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Hereditary elliptocytosis: Genetics and pathogenesis

Author
William C Mentzer, MD
Section Editors
Donald H Mahoney, Jr, MD
Stanley L Schrier, MD
Benjamin A Raby, MD, MPH
Deputy Editor
Jennifer S Tirnauer, MD

INTRODUCTION

Hereditary elliptocytosis (HE) is a heterogeneous group of inherited erythrocyte disorders that have in common the presence of elongated, oval, or elliptically shaped red blood cells (RBCs) on the peripheral blood smear (picture 1). Most forms of HE are transmitted as an autosomal dominant trait with the major exception of hereditary pyropoikilocytosis, which may be transmitted in an autosomal recessive fashion. The molecular biology, pathophysiology, and possible role in resistance to malaria will be reviewed here. The clinical features, diagnosis, and treatment of this disease are discussed separately. (See "Hereditary elliptocytosis: Clinical features, diagnosis, and treatment".)

MOLECULAR PATHOGENESIS AND GENETICS

The resistance and elastic deformability of red blood cells (RBCs) are due to a cytoskeleton that laminates the lipid bilayer and to proteins that provide vertical association of the cytoskeleton with the bilayer. Five interconnected proteins are involved in the coupling of the cytoskeleton to the lipid bilayer (figure 1). (See "Red blood cell membrane dynamics and organization".)

Spectrin (composed of alpha, beta heterodimers)

Ankyrin

Band 4.2 (previously called pallidin)

         

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Literature review current through: Nov 2016. | This topic last updated: Thu Aug 25 00:00:00 GMT+00:00 2016.
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