Hereditary elliptocytosis: Genetics and pathogenesis
- William C Mentzer, MD
William C Mentzer, MD
- Section Editor — Red Cell Disorders
- Professor of Pediatrics
- University of California, San Francisco
- Section Editors
- Donald H Mahoney, Jr, MD
Donald H Mahoney, Jr, MD
- Section Editor — Pediatric Hematology
- Professor of Pediatrics
- Baylor College of Medicine
- Stanley L Schrier, MD
Stanley L Schrier, MD
- Editor-in-Chief — Hematology
- Section Editor — Myeloproliferative Disorders; Red Cell Disorders
- Professor of Medicine
- Stanford University School of Medicine
- Benjamin A Raby, MD, MPH
Benjamin A Raby, MD, MPH
- Section Editor — Genetics
- Associate Professor of Medicine
- Harvard Medical School
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)
●Band 4.2 (previously called pallidin)
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