现代医药卫生2025，Vol.41Issue(8)：1814-1819,1823,7.DOI:10.3969/j.issn.1009-5519.2025.08.008
广西壮族自治区来宾地区育龄人群HbA2筛查地中海贫血截断值探讨
Analysis of the cutoff value for HbA2 screening for thalassemia in the breeding-age population of the Laibin region,Guangxi Zhuang Autonomous Region
摘要
Abstract
Objective To explore the optimal cutoff values for screening various types of thalassemia u-sing Hemoglobin A2(HbA2)in the breeding-age population of the Laibin region of Guangxi Zhuang Autono-mous Region.Methods A total of 2 602 reproductive-age individuals who visited the hospital from January 2020 to December 2022 underwent capillary electrophoresis for hemoglobin(Hb)component analysis.Thalas-semia 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,posi-tive likelihood ratio,and negative likelihood ratio for screening α-thalassemia and its subtypes(silent α-thalas-semia,mild α-thalassemia,intermediate α-thalassemia),as well as β-thalassemia/αβ composite thalassemia,were calculated using different HbA2 cutoff values.Receiver operating characteristic curve analysis was used to determine the cut-off value of HbA2 in thalassemia carriers.Results A total of 1 048 cases of α-thalassemia were detected in 2 602 breeding-age individuals,involving 7 mutations and 20 genotypes.Among them,560 ca-ses were silent α-thalassemia,459 cases were mild α-thalassemia,and 29 cases were intermediate α-thalasse-mia.HbA2 test results were(2.54±0.26)%,(2.33±0.20)%,and(1.10±0.51)%,respectively.There were 497 cases of β-thalassemia/αβ combined thalassemia,with 9 mutations and 42 genotypes.The HbA2 test result was(5.33±0.03)%.The group with normal thalassemia genes consisted of 1057 cases,with an HbA2 level of(2.66±0.33)%.Comparing HbA2 test results across all groups of reproductive-age populations,the differ-ences were statistically significant(P<0.05).The cutoff values of HbA2 in α-thalassemia and its its subtypes(silent,mild and intermediate)and β-thalassemia/αβ combined thalassemia using a fully automated capillary e-lectrophoresis 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.关键词
地中海贫血/血红蛋白A2/截断值/广西壮族自治区Key words
Thalassaemia/Hemoglobin A2/Cutoff value/Guangxi zhuang autonomous region分类
医药卫生引用本文复制引用
韦宏素,叶丽花,温蕙萍,韦妮,胡君燕,沈雪莲,覃雪春..广西壮族自治区来宾地区育龄人群HbA2筛查地中海贫血截断值探讨[J].现代医药卫生,2025,41(8):1814-1819,1823,7.基金项目
广西壮族自治区来宾市科技计划项目(来科转220831 （）
来科转241534). （）
