Interaction of the alpha alpha alpha globin gene haplotype and sickle haemoglobin

Br J Haematol. 1984 Aug;57(4):671-8.


We have studied the interaction of the alpha alpha alpha/alpha alpha gene arrangement with various beta globin genotypes (AA, AS, AC, SS and SC). Whereas this interaction has no detectable clinical or haematological effects in subjects with AA, SS or SC genotypes it is associated with a significantly increased level of Hb S or Hb C in heterozygotes for these variants. These findings indicate that the additional alpha globin gene in the alpha alpha alpha gene arrangement is functional.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / blood
  • Anemia, Sickle Cell / genetics
  • Child
  • Chromosome Mapping
  • DNA Restriction Enzymes
  • Female
  • Genotype
  • Globins / genetics*
  • Hemoglobin C / analysis
  • Hemoglobin SC Disease / blood
  • Hemoglobin SC Disease / genetics
  • Hemoglobin, Sickle* / analysis
  • Heterozygote
  • Homozygote
  • Humans
  • Male


  • Hemoglobin, Sickle
  • Globins
  • Hemoglobin C
  • DNA Restriction Enzymes