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.
Liu
Rong Rong
RR
Wang
Ming Yue
MY
Lai
Yong Rong
YR
D005319:Fetal Hemoglobin / Q000032:analysis; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
D006446:Hemoglobin E; D005319:Fetal Hemoglobin
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