Sickle cell disease changes adult beta-globin. Instead of two alpha and two healthy beta chains, sickle cell disease patients have two alpha and two mutant beta chains. The resulting hemoglobin is ...
The causative mutation is the substitution of valine for glutamic acid at the sixth position of the β globin chain (Glu6Val). Sickle cell hemoglobin (HbS) behaves like normal hemoglobin when ...