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Hereditary spherocytosis: Mechanism of hemolysis and pathogenesis

William C Mentzer, MD
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD


Hereditary spherocytosis (HS) is the most common hemolytic anemia due to a red cell membrane defect. This topic will review the determinants of hemolysis and the molecular pathogenesis and genetics of HS. The clinical presentation, diagnosis, and treatment of HS are discussed separately. (See "Hereditary spherocytosis: Clinical features, diagnosis, and treatment".)


Overview — Hereditary spherocytosis (HS) is a result of heterogeneous alterations in genes that encode for proteins involved in the vertical associations that tie the red cell's inner membrane skeleton to its outer lipid bilayer (figure 1). The resistance and elastic deformability of red cells are due to a cytoskeleton that underlies the lipid bilayer and to proteins that provide vertical association of the cytoskeleton with the bilayer. A number of interconnected proteins are involved in the coupling of the cytoskeleton to the lipid bilayer. (See "Red blood cell membrane dynamics and organization".)

Spectrin (composed of alpha, beta heterodimers)


Band 4.2 (previously called pallidin)

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Literature review current through: Nov 2017. | This topic last updated: May 23, 2017.
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