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GENATLAS PHENOTYPE
last update : 24/03/2009
Symbol EL2
Location 1q23.1
Name hereditary elliptocytosis, type 2
Corresponding gene SPTA1
Other symbol(s) HE
Main clinical features
  • elliptically shaped erythrocytes and a variable degree of hemolytic anemia
    • Genetic determination
    Function/system disorder hematology
    Type disease
    Gene product
    Name spectrin, alpha, erythrocytic 1 (SPTA1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     in the amino-terminal region involved in dimer-dimer interaction
    various types      
    Remark(s) mutations in alpha spectrin are the most common cause of HE in ~65 percent and in beta-spectrin in ~30 percent of the cases
    Genotype/Phenotype correlations patients homozygous for Arg28His mutation have severe haemolytic anemia