Analysis of Gγ-158(C→T) polymorphism in hemoglobin E/β-thalassemia major in Southern China.

Background: The Gγ-158(C→T) polymorphism plays important function in the clinical variability of HbE/β-thalassemia. There is little known about Gγ-158(C→T) polymorphism in HbE/β-thalassemia major in Southern China. This study aimed to explore the association between HbE/β-thalassemia major and this polymorphism in Southern China.

Results: The frequency of the Gγ-158(C→T) polymorphism has been evaluated in 32 patients with HbE/β-thalassemia major from Southern China. Further analysis of the Gγ-158(C→T) polymorphism revealed the prominent frequency of this polymorphic pattern among HbE/β-thalassemia major patients (65.63%). The presence of this polymorphism was strongly correlated with the increase of HbF synthesis.

Conclusions: The frequency of the Gγ-158(C→T) polymorphism was relatively high in Southern Chinese patients with HbE/β-thalassemia major, often accompanying with high production of HbF. This feature appears to be different with reports in other races and regions.