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

Valentina Guida, Mara Pia Cappabianca, Alessia Colosimo, Francesca Rafanelli, Antonio Amato, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

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

Original languageEnglish
Pages (from-to)1275-1276
Number of pages2
JournalHaematologica
Volume91
Issue number9
Publication statusPublished - Sep 2006

Keywords

  • β-thalassemia
  • γ-158 polymorphism
  • HbE-540 polymorphism

ASJC Scopus subject areas

  • Hematology

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