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目的探讨重型β地中海贫血患者(thalassemia major,TM)BCL11A表达特点及其与临床表现的关系。方法正常人和TM患者各24例,分离外周血单个核细胞,实时荧光定量聚合酶链反应(quantitative real time polymer-ase chain reaction,qRT-PCR)法检测BCL11A、γ基因mRNA表达水平,同时检测血常规血红蛋白(hemoglobin,Hb)、血红蛋白分析仪检测胎儿血红蛋白(fetal hemoglobin,HbF),并行相关性检验。结果 TM患者的HbF、γmRNA水平显著高于正常人群(13.7%±13.6%vs 0.28%±0.15%,P<0.001;2479%±279%vs 10.61%±0.41%,P<0.001),2组BCL11A基因mRNA水平无统计学差异(0.73%±0.26%vs 0.77%±0.22%,P=0.590)。TM患者中25%(6例)的患者HbF正常,与HbF升高者比较,其γmRNA水平要低(62.10%±16.49%vs 3285.2%±2792.2%,P<0.001),但BCL11A mRNA水平无统计学差异(0.78%±0.21%vs 0.72%±0.28%,P=0.704)。TM患者BCL11A mRNA水平与首次输血年龄无显著相关(r=0.201,P=0.345)。结论 BCL11A不参与TM患者的γ基因的开放和HbF代偿性增加。
Objective To investigate the expression of BCL11A in patients with thalassemia major (TM) and its relationship with clinical manifestations. Methods Twenty-four normal and TM patients were divided into two groups. Peripheral blood mononuclear cells (PBMCs) were isolated. The expression of BCL11A and γ mRNA was detected by quantitative real time polymerase chain reaction (qRT-PCR) Blood hemoglobin (hemoglobin, hemoglobin analyzer, fetal hemoglobin (HbF), parallel correlation test. Results The levels of HbF and γmRNA in TM patients were significantly higher than those in normal controls (13.7% ± 13.6% vs 0.28% ± 0.15%, P <0.001; 2479% ± 279% vs 10.61% ± 0.41%, P <0.001) There was no significant difference in gene mRNA level (0.73% ± 0.26% vs 0.77% ± 0.22%, P = 0.590). HbF was normal in 25% of TM patients (6 cases) and lower in patients with HbF (62.10% ± 16.49% vs 3285.2% ± 2792.2%, P <0.001), but there was no statistical difference in BCL11A mRNA levels The difference was statistically significant (0.78% ± 0.21% vs 0.72% ± 0.28%, P = 0.704). The level of BCL11A mRNA in TM patients was not significantly correlated with the age of first transfusion (r = 0.201, P = 0.345). Conclusion BCL11A is not involved in the openness of gamma gene and compensatory increase of HbF in TM patients.