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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol HPP
Location 1q23.1
Name hereditary, pyropoikilocytosis
Corresponding gene SPTA1
Main clinical features
  • characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells
  • Genetic determination
    Function/system disorder hematology
    Type disease
    Gene product
    Name spectrin, alpha, erythrocytic 1 (SPTA1), including spectrin St Claude
    Remark(s)