Variants
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Elliptocytosis 3

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

13

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Genes

External Links

  • OMIM

    617948

  • Orphanet
  • HPO
  • Medgen

    C1866810

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