Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects

Haematologica. 2006 Sep;91(9):1275-6.

Abstract

Clinical manifestations of beta-thalassemia (beta-thal) intermedia phenotypes are influenced by the persistence of fetal hemoglobin (HbF) and by several polymorphisms located in the promoters of A- and beta-globin genes. The aim of this study was to evaluate the distribution of the -158Ggamma (C-->T) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with elevated levels of HbF in 188 beta-thal carriers and 229 wild-type individuals of Italian descent. The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fetal Hemoglobin / analysis*
  • Fetal Hemoglobin / genetics
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Italy / epidemiology
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • Fetal Hemoglobin