深圳宝安区儿童小细胞低色素性贫血现状及病因分析  

Analysis present situation and cause of children of cellule low pigment anemia in Shenzhen baoan district

作　　者：肖海军[1] 殷晓晴 张慧莲[1] 刘芹兰[1] 

机构地区：[1]深圳市宝安区妇幼保健院检验科,广东深圳518000 [2]深圳市龙华新区人民医院妇科,518109

出　　处：《中国优生与遗传杂志》2016年第8期131-132,123,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的了解深圳宝安区儿童发生小细胞低色素性贫血的现状,并分析其原因,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3月~2015年8月来本院体检儿童3760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 3760例体检儿童中检出小细胞低色素性贫血399例,占10.6%（399/3760）;经基因分析,399例小细胞低色素性贫血患儿中分别检出α-地中海贫血188例[合并铁缺乏症（ID）59例],β-地中海贫血117例（合并ID25例）,α-复合β-地中海贫血47例（合并ID6例）,铁缺乏231例（合并地中海贫血90例）,地中海贫血检出率为64.7%（258/399）,铁缺乏检出率为57.9%（231/399）,地中海贫血合并ID的发生率为34.9%（90/258）;单纯性小细胞低色素症（MCV和MCH均降低,但不贫血）患儿53例,占13.3%（53/399）,其地中海贫血基因总检出率为66.0%和总携带率为75.5%。结论深圳宝安区儿童发生小细胞低色素性贫血尤其单纯性小细胞低色素症最主要的原因是地中海贫血,其次为ID和地中海贫血合并ID。同时,还发现ID个体有较高的地中海贫血基因检出率,应引起临床和社会高度重视。Objective： To understand the Shenzhen baoan district children of cellule low pigment anemia status quo, and analyzes its reason, for children of cellule low pigment anaemia will provide a scientific basis for prevention and treatment. Methods： Randomly collected 2014 August to 2015 March 3760 cases in our hospital check-up children, respectively on children＇ s individual hematology indexes and globin gene type of testing and iron metabolism status. Results： Detected in 3760 children with physical examination results of cellule low pigment anemia was 399 cases, accounting for 10.6% （399/3760） Through genetic analysis, 399 cases of small cell and low pigment were detected in children with anemia, α- thalassaemia was 188 cases [with iron deficiency （ID） 59cases],β-thalassaemia was 117 （with ID25cases） , compound of α-and β- thalassaemia was 47 cases （with ID6 cases） , iron deficiency was 231 cases （with Mediterranean anemia 90 cases） , Mediterranean anemia detection rate was 64.7% （258/399） , iron deficiency detection rate was 57.9% （231/399） , the incidence of Mediterranean anemia combined ID was 34.9% （90/258） ; Simple cellule low pigment disorder （MCV and MCH are lower, but not anemia） children with 53 cases, 13.3% （53/399） , its Mediterranean anemia genes overall detection rate was 66.0%, and the total carrying rate was 75.5%. Conclusion： In shenzhen baoan district children of cellule low pigment anemia particularly simple cellule low pigment disease the main reason is the Mediterranean anemia, followed by the ID and the Mediterranean anemia combined 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.

关 键 词：儿童 小细胞低色素性贫血 病因学 地中海贫血 缺铁乏症 

分 类 号：R725.5[医药卫生—儿科]