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Hereditary elliptocytosis and related disorders

William C Mentzer, MD
Section Editors
Donald H Mahoney, Jr, MD
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD


Hereditary elliptocytosis (HE), also called hereditary ovalocytosis, is a heterogeneous group of inherited red blood cell (RBC) disorders characterized by the presence of elongated, oval, or elliptically shaped RBCs on the peripheral blood smear. Hemolytic anemia in these disorders ranges from absent to life-threatening.

This topic review will discuss the genetics, pathogenesis, clinical features, diagnosis, and management of HE syndromes, including common HE, hereditary pyropoikilocytosis (HPP), Southeast Asian ovalocytosis (SAO), and spherocytic elliptocytosis (SE).

Separate topic reviews present more general discussions regarding the approach to the patient with anemia or hemolytic anemia, as well as other inherited RBC membrane/cytoskeletal disorders such as hereditary spherocytosis (HS) and hereditary stomatocytosis (HSt):

General approach and hemolytic anemias (child) – (see "Approach to the child with anemia" and "Overview of hemolytic anemias in children")

General approach and hemolytic anemias (adult) – (see "Approach to the adult patient with anemia" and "Diagnosis of hemolytic anemia in the adult")

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Literature review current through: Nov 2017. | This topic last updated: Aug 28, 2017.
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