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GENATLAS PHENOTYPE
last update : 13-01-2010
Symbol HPFH
Location 11p15.4
Name hereditary persistence of fetal hemoglobin
Corresponding gene HBG1
Main clinical features
  • maintaining expression of fetal hemoglobin during adult erythropoiesis, abnormal hemoglobin, pancellular, uniformly distributed, involving the promoter region of gamma genes, including the binding site of GATA1
    • Genetic determination autosomal dominant
    Function/system disorder metabolism/porphyrin and heme
    Type disease
    Gene product
    Name hemoglobin non-alpha cluster (HB-NA@)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     involving single base changes at -202, -196, -158, or -117 of either the A-gamma or G-gamma chain
    Remark(s) T >C point mutation at position -198 HBG1 gene promoter results in 4-10% fetal hemoglobin in heterozygotes