What is the term for the abnormal hemoglobin variant characterized by a point mutation in the beta-globin gene, resulting in the substitution of glutamic acid with valine at position 6?
Explanation
The point mutation in the beta-globin gene results in the production of abnormal hemoglobin S, which polymerizes under low oxygen conditions, leading to sickling of red blood cells.
Source
Robbins and Cotran Pathologic Basis of Disease