An (A)γ type of nondeletional hereditary persistence of fetal hemoglobin with a T → C mutation at position -175 to the cap site of the (A)γ globin gene

T. A. Stoming, G. S. Stoming, K. D. Lanclos, Y. J. Fei, C. Altay, F. Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

The nondeletional types of hereditary persistence of fetal hemoglobin (ndHPFH) concern the continued synthesis of hemoglobin (Hb) F with either (G)γ or (A)γ chains in amounts varying from 5% to 30%. Several mutations have been identified in either the (A)γ or (G)γ promoter which are considered causative to the continued production of one of the two γ chains because the substitutions occur in sequence motifs essential for the expression characteristics of the γ-globin gene in the 3' position. We report the discovery of a T → C mutation at position -175 in the (A)γ promoter which was associated with a greatly increased level of Hb F (with mainly (A)γ) and a decreased level of Hb A in the one (Black) heterozygote who had a β(c) gene in trans. The same mutation has been observed in the (G)γ promoter of a Black heterozygote who had high levels of Hb F with (G)γ chains only. A detailed comparison between these two individuals indicated significant differences in the levels of Hb F and Hb A which may result from an additional mutation at position -158 in the (G)γ promoter.

Original languageEnglish (US)
Pages (from-to)329-333
Number of pages5
JournalBlood
Volume73
Issue number1
DOIs
StatePublished - 1989

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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