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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-03-2009
Symbol SPH4
Location 17q21-q22
Name hereditary spherocytosis, type V
Other name(s) erythroid protein band 3 deficiency
Corresponding gene SLC4A1
Other symbol(s) EPB3
Main clinical features
  • haemolytic anemia of variable severity
  • mushroom-shaped or "pincered" red cells in addition to spherocytes
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name erythroid anion exchange protein, band 3 (EPB3, SLC4A1)
    Remark(s) 15-20 percent of HS cases