" /> Pyropoikilocytosis, hereditary - CISMeF





Preferred Label : Pyropoikilocytosis, hereditary;

Symbol : HPP;

CISMeF acronym : HPP;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal recessive;

Prefixed ID : #266140;

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27/07/2025


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