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GTR Home > Conditions/Phenotypes > Elliptocytosis 3

Elliptocytosis 3

Summary

Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997). For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EL3, HS2, HSPTB1, SPH2, SPTB
    Summary: spectrin beta, erythrocytic

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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