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

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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
StatePublished - Jan 1 1989

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ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Stoming, T. A., Stoming, G. S., Lanclos, K. D., Fei, Y. J., Altay, C., Kutlar, F., & Huisman, T. H. J. (1989). 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. Blood, 73(1), 329-333.