Partial Ankyrin and Spectrin Deficiency in Severe, Atypical Hereditary Spherocytosis

Abstract

HEREDITARY spherocytosis is a common form of hemolytic anemia that is heterogeneous in terms of its clinical presentation, molecular basis, and inheritance.1 The primary defect is thought to reside in the red-cell membrane skeleton, a submembranous network composed mainly of spectrin, actin, and proteins that migrate on gel electrophoresis as bands 4.1 and 4.9 (proteins 4.1 and 4.9).2 Visualization of the skeleton by electron microscopy has revealed a primarily hexagonal lattice of fibers of spectrin tetramers linked to junctional complexes containing actin and proteins 4.1 and 4.9.3 4 5 The skeleton is attached to the membrane by ankyrin (protein 2.1), which connects . . .