Sickle Cell Disease Essay

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Sickle Cell Disease is a genetic disease caused by a SNP (Single Nucleotide Polymorphism). Which means it is caused by a single letter gene mutation. Through the advent of CRISPR/Cas9 the disease might be cured. It is a serious reality and will enter medical trials within a handful of years. Sickle Cell Disease is an inherited disease that predominantly affects people of African descent. Red Blood cells become rigid and sickle shaped, causing blockages and pain crises. In cases of Sickle Cell Disease the Beta-Globin are mutated causing faulty and deformed Hemoglobin proteins thus creating sickled and short-lived Red Blood Cells. Symptoms Include anemia, pain crises, and stunted growth. Anemia is caused because sickled cells die much more frequently, …show more content…

The shortage of healthy blood cells make it difficult to move essential nutrients as well as oxygen throughout the body. This delays growth and puberty in children afflicted with Sickle Cell Disease. The result is stunted growth in adolescents. It is also possible for the hands and feet of someone with Sickle Cell Disease to become enlarged and painful. This is caused by sickle shaped blood cell blocking blood flow to the hands and feet. Another symptom of Sickle Cell Disease is an increased amount of infections. The explanation of this is that Sickle Cell Disease is very hard on one’s spleen. The Spleen is a organ that cleans the body’s blood of unwanted bacteria and anything else not wanted. But because sickled cells are transported there on mass, they often get stuck in the Spleen. The Spleen then becomes enlarged and painful. This is called a splenic sequestration. This usually can be remedied by a blood but it is also common to remove the Spleen …show more content…

Sickle Cell Trait hereditary pattern is autosomal recessive. Meaning two copies of Sickle Cell Trait must be present for the disease to be expressed. People who inherited a single copy of Sickle Cell Trait express no disease and live normal lives. Both copies of Sickle Cell Trait cause a SNP mutation in the Hemoglobin Beta Gene, located on chromosome 11q15. A single thymine molecule gets replaced by a adenine molecule. This single molecule mutation causes the person to produce mutated Beta-Globin. Beta-Globin is an essential piece of of the protein Hemoglobin, a single Hemoglobin protein is comprised of two Beta-Globins and two Alpha

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