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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Stoming, T. A. Articles by Huisman, T. H. Search for Related Content PubMed PubMed Citation Articles by Stoming, T. A. Articles by Huisman, T. H. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  An A gamma type of nondeletional hereditary persistence of fetal hemoglobin with a T----C mutation at position -175 to the cap site of the A gamma globin gene TA Stoming, GS Stoming, KD Lanclos, YJ Fei, C Altay, F Kutlar and TH Huisman Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100. The nondeletional types of hereditary persistence of fetal hemoglobin (ndHPFH) concern the continued synthesis of hemoglobin (Hb) F with either G gamma or A gamma chains in amounts varying from 5% to 30%. Several mutations have been identified in either the A gamma or G gamma promoter which are considered causative to the continued production of one of the two gamma chains because the substitutions occur in sequence motifs essential for the expression characteristics of the gamma-globin gene in the 3' position. We report the discovery of a T----C mutation at position -175 in the A gamma promoter which was associated with a greatly increased level of Hb F (with mainly A gamma) and a decreased level of Hb A in the one (Black) heterozygote who had a beta c gene in trans. The same mutation has been observed in the G gamma promoter of a Black heterozygote who had high levels of Hb F with G gamma 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 gamma promoter. Volume 73, Issue 1, pp. 329-333, 01/01/1989 Copyright © 1989 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L.-R. Liu, Z.-W. Du, H.-L. Zhao, X.-L. Liu, X.-D. Huang, J. Shen, L.-M. Ju, F.-D. Fang, and J.-W. Zhang T to C Substitution at -175 or -173 of the {gamma}-Globin Promoter Affects GATA-1 and Oct-1 Binding in Vitro Differently but Can Independently Reproduce the Hereditary Persistence of Fetal Hemoglobin Phenotype in Transgenic Mice J. Biol. Chem., March 4, 2005; 280(9): 7452 - 7459. [Abstract] [Full Text] [PDF]

	Copyright © 1989 by American Society of Hematology         Online ISSN: 1528-0020