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Case Study Of Sickle Cell Disease

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5. Case studies Mutations are more common than we think. We see them everyday and fail to perceive them as mutations. For example, colour blindness is the result of gene mutations in men. The gene is only present on the X chromosome. Thus, only one X chromosome is needed to induce the condition. However in women, two affected X chromosome are needed for the gene to be expressed. Ten million men have colour blindness in America, while only 600,000 women have colour blindness. Sickle cell disease is an acquired blood issue that influences about 100,000 individuals in the United States. Red platelets contain hemoglobin, a protein that conveys oxygen in the blood. Ordinary red platelets are round and adaptable, which empowers them to go through little veins to convey oxygen to all parts of the body. Sickle cell anemia causes red platelets to frame into a bow shape, similar to a sickle. The sickle-formed red platelets break apart effortlessly, bringing about iron deficiency. Sickle red platelets live just 10-20 days rather than the typical 120 days. The harmed sickle red platelets bunch together and adhere to the dividers of veins, blocking blood stream. This can bring about …show more content…

The CCR5Δ32 mutation is where a certain protein that sits on the surface of one’s cells is missing a small segment. Because of this deletion, the HIV is unable to attach and enter one’s cells. Individuals with one copy of this gene are resistant to AIDS and those with two copies of this mutation are completely immune to HIV-1. This mutation also makes people resistant to plague and smallpox. However, since the normal version of this gene helps people resist infection by the West Nile virus, the same people who have resistance to HIV and AIDS are also have a higher risk of being infected by the West Nile virus and contracting encephalitis as a

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