临界血红蛋白A_(2)人群的β地中海贫血检出情况

Prevalence ofβ-thalassemia among population with hemoglobin A_(2) at critical range

目的探讨临界血红蛋白A_(2)(HbA_(2))人群β地中海贫血的检出情况。方法纳入HbA_(2)处于临界值(>3%~4.0%)的3203例地中海贫血筛查者,均接受地中海贫血基因检测。统计β地中海贫血的总体检出率,并比较不同平均红细胞体积(MCV)者的β地中海贫血检出率。结果在3203例HbA_(2)处于临界值的受检者中,β地中海贫血检出率为12.33%(395/3203);HbA_(2)>3.0%~3.5%、HbA_(2)>3.5%~4.0%的受检者的β地中海贫血检出率分别为4.23%(93/2199)、30.08%(302/1004)。无论是在HbA_(2)>3.0%~3.5%的受检者中还是在HbA_(2)>3.5%~4.0%的受检者中,MCV<80 fL者的β地中海贫血检出率均高于MCV≥80 fL者(均P<0.05)。结论临界HbA_(2)者中存在一定比例的β地中海贫血患者,尤其是HbA_(2)在>3.5%~4.0%的患者,建议进一步行基因检测;此外,结合MCV水平或可提高临界HbA_(2)人群的β地中海贫血的诊断准确率。

Objective To explore the prevalence ofβ-thalassemia among the population with hemoglobin A_(2)(HbA_(2))at critical range.Methods A total of 3203 thalassemia examinees with critical range of HbA_(2)(>3%-4.0%)were enrolled,and all received thalassemia gene testing.The total detection rate ofβ-thalassemia was calculated,and the detection rate ofβ-thalassemia was compared between individuals with different mean corpuscular volumes(MCV).Results Among the 3203 subjects with borderline HbA_(2),the detection rate ofβ-thalassemia was 12.33%(395/3203);the detection rates ofβ-thalassemia in subjects with HbA_(2)>3.0%-3.5%and HbA_(2)>3.5%-4.0%were 4.23%(93/2199)and 30.08%(302/1004),respectively.Among subjects with HbA_(2)>3.0%-3.5%or HbA_(2)>3.5%-4.0%,the detection rate ofβ-thalassemia in subjects with MCV<80 fL was higher than that in subjects with MCV≥80 fL(all P<0.05).Conclusion Patients withβ-thalassemia account for a certain proportion among population with borderline HbA_(2),especially among patients with HbA_(2)>3.5%-4.0%,further genetic testing is recommended.In addition,the combination of MCV level may improve the diagnostic accuracy forβ-thalassemia among population with HbA_(2) at critical range.