目的：了解深圳大鹏新区儿童小细胞低色素性贫血患病现状，为儿童小细胞低色素性贫血的预防和治疗提供科学依据。方法随机收集2014年9月～2016年1月来医院体检儿童2256例，分别对儿童个体中的血液学指标和珠蛋白基因型及铁代谢状态进行检测。结果2256例体检儿童小细胞低色素性贫血患病率为10.6％（239／2256）；经基因分析，239例小细胞低色素性贫血患儿中分别检出α-珠蛋白生成障碍性贫血113例[并发铁缺乏症（ID）35例]，β-珠蛋白生成障碍性贫血70例（并发ID 15例），α-复合β-珠蛋白生成障碍性贫血28例（并发ID 4例），铁缺乏139例（并发珠蛋白生成障碍性贫血54例），珠蛋白生成障碍性贫血检出率为64.9％（155／239），铁缺乏检出率为58.2％（139／239），珠蛋白生成障碍性贫血并发 ID的发生率为34.8％（54／155）；单纯性小细胞低色素症（MCV 和 MCH 均降低，但不贫血）患儿32例，占13.4％（32／239）；珠蛋白生成障碍性贫血基因总检出率为65.6％和总携带率为75.0％，其中α-珠蛋白生成障碍性贫血基因缺陷类型主要为－－SEA／αα，－α3.7／αα及－α4.2／αα，占93.8％；β-珠蛋白生成障碍性贫血基因缺陷类型主要为 CD41／42，CD17，IVS-II-654及-28，占84.2％。结论深圳大鹏新区儿童发生小细胞低色素性贫血最主要原因是珠蛋白生成障碍性贫血，尤其在单纯性小细胞低色素症中更为突出，其次为 ID和珠蛋白生成障碍性贫血并发 ID。同时，还发现 ID个体有较高的珠蛋白生成障碍性贫血基因检出率，应引起临床和社会高度重视。%Objective To understand the shenzhen Dapeng new district children of cellule low pigment anemia disease status of cellule low pigment anemia for children provide a scientific basis for prevention and treatment.Methods Randomly col-lected 2 256 cases of children with physical examination in hospital from September 2014 to January 2016.The indexes of he-matology and the genotype of the pearl protein and iron metabolism in children were detected respectively.Results 2 256 children with physical examination results of cellule low pigment anemia prevalence was 10.6% (239/2 256).Through ge-netic analysis,239 cases of small cell and low pigment were detected in children with anemia,α-thalassaemia 113 cases [with iron deficiency (ID)was 35],β-thalassaemia 70 (merge ID15),compound ofα-β-thalassaemia 28 cases (merge ID4),iron de-ficiency was 139 cases (with thalassaemia 54 cases)merging the Mediterranean anemia,Mediterranean anemia detection rate was 64.9% (155/239),iron deficiency detection rate was 58.2% (139/239),the incidence of Mediterranean anemia com-bined ID was 34.8% (54/155).Simple cellule low pigment disorder (MCV and MCH were lower,but not anemia)children with 32 cases,13.4% (32/239).Mediterranean anemia genes overall detection rate was 65.6% and the total carrying rate was 75.0%,among themα-thalassaemia genetic defect types were mainly -SEA/αα,-α3.7/aαand -α4.2/αα,accounted for 93.8%;β-thalassaemia genetic defect types were mainly CD41/42,CD17,IVS-II-654 and -28,accounted for 84.2%. Conclusion Mediterranean anemia is the main reason of cellule low pigment anemia of children in shenzhen Dapeng new dis-trict,especially in simple cellule low pigment disorder is more outstanding,followed by ID and Mediterranean anemia com-bined ID.At the same time,also found that ID individuals have higher Mediterranean anemia gene detection rate,should cause clinical and attaches great importance to the society.
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