[Thalassemia Genotypes and HbA2 levels of Children in Wuzhou, Guangxi].

Publisher: Zhongguo shi yan xue za zhi she Country of Publication: China NLM ID: 101084424 Publication Model: Print Cited Medium: Print ISSN: 1009-2137 (Print) Linking ISSN: 10092137 NLM ISO Abbreviation: Zhongguo Shi Yan Xue Ye Xue Za Zhi Subsets: MEDLINE

Original Publication: Beijing : Zhongguo shi yan xue za zhi she,

Genotype* ; alpha-Thalassemia*/genetics ; beta-Thalassemia*/genetics ; Hemoglobin A2*; Humans ; China ; Child ; Point Mutation ; Male

Objective: To analyze thalassemia genotypes and distribution of children in Wuzhou Guangxi, and evaluate the diagnostic value of HbA2 in children's thalassemia screening, so as to provide scientific evidence for the prevention and control strategies of thalassemia.
Methods: Four hundred and fifty-eight children suspected with thalassemia in Wuzhou were enrolled from March 2017 to June 2022. The level of HbA2 was detected using Bio-Rad VARIANT II Hb analysis system. The deletion of α-thalassemia was measured with gap-PCR assay, and the point mutation of α- and β-thalassemia was tested with DNA reverse dot blot hybridization assay. The receiver operating characteristic (ROC) curve was used to analyze the diagnostic value of HbA2 for children's thalassemia.
Results: A total of 304 thalassemia carriers were detected in 458 children, accounting for 66.38%. One hundred and seventy-five cases were defined to be α-thalassemia, with the main type of -- ^SEA /αα (54.86%). Thirty-six cases were defined to be intermediate α-thalassemia, with the main type of -α ^3.7 /-- ^SEA (9.72%). In 108 cases with β-thalassemia, β ^CD41-42 / β ^N was the main type, accounting for 49.07%, followed by β ^IVS-Ⅱ-654 / β ^N (14.81%). Seven cases were moderate/severe β-thalassemia (predominantly β ^-28 / β ^-28 and β ^CD41-42 / β ^CD17 /). Twenty-one genotypes of α- and β-thalassemia were found in the children. There was significant difference of HbA2 level between the children with different types of thalassemia and healthy controls (all P < 0.001). ROC curve analysis showed that the sensitivities of HbA2 for α-thalassemia, β-thalassemia and αβ-thalassemia were 74.3%, 82.4% and 85.7%, with the optimal cut-off values of 2.60%, 3.60% and 3.70%, respectively, the specificities were 64.3%, 96.1% and 96.8%, and the area under the curve were 0.690, 0.887 and 0.916, respectively.
Conclusion: The thalassemia genotypes of children in Wuzhou are diverse. It is necessary to further strengthen the prevention and control measure of thalassemia to reduce birth defects and improve birth quality.

Keywords: thalassemia; children; gene mutation; HbA2
Local Abstract: [Publisher, Chinese] 广西梧州地区儿童地中海贫血基因类型及HbA2检测结果分析. [Publisher, Chinese] 分析广西梧州地区儿童地中海贫血（地贫）基因突变类型及分布特征，探讨HbA2在儿童地贫筛查中的诊断价值，为本地区地贫防控提供参考。. [Publisher, Chinese] 收集2017年3月至2022年6月梧州地区疑似地贫患儿458例，用Bio-Rad VARIANT Ⅱ血红蛋白分析系统检测HbA2含量，采用跨越断裂点PCR检测缺失型α-地贫，采用DNA反向斑点杂交技术检测α和β地贫点突变，绘制受试者工作特征（ROC）曲线，分析HbA2在不同类型儿童地贫筛查中的诊断价值。. [Publisher, Chinese] 458例疑似地贫患儿中共检出地贫携带者304例，阳性检出率约66.38%。检出α-地贫基因携带者175例，以-- ^SEA /αα为主（54.86%），中间型α-地贫36例，其中以-α ^3.7 /-- ^SEA 较为常见（9.72%）；检出β-地贫108例，以 β ^CD41-42 / β ^N （49.07%）为主，其次为 β ^IVS-Ⅱ-654 / β ^N （14.81%）；检出中/重型β-地贫7例， β ^-28 / β ^-28 and β ^CD41-42 / β ^CD17 为主；αβ-地贫共检出21种基因型。不同类型的地贫患儿HbA2水平与基因正常对照组比较，差异有统计学意义（均 P < 0.001）。ROC曲线分析结果显示，HbA2诊断儿童α、β和αβ最佳截断值分别为2.60%、3.60%和3.70%，其敏感度分别为74.3%、82.4%和85.7%，特异性分别为64.3%、96.1%和96.8%，曲线下面积（AUC）分别为0.690、0.887和0.916。. [Publisher, Chinese] 梧州地区儿童地贫突变类型多样，需进一步加强地贫防控，以减少出生缺陷、提高优生质量。.

9034-53-1 (Hemoglobin A2)

Date Created: 20240627 Date Completed: 20240627 Latest Revision: 20240716

20240717

10.19746/j.cnki.issn.1009-2137.2024.03.027

38926975