Partial Ankyrin and Spectrin Deficiency in Severe, Atypical Hereditary Spherocytosis

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 . . .