Hereditary elliptocytosis: Clinical features, diagnosis, and treatment
- 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 Blood Cell Disorders
- Professor of Medicine
- Stanford University School of Medicine
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".)
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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- CLINICAL SYNDROMES
- Silent carrier
- Common hereditary elliptocytosis
- - Influence of extrinsic factors
- Neonatal period
- Disease-related alterations
- Hereditary pyropoikilocytosis
- Spherocytic elliptocytosis
- Southeast Asian ovalocytosis
- MAKING THE DIAGNOSIS
- When to suspect the diagnosis of HE
- Initial laboratory testing
- Ancillary laboratory testing
- Molecular diagnosis
- DIFFERENTIAL DIAGNOSIS
- Routine and supportive care
- FAMILY TESTING AND PRENATAL COUNSELING
- SOCIETY GUIDELINE LINKS
- SUMMARY AND RECOMMENDATIONS