Disease or Syndrome
pyropoikilocytosis
Definitions related to hereditary pyropoikilocytosis:
  • (pyropoikilocytosis) A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2025
  • An autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. It manifests as a severe hemolytic anemia in infancy with thermal instability of the erythrocytes. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis.
    NICHD Pediatric Terminology
    U.S. National Cancer Institute, 2021
  • An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.
    NCI
    U.S. National Cancer Institute, 2021
  • Hereditary pyropoikilocytosis is a severe form of congenital hemolytic anemia. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis.
    Medscape
    WebMD, 2025
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