[Hereditary diseases of the human erythrocyte membrane skeleton (author's transl)]

Abstract

The shape and, to some extent, the deformability of the human erythrocyte are dependent upon a proteinic cytoskeleton arranged as a net on the inner side of the membrane. The meshes of the net are composed of spectrin, a fibrillar protein, and the knots of protofilaments of actin and of a protein called 4.1 from its position a electrophoresis. The cytoskeleton is attached to the other proteins and lipids of the membrane, and on its stability depends that of the whole red cell. Several abnormalities of this formation, involving the structure and/or functions of spectrin and protein 4.1, have recently be detected by new techniques. These techniques have shown that different molecular disorders may results in spherical or elliptical erythrocytes, thereby demonstrating the heterogeneous biochemistry of inherited spherocytes and elliptocytes.