Sickle Cell Disease — New Treatments, New Questions

The history of sickle cell disease shows how tortuous the road can be from the discovery of the mechanism of a disease to improvement in the care of affected patients. A series of extraordinary scientific achievements began in the 1940s: Pauling established sickle cell anemia as the first molecular disease, Ingram identified the critical amino acid substitution in the β-globin chain, Perutz described the three-dimensional structure of hemoglobin, and Harris recognized the pathologic role of rigid intracellular polymers of hemoglobin S. Meanwhile, patients with sickle cell disease continued to suffer bouts of severe pain, disabling strokes, and fatal infections. Those . . .