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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol HHST2
Location 17q21
Name hereditary hydrocytosis 2
Other name(s) overhydrated hereditary stomatocytosis 2
Corresponding gene SLC4A1
Other symbol(s) OHST2
Main clinical features
  • elliptocytosis (or ovalocytosis) with hemolytic anemia, decreased osmotic fragility, increase in intracellular sodium, and marked increase in sodium pump rates
    • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutation S731P mostly frequent