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.
|Number of pages||2|
|Publication status||Published - Sep 2006|
- γ-158 polymorphism
- HbE-540 polymorphism
ASJC Scopus subject areas