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Protein Folding 09: Sickle Cell Disease

Sickle cell disease affects ~70,000 to 100,000 people in the United States, and ~10 million worldwide. The disease was first described by James B. Herrick [Herrick 1910]. The molecular basis was partly elucidated by Linus Pauling and Ibert C. Wells [Pauling 1949], and the exact causal amino acid substitution (E6V) was later identified by V.M. Ingram [Ingram 1956]. This missense variant causes hemoglobin to form long polymers which deform red blood cells into a “sickle” shape.