Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28015
Title: Developmental effect of the XmnI site on Gγ-globin gene expression among newborn Hb F-Malta-I [Gγ117 (G19) His→ Arg, CAT→ CGT] heterozygotes and adult β+-thalassemia homozygotes
Authors: Pulis, Svetlana
Scerri, Christian A.
Schembri Wismayer, Pierre
Galdies, Ruth
Bezzina Wettinger, Stephanie
Felice, Alex E.
Keywords: Heterozygote
Hemoglobin -- Malta
Haplotypes
Beta-Thalassemia
Issue Date: 2007
Publisher: Taylor & Francis
Citation: Pulis, S., Scerri, C. A., Schembri Wismayer, P., Galdies, R., Bezzina Wettinger, S., & Felice, A. E. (2007). Developmental effect of the XmnI site on Gγ-globin gene expression among newborn Hb F-Malta-I [Gγ117 (G19) His→ Arg, CAT→ CGT] heterozygotes and adult β+-thalassemia homozygotes. Hemoglobin, 31(1), 71-82.
Abstract: Hb F-Malta-I [Gγ117(19)His→Arg, CAT→CGT] is a stable and benign variant of Hb F found in 1.8% of Maltese newborn. We studied 120 Hb F-Malta-I heterozygotes and four Hb F-Malta-I homozygotes. The mean proportion of Gγ-F-Malta-I in Hb F was 0.26 ± 0.03 for the Hb F-Malta-I heterozygotes and 0.58 ± 0.06 for the Hb F-Malta-I homozygotes. The Hb F-Malta-I allele was shown to occur on a background of the common Mediterranean haplotype Va [+ + - - - - - + + -]. Furthermore, the common Mediterranean haplotypes Va, IIIb [- + + + - + + + + -], I [+ + - - - - - + + +] and II [- + - + + - + + + +] accounted for most (66.2%) of the wild-type alleles among the tested Hb F-Malta-I heterozygotes. Different genotypes at the 5′ ε HincII, Gγ and Aγ HindIII, and 3′ψβ HincII sites (but not at the 5′ Gγ XmnI site) were found to be linked to significant variations in the proportion of Gγ-F-Malta-I and Gγ-globins in the Hb F of newborn Hb F-Malta-I heterozygotes. Moreover, the 5′ Gγ XmnI site was found to be associated with variations in Hb F and Gγ-globin levels in a population of adult Maltese β-thalassemia (thal) homozygotes. This implies that a determinant linked to the XmnI site which effects Gγ-globin gene expression is active in anemic adults but not in normal infants.
URI: https://www.um.edu.mt/library/oar//handle/123456789/28015
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