RELATIONSHIPS BETWEEN BETA THALASSEMIA AND POLYMORPHISM OF BCL11A GENE

Lixiong Zhang*, He Hongping**,Weiwei Qin***,#

*Department of emergency medicine, Hanchuan People’s Hospital, Hubei Province Hanchuan City, China - **Hanchuan center for disease control and prevention, Hubei Province Hanchuan City, China - ***Department of clinical laboratory, Hanchuan People’s Hospital, Hubei Province Hanchuan City, China

Objective: To analyse relationships between beta thalassemia and polymorphism of BCL11A Gene. 

Methods: Fifty-five infantile patients with thalassemia who had visited and were treated in the pediatric department of our hospital from July 2017 to July 2018 were recruited as the observation group, and another 55 normal children excluded from thalassemia by physical examination in our hospital were selected as the control group. Three loci of BCL11A gene of all study subjects were detected, and their gene frequency was calculated. Differences between two groups and correlations between polymorphism of various loci and HbF of fetus were analysed. 

Results: Age and sex of subjects in two groups had no statistical significance (P>0.05), but Hb and HbF levels and HbF percentage of patients in the observation group were significantly higher than those of the normal control group (P<0.01); expected length of amplification of rs1427407, rs766432 and rs11886868 loci in BCL11A gene were 289bp, 178bp and 350bp, respectively, showing successful amplification. Gene distribution of rs1427407 and rs766432 loci in BCL11A gene in the observation group had statistical significance compared with the control group (P>0.05); relevance analysis results showed that rs1427407 and rs766432 in BCLL11A gene were obviously correlated with HbF value (P<0.01), while rs11886868 had no correlations with HbF value (P>0.05). 

Conclusion: BCL11A gene distribution of β-thalassemia is closely correlated with three polymorphism loci, of which rs1427407 and rs766432 loci gene are correlated with HbF level. Mutation of two gene loci may be helpful for improving HbF level.