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GENATLAS PHENOTYPE
last update : 30/09/2005
Symbol SPH1
Location 8p11.21
Name hereditary spherocytosis, type II
Corresponding gene ANK1
Other symbol(s) HS
Main clinical features
  • haemolytic anemia of variable severity, moderate in ~60 percent of cases, severe life-threatening anemia in 3-5 percent
  • prominent spherocytosis
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name ankyrin, erythroid (ANK1), links beta-spectrin to band 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     in the promoter altering gene expression, transcription initiation and TF2D complex formation
    various types      
    Remark(s) Ankyrin defect in 50-60 percent of HS cases innorthern european populations, and in 5-10 percent in japan