7岁以下地中海贫血患儿血液学表型的研究

发布时间：2018-08-27 15:37

【摘要】：目的探讨相同基因型条件下7岁以下地中海贫血(地贫)患儿与成人地贫患者血液学表型之间的差异。方法采用反向点杂交法对451例地贫患儿(儿童组)和609例地贫成年患者(成人组)进行地贫基因分型检测,同时测定患者的血细胞参数[红细胞平均体积(MCV)、红细胞平均血红蛋白含量(MCH)],应用SPSS 16.0统计软件对实验数据进行分析。结果两组对象共检出α-地贫和β-地贫基因杂合型各8种,其中--~(SEA)/αα、β~(654)/β~N以及β~(41-42)/β~N占较大比例。相同基因型条件下地贫患儿的MCV与MCH明显低于成人组,各类别间比较MCV、MCH差异有统计学意义(P0.05)。结论 7岁以下地贫患儿的血液学表型不同于相同基因型的地贫成年患者。应用于成人的地贫血液学筛查标准不适合7岁以下儿童的筛查。
[Abstract]:Objective to investigate the hematologic phenotypes of children with thalassemia (thalassemia) under 7 years old and adult thalassemia patients with the same genotype. Methods the genotyping of thalassemia in 451 children with thalassemia (children) and 609 adults with thalassemia (adult) was detected by reverse dot hybridization. At the same time, the blood cell parameters [mean volume of red blood cell (MCV), mean hemoglobin content (MCH)] were measured. SPSS 16.0 software was used to analyze the experimental data. Results A total of 8 heterozygous types of 伪 -thalassemia and 尾 -thalassemia were detected in the two groups, among which ~ (SEA) / 伪, 尾 ~ (654) / 尾 -N and 尾 ~ (41-42) / 尾 -N accounted for a large proportion. The MCV and MCH of the children with thalassemia were significantly lower than that of the adults under the same genotype, and there was significant difference in MCV,MCH between different groups (P0.05). Conclusion Hematologic phenotypes of children under 7 years old with thalassemia are different from those of adult thalassemia patients with the same genotype. The hematological screening criteria for thalassemia used in adults are not suitable for children under 7 years of age.
【作者单位】：深圳市龙岗区妇幼保健院中心实验室;深圳市龙岗区妇幼保健院产科;
【基金】：深圳市龙岗区科技计划项目(编号:YLWS20150515182051216)
【分类号】：R725.5

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