Sickle-cell disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Causes

The cause of sickle cell disease is based on a point mutation (glutamic acid to valine) at the 6th position of the beta-globin chain of hemoglobin. This amino acid substitution results in increased hydrophobic interactions, causing a sickled shape of red blood cells.