Hereditary pyropoikilocytosis

Spectrin forms an integral part of the erythrocyte cytoskeletal architecture any defects that disrupt the association of the spectrin heterotetra-mer or the interaction with any of the other submembranous proteins can result in RBC defects (reviewed in Hassoun and Palek, 1996). Indeed, abnormalities of the /3-spectrin N-terminus and the a-spectrin G-terminus affect the self-association site and result in hereditary elliptocytosis and hereditary pyropoikilocytosis (Delaunay, 1995 Delaunay and Dhermy, 1993 Palek and Jarolim, 1993). 

Other experiments with erythrocytes also confirm the interaction of protein and lipids. In patients with hereditary pyropoikilocytosis the spectrin dimers cannot associate into the normal tetramers and this gives rise to enhanced thermosensitivity of the cytoskeleton. The cells also have an... 

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