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HISTOPATHOLOGY-101
SICKLE CELL DISEASE results from a POINT MUTATION in the beta-globin gene. What amino acid substitution produces HbS?
A. Lysine replaces Valine at position 6 of beta-globin
B. Valine replaces GLUTAMIC ACID at position 6 of beta-globin (GAG → GTG codon change)
C. Glutamic acid replaces histidine at position 63 of alpha-globin
D. Any amino acid substitution at the alpha-globin chain produces HbS
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