Objective To investigate the type and content of hemoglobin in dried blood spots in premature infants with different gestational ages, so as to determine the cut-off value of HbA in screening β-thalassemia in premature infants, thereby providing evidence for screening β-thalassemia in premature infants. Methods The components and relative content (%) of hemoglobin in dried blood spots in 5 719 premature infants from Liuzhou Center of Neonatal Screening were detected from January 2015 to December 2016 using capillary hemoglobin analysis. The cut-off value of HbA in screening β-thalassemia in premature infants was determined by data analysis and gene detection in partial premature infants with β-thalassemia. Results Main components of hemoglobin in dried blood spots in premature infants included HbA, HbF and HbA2. There were 303 (5.3%) infants with early preterm birth, 653 (11.42%) infants with moderate preterm birth and 4 763 (82.23%) infants with late preterm birth, showing the cut-off value (P5 value of HbA) of 4.7%, 5.57% and 6.7% respectively, with significant differences among each groups (P<0.001). The cut-off value in each group was used to screen β-thalassemia in premature infants, which was highly consistent with the Results of genetic diagnosis (Kappa value =0.678,P<0.001). The sensitivity and specificity of the cut-off value of HbA in screening β-thalassemia in premature infants was 81.25% (26/32) and 86.67% (26/30), respectively. The rates of missed diagnosis and misdiagnosis were 18.75% (6/32) and 13.33% (4/30), respectively. Positive predictive value was 86.67% (26/30), negative predictive value was 81.25% (26/32), and diagnostic accordance rate was 83.87% (52/62). Conclusion Capillary hemoglobin analysis detecting HbA in dried blood spots can be used to screen β-thalassemia in premature infants.
Key words
premature infants /
beta-thalassemia /
capillary hemoglobin analysis /
dry blood spots /
cut-off values
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
[1] 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.
[2] 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.
[3] 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.
[4] 中华医学会儿科学分会新生儿学组.中国城市早产儿流行病学初步调查报告[J].中国当代儿科杂志,2005,7(1):25-28.
[5] 潘健儿.住院早产儿贫血现状与输血治疗[J].中国优生与遗传杂志,2015,23(8):91-92.
[6] 陈和平,陈冬,周沫,等.脐血常规血液检查和血红蛋白A定量在诊断新生儿地中海贫血的实验研究和应用[J].中国实验诊断学,2004,8(4):366-368.
[7] 甘冰,毛锦江.新生儿脐血血红蛋白电泳HbA在筛查β地中海贫血中的意义[J].中国优生与遗传杂志,2014,22(1):75-76.
[8] Galanello R,Melis MA,Ruggeri R,et al. Prospective study of red blood cell indices, hemoglobin A2, and hemoglobin F in infants heterozygous for Beta-thalassemia[J]. J Pediatr,1981,99(1):105-108.
[9] Cossu G,Manca M,Pirastru MG,et al. Neonatal screening of beta-thalassemias by thin layer isoelectric focusing[J]. Am J Hematol,1982,13(2):149-157.
[10] Mantikou E, Arkesteijn SG, Van JMB, et al. A brief review on newborn screening methods for hemoglobin-opa thies and preliminary results selecting beta-thalassemia carriers at birth by quantitativeestimation of the HbA fraction[J].Clin Biochem,2009,42(8):1780-1785.
[11] 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.
[12] 周曼,刘启英,赵钿,等.不同孕周新生儿脐血血红蛋白电泳结果分析[J].天津医药.2013,41(4):307-309.
[13] Stephens AD,Angastiniotis M,Baysal E, et al. ICSH recommendations for the measurement of haemoglobin A(2)[J]. Int J Lab Hemato,2012,34(1):1-13.
[14] Stephens AD, Colah R, Fucharoen S, et al. ICSH recommendations for assessing automated high-performance liquid chromatography and capillary electrophoresis equipment for the quantitation of HbA2[J]. Int J Lab Hematol, 2015,37(5): 577-582.
[15] Mantikou E,Harteveld CL,Giordano PC. Newborn screening for hemoglobinopathies using capillary electrophoresis technology: Testing the Capillarys Neonat Fast Hb device.[J]. Clin Bioche,2010,43(16-17):1345-1350.
[16] 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.
[17] Hustace T, Fleisher JM, Sanchez Varela AM, et al. Increased prevalence of false positive hemoglobinopathy newborn screening in premature infants[J]. Pediatr Blood Cancer, 2011,57(6):1039-1043.
PDF(535 KB)
