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Hereditary elliptocytosis: Clinical features, diagnosis, and treatment

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

INTRODUCTION

Hereditary elliptocytosis (HE), also called hereditary ovalocytosis, is a heterogeneous group of inherited erythrocyte disorders, most of which are autosomal dominant, that have in common the presence of elongated, oval, or elliptically shaped red blood cells (RBCs) on the peripheral blood smear. Hemolytic anemia in these disorders ranges from absent to life-threatening. Severe hemolysis is usually a consequence of homozygosity or compound heterozygosity for one or more of the various membrane protein mutations associated with this disorder.

The clinical features, diagnosis, and treatment of HE will be reviewed here. The genetics, molecular biology, pathophysiology, and possible role in resistance to malaria in HE are discussed separately. (See "Hereditary elliptocytosis: Genetics and pathogenesis".)

General approaches to the child or adult with hemolytic anemia are discussed separately. (See "Overview of hemolytic anemias in children" and "Diagnosis of hemolytic anemia in the adult".)

PREVALENCE

The prevalence of HE in the United States is not greater than 2.5 to 5 per 10,000, although the true incidence is unknown since most patients with HE are either asymptomatic or undiagnosed. However, in regions of Africa and Southeast Asia in which malaria is endemic, HE may affect more than 30 percent of the population [1-3]. (See "Hereditary elliptocytosis: Genetics and pathogenesis", section on 'Resistance to malaria'.)

The hereditary pyropoikilocytosis variant of HE, although rare, is more frequent among African-American individuals, while the spherocytic elliptocytosis variant is seen only in Caucasians.

                    

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Literature review current through: Nov 2016. | This topic last updated: Mon Oct 03 00:00:00 GMT+00:00 2016.
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