Sickle Cell Anemia 4 Essay Research Paper

Sickle Cell Anemia 4 Essay, Research Paper

There have been many researches and tests done on the genetic causes of Sickle Cell Anemia and how it developes, as well as it s effects on the circulatory, muscular, and respiratory systems, as well as it s effects on the joints and other systems of the body, and the complications associated with them. Most of the research has been done to explore on the reasons why it mostly effects the African-American community and people who are from the West Coast of Africa. It has also been known that Sickle Cell Anemia also effects people from the Mediterranean countries (Wethers, 2000)

Sickle Cell Anemia is a the most common single gene disorder found mostly among Black Americans (Wethers, 2000). According to scientific research, it affects approximately one in 375 persons of African ancestry. According to one researcher, Sickle Cell conditions are also found to be in persons from Mediterranean countries also, such as Turkey, the Arabian peninsula, and the Indian subcontinent ( Wethers, 2000, p.1014). Extensive research has also proved that Spanish speaking persons in the United States, plus people from the Caribbean and South and Central America, are also effected by Sickle Cell Anemia (Wethers, 2000)

The first case of Sickle Cell Anemia was first published in 1910 by scientists, and has since then been followed by at least six decades of many observations, which include genetic, molecular, and pathologic observations (Wethers, 2000) Large bodies of clinical data has on the evolution of Sickle Cell Anemia from birth has been gathered on studies of children since the 1970 s (Wethers, 2000) The United States has studied 3,500 patients

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with the Sickle Cell disease, and based on these studies, the longevity and quality of life of these patients have greatly improved (Wethers, 2000). It has been researched and proven that Sickle Cell Anemia have come from mutations within the human genes that is associated with being immune to malaria, a parasitic blood disease which is carried and contracted by infected mosquitoes (Wethers, 2000) Since malaria is mostly found in hot, moist areas in West Africa and the Mediterranean, people originating from that area produced an immunity to towards malaria, but with consequences. The individual will not contract malaria because the mutation in his or her genes quickly fights off the disease by changing the shapes and composition make-up of the blood cell so the parasites will not be able to survive in it. (Wethers, 2000).

The consequence of this is that because the individual s blood cells mutates and becomes misshapen, becoming moon-crescent or sickle-shaped , or even get spiked shaped. The blood cells then grows and becomes too big to pass through most blood vessels, mostly capillaries and veins, and clump together, forming a mass. (Wethers, 2000) The blood vessels where this happens mostly is associated with the joints and the lungs. When this happens, the child or adults experiences great amounts of pain in their joints and fingers, making it almost impossible for them to ambulate. The joints then get swollen and red. Another condition is that the clump of mutated blood cells can travel to the vessels of the heart and cause a blockage. This is called a thrombosis (Wethers, 2000)

According to research, The most common forms, or variants of Sickle Cell Anemia are homozygous (hemoglobin SS disease), doubly heterozygous sickle cell

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hemoglobin C disease (hemoglobin SC disease), and the sickle Beta-thalassemias (Wethers, 2000, p. 1014) Children and adults with homozygous sickle cell disease inherit a sickle cell (S) gene from each of their parents, and shows all the signs and symptoms of Sickle Cell Anemia, such as painful joints, chest pain, and kidney problems (Wethers, 2000). Individuals with hemoglobin C disease inherit the S gene from one parent and a C gene from another. This means that they also show all the signs and symptoms of Sickle Cell Anemia (Wethers, 2000) In studies, it was shown that no normal hemoglobin (hemoglobin A) are produced by either one of the patients who has anyone of the forms of the disease (Wethers, 2000)

With individuals born with sickle cell Beta-Thalassemias, the Beta [sup A] gene has mutated, and they are unable to produce the normal Beta [sup A] globin chain (Beta [sup b]) or a reduction in it s production (Beta [sup +]) (Wethers, 2000) This adult or child with Beta-Thalassemias inherited the S gene from one parent and the Beta-Thalassemia gene from the other. Like the others, this person will show the signs and symptoms of Sickle Cell Anemia. People with the Sickle Cell trait, which is the carrier form of this disease, will have more than 50 percent normal hemoglobin. They are asymptomatic (Wethers, 2000) Because Sickle Cell Anemia is genetic and inherited, most Blacks, Hispanics, and people of the Mediterranean are very careful about who they marry and have children with. Carriers or people with no history of Sickle Cell disease in their family history are preferred.

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With new advances, the Sickle Cell disease can be diagnosed in newborns and older persons. Test mostly used are DNA (deoxynucleic acid) analysis, which tests the child and parent s phenotype or genetic make-up, and complete blood counts, with counts and tests to see if the amount of blood cells