A New Hemoglobin Variant with Sickling Properties

Abstract

THE red-cell sickling tendency of certain persons has long been a matter of great interest. Study of this problem by Pauling and his associates¹ led to the suggestion of a genetic change in hemoglobin formation that resulted in synthesis of different globin fractions for normal and sickle-cell hemoglobin. Subsequent investigation by Ingram² has shown the specific globin abnormality to be a single amino acid substitution, valine for glutamic acid, in each identical half hemoglobin molecule containing approximately 300 amino acids. Sickle-cell anemia thus became the first example of a molecular disease in which the product of gene mutation was characterized . . .