Answer:
Sickle cell disease is caused by a specific type of genetic mutation known as a point mutation. More specifically, it is a point mutation that affects the beta-globin gene, which is responsible for producing a protein called hemoglobin that is found in red blood cells and carries oxygen throughout the body.
In sickle cell disease, a single nucleotide base in the beta-globin gene is changed, resulting in the substitution of one amino acid (valine) for another (glutamic acid) in the hemoglobin protein. This small change in the protein structure causes the hemoglobin molecules to stick together under certain conditions, forming long, rigid structures that cause the red blood cells to become deformed and assume a sickle shape. These sickle-shaped cells are less flexible and can get stuck in small blood vessels, leading to reduced blood flow and oxygen delivery to tissues and organs.
This mutation is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated beta-globin gene (one from each parent) to develop sickle cell disease. A person who inherits only one copy of the mutated gene is said to have sickle cell trait, which usually does not cause symptoms but can increase the risk of certain health problems, especially under conditions of low oxygen (e.g., high altitude, strenuous exercise).
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