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Sickle Cell Anemia - Essay Example

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Sickle Cell Anemia Sickle cell anemia is a genetic disease which is inherited, and can be passed down several generations through both the parents. The term ‘sickle cell’ comes from the sickle shaped or crescent shaped form of the hemoglobin molecules…
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Sickle Cell Anemia
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Therefore the patient contains faulty hemoglobin in the red blood cells, which causes the cells to become deformed and sickled when oxygen levels in the blood get low. In this sickled form the red blood cells are less efficient in transporting oxygen and are more likely to stick in blood capillaries preventing the blood flow. This mutation causes the shape of the hemoglobin molecule, present in the blood, to change, preventing it from carrying oxygen around the body. Various organs are deprived of the oxygen molecule inhibiting them from performing their basic anabolic and catabolic functions, and hence causing them to wear out. These sickle shaped hemoglobin molecules cause the blood to become stick and the floe becomes irregular. Under normal conditions, hemoglobin cells are donut shaped, and can flow easily with the blood, in arteries and capillaries. They are flexible and hence can squeeze in and out of capillaries. But sickle shaped hemoglobin molecules are rigid and tend to get stuck in the arteries, causing the blood flow to become restricted. (Bjorklund) Human beings contain 23 chromosomes inside the nucleus of a cell, and these chromosomes contain all the genetic material responsible for their characteristics. A single unit of DNA is known as a gene. Genes contain the information required to synthesize proteins, and these proteins are accountable for our traits. These genes contain a sequence of nucleotides which dictate the sequence of the corresponding amino acids, that are linked together to form polypeptide chains and hence, proteins. Mutations occur when there is a change in this sequence, and the results could be very harmful as this change in the order of nucleotides, could change the structure and function of a protein completely. There are many types of mutations and they could either be beneficial or harmful. This type of mutation is an example of a point mutation or a missense mutation, and is obviously extremely harmful, if the gene occurs in a homozygotic form. It occurs in the beta globin gene (HBB) which is present in the 11th chromosome. The HBB gene is responsible for normal blood production. The point mutation causes the beta hemoglobin molecule to convert the GAG codon into a GUG codon by transcription i.e. it encodes the amino acid valine rather than the seventh amino acid, glutamic acid. Valine is hydrophobic (water hating) causing the hemoglobin molecule to bend inwards, causing it to become sickle shaped. There are no other changes in the structure. (Eldra Solomon) Sequence for Normal Hemoglobin ATG GTG CAC CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT START Val His Leu Thr Pro Glu Glu Lys Ser Ala Val Thr Sequence for Sickle Cell Hemoglobin ATG GTG CAC CTG ACT CCT GTG GAG AAG TCT GCC GTT ACT START Val His Leu Thr Pro Val Glu Lys Ser Ala Val Thr This sickle cell gene mutation is mostly common in African people or people from the Middle East. Not everyone carrying the gene could be affected severely by sickle cell anemia. Each gene has different versions called alleles. A person carrying one allele for sickle cells, but one for normal cells is said to be heterozygous or a carrier of sickling hemoglobin. The problems of sickling, clotting and blockage could be minor and controlled if certain precautions are taken. In most cases, carriers only show symptoms of sickle cell disease if they deprived of oxygen, such as during extreme exertion or going to areas Read More
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