SEARCH:   Advanced

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 Dimovski, A. Articles by Huisman, T. Search for Related Content PubMed PubMed Citation Articles by Dimovski, A. Articles by Huisman, T. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3'HS-1 regulatory sequence: beta zero- thalassemia or hereditary persistence of fetal hemoglobin? AJ Dimovski, V Divoky, AD Adekile, E Baysal, JB Wilson, JF Prior, JL Raven and TH Huisman Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-2100. A novel deletion of approximately 27 kb with the 5' breakpoint 1.5 to 2.2 kb upstream of the beta-globin gene, and the 3' breakpoint approximately 24 kb downstream of the beta-globin gene, has been found in five members of two families from Southeast Asia (Vietnam and Cambodia). Six members of another family from China, previously reported from our laboratory, have also been shown to carry this deletion. The patients presented with mild hypochromia and microcytosis, a hemoglobin (Hb) A2 level of approximately 4.0%, and a markedly increased, heterocellularly distributed, Hb F level (14.0 to 26.0%). In vitro globin-chain synthesis showed a mild imbalance with appreciable gamma-chain compensation (alpha/beta + gamma ratio of 1.46). The 3' end of this deletion includes the 3'HS-1, and we hypothesize that removal of this region results in the loss of its gamma-globin gene-silencing effect, which causes a markedly elevated Hb F level with a modest increase in Hb A2 levels, unlike the situation in other deletional beta zero-thalassemias. The possible influence of particular sequence variations in the locus control region 5'HS-2 and the G gamma promoter, present on the chromosome with this deletion, on the overall gamma-globin gene should also be considered. Volume 83, Issue 3, pp. 822-827, 02/01/1994 Copyright © 1994 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: C L Harteveld, A Voskamp, M Phylipsen, N Akkermans, J T den Dunnen, S J White, and P C Giordano Nine unknown rearrangements in 16p13.3 and 11p15.4 causing {alpha}- and {beta}-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification J. Med. Genet., December 1, 2005; 42(12): 922 - 931. [Abstract] [Full Text] [PDF]

	Copyright © 1994 by American Society of Hematology         Online ISSN: 1528-0020