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Sickle-cell anemia

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Q: In which hereditary disease does abnormal hemoglobin differ from normal hemoglobin by only a single amino acid?
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Sickle cell hemoglobin differs from normal hemoglobin primarily due to a single amino acid substitution in the hemoglobin protein chain. In sickle cell disease, a person inherits two copies of an abnormal hemoglobin gene, usually referred to as HbS. In normal hemoglobin (HbA), the amino acid glutamic acid is present at a specific position in the beta chain of the hemoglobin protein. However, in sickle cell hemoglobin (HbS), this glutamic acid is replaced by valine due to a genetic mutation. This change causes the hemoglobin molecules to stick together under certain conditions, forming long, rigid structures that distort red blood cells into a sickle or crescent shape.


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