摘要
目的探讨广西壮族自治区来宾地区育龄人群血红蛋白A2(HbA2)筛查各类型地中海贫血(地贫)的最佳截断值。方法对2020年1月至2022年12月到该院就诊的2602例育龄人群采用毛细管电泳法进行Hb组分分析,利用跨越断裂点聚合酶链反应和反向斑点杂交技术进行地贫基因检测,根据地贫基因检测结果计算不同HbA2截断值筛查α-地贫及其分型(静止型α-地贫、轻型α-地贫、中间型α-地贫等),以及β-地贫/αβ复合型地贫的灵敏度、特异度、阳性似然比和阴性似然比。使用受试者工作特征曲线分析确定各类型地贫携带者HbA2的截断值。结果2602例育龄人群中检出α-地贫1048例,共7种突变,20种基因型,其中静止型α-地贫560例,轻型α-地贫459例,中间型α-地贫29例,HbA2检测结果分别为(2.54±0.26)%、(2.33±0.20)%、(1.10±0.51)%;β-地贫/αβ复合型地贫497例,共9种突变,42种基因型,HbA2检测结果为(5.33±0.03)%;地贫基因正常1057例,HbA2检测结果为(2.66±0.33)%,各组育龄人群HbA2检测结果比较,差异有统计学意义(P<0.05)。全自动毛细管电泳仪在α-地贫及其分型(静止型、轻型、中间型),以及β-地贫/αβ复合型地贫筛查中HbA2的截断值分别为2.4%、2.4%、2.4%、2.2%、3.3%;ROC曲线下面积分别为0.825、0.770、0.881、1.000、0.998;灵敏度分别为0.707、0.618、0.797、1.000、0.999;特异度分别为0.794、0.794、0.794、0.991、0.990。结论不同地区和不同人群的参考区间和截断值可能有所不同,因此,需根据具体情况进行定制化的策略。
Objective To explore the optimal cutoff values for screening various types of thalassemia using Hemoglobin A2(HbA 2)in the breeding-age population of the Laibin region of Guangxi Zhuang Autonomous Region.Methods A total of 2602 reproductive-age individuals who visited the hospital from January 2020 to December 2022 underwent capillary electrophoresis for hemoglobin(Hb)component analysis.Thalassemia gene testing was performed using breakpoint-spanning polymerase chain reaction(PCR)and reverse blot hybridization techniques.Based on the results of thalassemia gene testing,the sensitivity,specificity,positive likelihood ratio,and negative likelihood ratio for screeningα-thalassemia and its subtypes(silentα-thalassemia,mildα-thalassemia,intermediateα-thalassemia),as well asβ-thalassemia/αβcomposite thalassemia,were calculated using different HbA 2 cutoff values.Receiver operating characteristic curve analysis was used to determine the cut-off value of HbA 2 in thalassemia carriers.Results A total of 1048 cases ofα-thalassemia were detected in 2602 breeding-age individuals,involving 7 mutations and 20 genotypes.Among them,560 cases were silentα-thalassemia,459 cases were mildα-thalassemia,and 29 cases were intermediateα-thalassemia.HbA 2 test results were(2.54±0.26)%,(2.33±0.20)%,and(1.10±0.51)%,respectively.There were 497 cases ofβ-thalassemia/αβcombined thalassemia,with 9 mutations and 42 genotypes.The HbA 2 test result was(5.33±0.03)%.The group with normal thalassemia genes consisted of 1057 cases,with an HbA 2 level of(2.66±0.33)%.Comparing HbA 2 test results across all groups of reproductive-age populations,the differences were statistically significant(P<0.05).The cutoff values of HbA 2 inα-thalassemia and its its subtypes(silent,mild and intermediate)andβ-thalassemia/αβcombined thalassemia using a fully automated capillary electrophoresis instrument were 2.4%,2.4%,2.4%,2.2%and 3.3%,respectively.The area under the ROC curve(AUC)were 0.825,0.770,0.881,1.000 and 0.998,respectively.The sensitivity values were 0.707,0.618,0.797,1.000,and 0.999,respectively.The specificity values were 0.794,0.794,0.794,0.991,and 0.990,respectively.Conclusion The reference intervals and cutoff values may be different in different regions and populations.Therefore,it is necessary to customize the strategy according to the specific situation.
作者
韦宏素
叶丽花
温蕙萍
韦妮
胡君燕
沈雪莲
覃雪春
WEI Hongsu;YE Lihua;WEN Huiping;WEI Ni;HU Junyan;SHEN Xuelian;QIN Xuechun(Department of Laboratory,Laibin Maternity and Child Healthcare Hospital,Laibin,Guangxi 546100,China)
出处
《现代医药卫生》
2025年第8期1814-1819,1823,共7页
Journal of Modern Medicine & Health
基金
广西壮族自治区来宾市科技计划项目(来科转220831,来科转241534)。
