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.
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.
Guida
Valentina
V
Cappabianca
Mara Pia
MP
Colosimo
Alessia
A
Rafanelli
Francesca
F
Amato
Antonio
A
Dallapiccola
Bruno
B
D005319:Fetal Hemoglobin / Q000032:analysis* / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin