CAJ | 학술논문

目的：了解广东省地区新生儿β-地中海贫血（β-地贫）的携带率，评价毛细管电泳法（ capillary e-lectrophoresis，CE）用于筛查新生儿β-地贫的可行性，探讨使用血红蛋白A（ hemoglobin A，Hb A）筛查新生儿期β-地贫的最适宜截断值。方法研究对象为广东省21个地级市的脐血样本13396例，采用Sebia第二代全自动毛细管电泳仪对新生儿脐血进行血红蛋白成分分析，应用地中海贫血液相芯片技术对全部样本进行基因水平的验证。以基因结果为金标准使用受试者特征工作曲线（ ROC）评价CE用于筛查新生儿β-地贫的敏感度和特异度，并选取Hb A的最佳截断值。结果在13396份新生儿脐血中检出β-地贫500例，携带率为3.73％，其中轻型β-地贫498例，中间型β-地贫2例。 Hb A的ROC曲线下面积为0.927，选取Hb A的截断值为13％时，其筛查新生儿β-地贫的灵敏度为98.4％，特异度为76.2％。结论广东省新生儿β-地贫携带率高，CE可用于筛查新生儿β-地贫，并且选取Hb A的截断值为13％时具备较好的筛查准确性。
목적：료해광동성지구신생인β-지중해빈혈（β-지빈）적휴대솔，평개모세관전영법（ capillary e-lectrophoresis，CE）용우사사신생인β-지빈적가행성，탐토사용혈홍단백A（ hemoglobin A，Hb A）사사신생인기β-지빈적최괄의절단치。방법연구대상위광동성21개지급시적제혈양본13396례，채용Sebia제이대전자동모세관전영의대신생인제혈진행혈홍단백성분분석，응용지중해빈혈액상심편기술대전부양본진행기인수평적험증。이기인결과위금표준사용수시자특정공작곡선（ ROC）평개CE용우사사신생인β-지빈적민감도화특이도，병선취Hb A적최가절단치。결과재13396빈신생인제혈중검출β-지빈500례，휴대솔위3.73％，기중경형β-지빈498례，중간형β-지빈2례。 Hb A적ROC곡선하면적위0.927，선취Hb A적절단치위13％시，기사사신생인β-지빈적령민도위98.4％，특이도위76.2％。결론광동성신생인β-지빈휴대솔고，CE가용우사사신생인β-지빈，병차선취Hb A적절단치위13％시구비교호적사사준학성。
Objective To investigate the prevalence of β-thalassemia in neonates of Guangdong Province and to evaluate the feasibility and the best cut -off value of hemoglobin A ( Hb A) by capillary electrophoresis ( CE) system for screening β-thalassemia in neonates .Methods A total of 13 396 neonate cord blood samples were collected from 21 cities of Guangdong Province .Hemoglobin fractions and quantification were performed by Sebia automated capillary elec -trophoresis .Molecular analysis of the β-goblin genes was carried out for all the samples as gold standard , while 17 com-mon point mutations of β-thalassemia were examined by a suspension array system .Receiver operating characteristic curve (ROC curve) analysis was utilized to illustrate the screening performance of the percentage of Hb A , and to obtain the best cut-off value of Hb A .Results Among the 13 396 cord blood samples selected , 500 neonates were diagnosed asβ-thalassemia and the carrier rate was 3.73%.The cut-off value of percentage of Hb A was 13%, with the sensitivity of 98.4%and the specificity of 76.2%.Conclusion The prevalence of β-thalassemia is high in Guangdong Province . CE is suitable for screening β-thalassemia in neonates , and the best cut -off value of Hb A is 13.0%.