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GENATLAS PHENOTYPE
last update : 12/12/2008
Symbol SICA
Location 11p15.4
Name sickle cell anemia (drepanocytosis)
Corresponding gene HBB
Other symbol(s) SCA
Main clinical features
  • cough, night sweats, vague pains in the legs and joints, occasional abdominal pain, poor appetite, and increasing fatigue, frequent cerebral vascular accidents in patients with sickle cell disease
  • functional asplenia during the first year of life and septicemia in childhood, cerebral vascular disease with cerebral infarction, developmental disabilities (increased fetal hemoglobin, HBF associated with reduced risk for complications)
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name hemoglobin, beta
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
        abnormal protein/loss of function modulated by increased level of hemoglobin F (HBF)
    Remark(s) resistance of heterozygotes SA cells to falciparum malaria