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目的评价新生儿脐血平均红细胞体积(MCV)和Hb A定量对新生儿β-地中海贫血的筛查价值。方法收集2011年2月-2012年5月该院足月新生儿脐血样本106份,按MCV分组:MCV≥100 f L 58例,MCV<100 f L 48例;按Hb A定量分组:Hb A≥16%78例,Hb A<16%28例。提取脐血基因组DNA,用反向点杂交(RDB)技术检测β-珠蛋白基因突变。用χ2检验比较按不同指标分组的β-地贫的阳性率,并评价Hb A<16%筛查新生儿β-地贫的敏感性和特异性。结果 106份样本共检出β-地贫11例,均为杂合子。MCV≥100 f L和MCV<100 f L的样本中,β-地贫的阳性率分别为12.1%和8.3%,差异无统计学意义(P=0.530);Hb A≥16%和Hb A<16%的样本中β-地贫的阳性率分别为3.8%和28.6%,差异有统计学意义(P<0.001)。Hb A<16%筛查β-地贫的敏感性和特异性分别为72.73%,78.95%。结论脐血红细胞参数MCV不能作为新生儿β-地贫筛查的指标;Hb A定量对新生儿β-地贫具有一定的筛查意义。
Objective To evaluate the screening value of β-thalassemia in neonates with neonatal umbilical cord blood volume (MCV) and Hb A quantification. Methods From February 2011 to May 2012, 106 neonatal umbilical blood samples of full-term neonates from the hospital were divided into two groups according to MCV: 58 cases with MCV≥100 f L and 48 cases with MCV <100 f L; Hb A was divided into Hb A ≥ 16% 78 cases, Hb A <16% 28 cases. Umbilical cord blood genomic DNA was extracted and the mutation of β-globin gene was detected by reverse dot blot hybridization (RDB). The χ2 test was used to compare the positive rates of β-thalassemia by different indicators and to evaluate the sensitivity and specificity of screening Hb A <16% for β-thalassemia in neonates. Results A total of 106 samples were detected β-thalassemia 11 cases, are heterozygous. The positive rates of β-thalassemia were 12.1% and 8.3% in MCV≥100 f L and MCV <100 f L, respectively, with no significant difference (P = 0.530); Hb A≥16% and Hb A < The positive rates of β-thalassemia were 3.8% and 28.6% in 16% of the samples, respectively, with statistical significance (P <0.001). The sensitivity and specificity of Hb A <16% screening for β-thalassemia were 72.73% and 78.95%, respectively. Conclusion Cord blood erythrocyte parameters MCV can not be used as an indicator of β-thalassemia screening; Hb A quantitative screening of neonatal β-thalassemia has some significance.