Sickle cell anemia is a hereditary disease characterized by a single amino acid substitution in hemoglobin, causing red blood cells to take on a sickle shape, leading to health issues.
Sickle cell anemia is the hereditary disease where abnormal hemoglobin molecules differ from normal hemoglobin molecules by only a single amino acid. This single amino acid substitution causes the hemoglobin molecules to form long fibers, distorting red blood cells into a crescent or 'sickle' shape, leading to various health problems.
The specific amino acid change in sickle cell anemia is from glutamate to valine at position six in the beta chain of hemoglobin. This mutation affects the structure and function of the hemoglobin, impacting oxygen delivery and leading to the characteristic sickle cell shape of red blood cells.
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