RBC membrane protein abnormalities and sites of the responsible gene mutations in hereditary spherocytosis, hereditary elliptocytosis, and hereditary pyropoikilocytosis

(A) The domain structure of these proteins is shown, with positions of known mutations causing HS and HE/HPP indicated beneath each protein.
(B) The structure of the spectrin tetramer is shown, illustrating the triple helical coiled-coil repeats of the spectrin peptides, the head-to-head spectrin self-association sites, and the nucleation sites that initiate the side-to-side interaction between alpha- and beta-spectrin chains.