The greekaγβ+‐hpfh observed in a large black family

H. J. Huang, T. A. Stoming, H. F. Harris, F. Kutlar, T. H.J. Huisman

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9 Scopus citations


Several members of a Black family with a heterozygosity for an AγGβ+‐HPFH, shown in 1969 to have relatively low levels of Hb F and a low glycine to alanine ratio in the γ chain of this Hb F, were reinvestigated. Thirteen of 30 available family members in two generations had the heterozygous form of this condition, which was characterized by a decreased level of Hb A2, an average Hb FAD value of 13.3%, an equal distribution of Hb F over the red cells, and normal hematological values. The γ chain composition of isolated Hb F was determined by reversed phase high performance liquid chromatography for all 13 heterozygotes and showed an average Aγ value of 84.5 %. Hybridization with synthetic oligonucleotides, specific for normal and mutant sequences at positions 111–129 5′ to the Aγ globin gene, identified a G ± A base substitution at position 117, similar to that seen in subjects with the Greek Aγ‐HPFH. Our data support conclusions by others [15,16,30] that this replacement is causative of the increased Aγ chain synthesis in this condition. Haplotype analysis supported the suggestion that the G ± A substitution occurred as an independent event in this Black family.

Original languageEnglish (US)
Pages (from-to)401-408
Number of pages8
JournalAmerican Journal of Hematology
Issue number4
StatePublished - Aug 1987


  • Greek γβ‐HPFH
  • haplotypes
  • synthetic oligonucleotides
  • γ to γ ratio
  • γ‐HPFH

ASJC Scopus subject areas

  • Hematology


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