is still being done the cures have advanced a lot. In 1970 the life expectancy of someone affected by this disease was 14 years. Now people can live past 40. The National Heart, Lung. and Blood Institute has put over $1 billion dollars into researching cures for this disease. They have also provided trainings and scientific workshops to help people know how to care for their patients with sickle cell anemia.    Naomi Bethel is a 13 year old girl who was diagnosed before she was born. Naomi’s parents were devastated to know that their baby would have sickle cell anemia. So they did a lot of research on the disease and the cures. Once Naomi was born she was started on penicillin and her parents kept her away from any place that they thought might be germ infested including pools and playgrounds. Now that Naomi is older she goes in for regular checkups and has started taking hydroxyurea. Even though she has a disease she does not let it stop her. She excels in school and dance and doesn’t let her symptoms stop her from being a normal little girl.

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