Mutation Flashcards
1
Q
sickle-cell anemia
A
Sickle-cell anemia caused by gene substitution . Amino acid valine replaces glutamic acid at a single position in the protein (B-strand) . This causes missense mutation . Abnormal Hb which Sickle (S) shape and Hb-S is stiff and tend to accumulate in the capillaries . Hb is not efficient in transporting oxygen . Patient suffer from anemia .