Analysis of cut-off value in screening of moderate and severe &beta;-thalassemia by &nbsp;&nbsp;&nbsp;capillary hemoglobin electrophoresis for neonates

YANG Jin-ling; CAI Ren; TAN Jian-qiang; CHEN Da-yu; HUANG Li-hua; WEI Jiang-yan; LAN Hai-you

doi:10.11852/zgetbjzz2018-26-06-08

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Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (6) : 606-610. DOI: 10.11852/zgetbjzz2018-26-06-08

Analysis of cut-off value in screening of moderate and severe β-thalassemia by capillary hemoglobin electrophoresis for neonates

YANG Jin-ling, CAI Ren, TAN Jian-qiang, CHEN Da-yu, HUANG Li-hua, WEI Jiang-yan, LAN Hai-you

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Abstract

Objective To analyze the characteristics of capillary hemoglobin electrophoresis in neonates,and to determine the cut-off values of hemoglobin for moderate and severe β-thalassemia screening in neonates. Methods Retrospective analysis was performed on the results of capillary hemoglobin electrophoresis and genetic testing for 1 020 neonates. Neonates were assigned to 6 groups according to the gestational age at birth and the genetic testing results,and the HbA and HbF levels in each group were analyzed. The cut-off values for screening for moderate and severe β-thalassemia in neonates were determined using receiver operating characteristics (ROC) curve. Results HbA level was lower in moderate and severe β-thalassemia group than that in any other groups except the abnormal hemoglobin group (P<0.05); HbF level was higher in moderate and severe β-thalassemia group than that in any other groups(P<0.001). The area under curve (AUC) for HbA screening for moderate and severe β-thalassemia in neonates was 0.993,which was greater than 0.697 of HbF screening. The sensitivity and specificity of HbA cut-off values (2.35%) were 100% and 99.0%,respectively. Conclusions The cut-off value of HbA for capillary hemoglobin electrophoresis screening for moderate and severe β-thalassemia in neonates is 2.35%; Based on the cut-off value of HbA for capillary hemoglobin electrophoresis,HbF level and hemoglobin electrophoretograms could further reduce false positives.

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capillary hemoglobin electrophoresis / neonates / moderate and severe β-thalassemia / HbA / cut-off value

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YANG Jin-ling, CAI Ren, TAN Jian-qiang, CHEN Da-yu, HUANG Li-hua, WEI Jiang-yan, LAN Hai-you. Analysis of cut-off value in screening of moderate and severe β-thalassemia by capillary hemoglobin electrophoresis for neonates[J]. Chinese Journal of Child Health Care. 2018, 26(6): 606-610 https://doi.org/10.11852/zgetbjzz2018-26-06-08

References

[1] Srivorakun H,Fucharoen G,Changtrakul Y,et al.Thalassemia and hemoglobinopathies in southeast asian newborns: diagnostic assessment using capillary electrophoresis system [J].Clin Biochem,2011,44 (5-6):406-411.
[2] Xiong F,Sun M,Zhang X,et al.Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China[J].Clin Genet,2010,78(2): 139-148.
[3] Xu XM,Zhou YQ,Luo GX,et al.The prevalence and spectrum of α and β thalassaemia in Guangdong province:implications for the future health burden and population screening[J].J Clin Pathol,2004,57(5): 517-522.
[4] 蔡稔,李莉艳,梁昕,等.柳州市城镇人群α和β地中海贫血的发生率调查和基因型鉴定[J].中华流行病学杂志,2002,23(4): 281-285.
[5] Yin XL,Wu ZK,He YY,et al.Treatment and complications of thalassemia major in Guangxi,South China[J].Pediatr Blood Cancer,2011,57(7):1174-1178.
[6] Mantikou E,Harteveld CL,Giordano PC.Newborn screening for hemoglobinopathies using capillary electrophresis technology:testing the capillarys neonat fast Hb device[J].Clin Biochem,2010,43(16): 1345-1350.
[7] WolffF,Cotton F,Gulbis B,et al.Screening for haemoglobinopathies on cord blood: laboratory and clinical[J].J Med Screen,2012,19(3):116-122.
[8] Mantikou E,Arkesteijn SG,Van JMB, et al.A brief review onnewborn screening methods for hemoglobinopathies and preliminary results selecting be-tathalassemia carriers at birth by quantitative estimation of the HbA fraction[J].Clinical biochemistry,2009,42(8):1780-1785.
[9] 谭建强,潘莉珍,陆碧玉,等.柳州市中重度地中海贫血患儿出生原因调查[J].中国妇幼保健,2017,32(1):135-138.
[10] Srivorakun H,Fucharoen G,Sae-Ung N,et al.Analysis of fetal blood using capillary electrophoresis system: a simple method for prenatal diagnosis of severe thalassemia diseases[J].Eur J Haematol,2009,83(1):57-65.
[11] Hustace T.Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants.[J].Pediatr Blood Cancer,2011,57(6):1039-1043.
[12] 黄烁丹,张惠琴,邹婕,等.新生儿干血斑β地中海贫血筛查方法的研究[J].中国实验诊断学,2015,19(4):582-586.
[13] Streetly A,Latinovic R,Henthorn J,et al.Newborn bloodspot results: predictive value of screen positive test for thalassaemia major[J].J Med Screen,2013,20(4):183-187.
[14] KumarR,Sagar C,Sharma D,et al.beta-globin genes: mutation hot-spots in the global thalassemia belt[J].Hemoglobin,2015,39(1):1-8.
[15] YasmeenH,Toma S,Killeen N,et al.The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population[J].Eur J Med Genet,2016,59(8):355-362.
[16] 戴庆福,李晓璐,王玉霞,等.中国福建省龙岩地区地中海贫血基因突变类型的分析[J].中国实验血液学杂志,2017,25(2):498-502.
[17] Tang W,Zhang C,Lu F,et al.Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin region of Southern China[J].Clin Biochem,2015,48(16-17):1068-1072.
[18] Giardine B,Borg J,Viennas E,et al.Updates of the HbVar database of human hemoglobin variants and thalassemia mutations[J].Nucleic Acids Res,2014,42(D1):1063-1069.
[19] 张俊武.血红蛋白与血红蛋白病[M].南宁:广西科学技术出版社,2003.
[20] Rahimi Z.Genetic epidemiology,hematological and clinical features of hemoglobinopathies in Iran[J].Biomed Res Int,2013:803487.
[21] Liu SC,Peng CT,Lin TH,et al.Molecular lesion frequency of hemoglobin gene disorders in Taiwan[J].Hemoglobin,2011,35(3):228-236.