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Sickle cell anemia results from a mutation in a gene called HBB, which contains the blueprint for cells to make part of a protein called hemoglobin. The hemoglobin protein is made up of two alpha chains and two beta chains.
Sickle cell anemia is the result of a point mutation, a change in just one nucleotide in the gene for hemoglobin. This mutation causes the hemoglobin in red blood cells to distort to a sickle shape when deoxygenated. The sickle-shaped blood cells clog in the capillaries, cutting off circulation.