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GTR Home > Conditions/Phenotypes > Pyropoikilocytosis, hereditary

Pyropoikilocytosis, hereditary

Synonyms
Pyropoikilocytosis

Summary

Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EL2, HPP, HS3, SPH3, SPTA, SPTA1
    Summary: spectrin alpha, erythrocytic 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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