深圳地区学龄前儿童贫血状况及地中海贫血基因突变类型

发布时间：2018-04-20 17:58

本文选题：小儿贫血 + 学龄前儿童　；参考：《实用医学杂志》2017年01期

【摘要】：目的:探讨深圳地区学龄前儿童贫血状况及地中海贫血基因突变类型。方法:以2012年10月至2015年9月收治的658例学龄前贫血儿为研究对象,系统分析其血液表型,并检测中国人群中最常见的17种β-地贫突变、3种α-地贫点突变及3种缺失型α-地贫基因改变。结果:658例贫血儿主要表现为小细胞、低色素,426例确诊为地中海贫血(64.7%),共检出23种基因型,13种等位基因突变,基因型以--SEA/αα(46%)、β654/βN(15%)、β41-42/βN(12.7%)最常见,等位基因突变以SEA缺失(49.1%)、IVS-Ⅱ-654(C→T)(14.4%)、CD41-42(-TTCT)(12.4%)为主。地贫确诊儿的MCV与MCH明显低于非地贫儿,组间比较RBC、Hb、MCV、MCH、MCHC、RBC-SD差异均有统计学意义。结论:深圳地区学龄前贫血儿中地贫儿占比较高,要加强本地区地贫干预工作,减少贫血对学龄前儿童健康的影响。
[Abstract]:Objective: To investigate the anemia status of preschool children in Shenzhen and the type of gene mutation of thalassemia. Methods: 658 preschool anaemic children treated from October 2012 to September 2015 were studied, and their blood phenotypes were analyzed systematically, and the most common 17 kinds of beta poor mutations in Chinese population, 3 kinds of alpha poor point mutation and 3 kinds of missing alpha were detected. Results: 658 cases of anemia were mainly characterized by small cells, low pigments, 426 cases of thalassemia (64.7%), 23 genotypes, 13 alleles, --SEA/ alpha alpha (46%), beta 654/ beta N (15%), beta 41-42/ beta N (12.7%), SEA deletion (49.1%), IVS- II -654 (C to T) (14.4%), C, and C. D41-42 (-TTCT) (12.4%) was the main factor. The MCV and MCH of the diagnosed children with land poverty were significantly lower than those of non poor children. The differences in RBC, Hb, MCV, MCH, MCHC and RBC-SD were statistically significant between the groups. Conclusion: the poor children in the pre-school anemia children in Shenzhen area were relatively high, and the intervention of local poverty should be strengthened to reduce the effect of anemia to preschool children.

【作者单位】：广东省深圳市龙岗区妇幼保健院;
【基金】：龙岗区科技计划项目(编号:YS2013167) 国家自然科学基金项目(编号:81201568)
【分类号】：R725.5

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