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GENATLAS PHENOTYPE
last update : 01/07/2008
Symbol ATHAL
Location 16p13.3
Name thalassemia, alpha
Corresponding gene HBA1 , HBA2
Other symbol(s) LCRA
Main clinical features number of normal alpha genes (3, 2, 1 or none) results in 4 different alpha-thalassemia syndromes three normal alpha genes gives a silent carrier state
  • two normal alpha genes results in microcytosis (so-called heterozygous alpha-thalassemia)
  • one normal alpha gene results in microcytosis and hemolysis (so-called Hb H disease)
  • no normal alpha gene results in 'homozygous alpha-thalassemia' manifested as fatal hydrops fetalis
    • Genetic determination autosomal recessive
    Related entries ATR16; erythremia alpha, thalassemia alpha, Heinz body anemia alpha, methemoglobinemia
    Function/system disorder hematology
    Type disease
    Remark(s)
    Genotype/Phenotype correlations alpha Hb cluster may be part of a contiguous gene syndrome associated with mental retardation (ATR16)