东莞市儿童小细胞低色素性贫血的病因分析

Analysis of the causes of small cell hypochromatic anemia in children in Dongguan City

目的分析东莞市儿童小细胞低色素性贫血的病因。方法随机选取东莞市南城医院2018年1月1日至2019年4月30日就诊的6个月~14岁小细胞低色素性贫血患儿200例,根据年龄大小将其分成Ⅰ组、Ⅱ组、Ⅲ组,例数分别是64例、66例、70例。所有患儿入院次日抽取患儿肘静脉血3 ml,采用全自动生化分析仪检测患儿的红细胞(RBC)、血红蛋白(Hb)、红细胞体积(MCV)及红细胞平均血红蛋白量(MCHC)水平。并采用全自动化学发光法检测患儿的血清铁、铁蛋白水平。采用双抗体夹心酶联免疫吸附法(ELISA)检测维生素A水平。采用反向点杂交法检测珠蛋白生成障碍性贫血基因SEA/aa、A3.7/aa、a4.2/aa突变情况。比较三组患儿RBC、Hb、MCV、MCHC、血清铁及铁蛋白水平、珠蛋白生成障碍性贫血例数及其基因突变情况。结果Ⅰ组、Ⅱ组、Ⅲ组患儿RBC、Hb、MCV、MCHC水平比较差异有统计学意义(P<0.05)。Ⅰ组、Ⅱ组、Ⅲ组患儿血清铁、铁蛋白、维生素A水平比较差异有统计学意义(P<0.05)。Ⅰ组、Ⅱ组、Ⅲ组患儿贫血程度比较差异有统计学意义(P<0.05)。Ⅰ组患儿轻度贫血率最高,重度贫血率最低;Ⅲ组患儿轻度贫血率最低,重度贫血率最高。Ⅰ组、Ⅱ组、Ⅲ组患儿珠蛋白生成障碍性贫血率[35.94%(23/64)、37.88%(25/66)、44.29%(31/70)]比较差异有统计学意义(P<0.05),发生率由高到低依次是Ⅲ组、Ⅱ组、Ⅰ组。三组患儿SEA/aa、A3.7/aa、a4.2/aa突变率比较差异有统计学意义(P<0.05),检出率由高到低依次是Ⅲ组、Ⅱ组、Ⅰ组。结论RBC、Hb、MCV、MCHC、血清铁及铁蛋白水平影响患儿贫血程度,6~14岁患儿贫血程度最严重,且珠蛋白生成障碍性贫血基因突变情况最多,建议临床积极关注6~14岁患儿贫血基因突变问题,从而指导临床诊治。

Objective To analyze the causes of small cell hypochromatic anemia in children in Dongguan.Methods Two hundred children aged 6 months to 14 years old from January 1 st,2018 to April 30 th,2020 were randomly selected with approval of hospital ethics.They were divided into groupⅠ,group II and groupⅢaccording to their age.The number of cases was 64 cases,66 cases and 70 cases,respectively.The peripheral venous blood of all children was taken 3 ml the day after admission,and the erythrocyte(RBC),Hb,MCV,MCHC level was measured by automatic biochemical analyzer.The serum iron and ferritin levels were detected by automatic chemiluminescence method.Vitamin A level was detected by double antibody sandwich enzyme-linked immunosorbent assay(ELISA).Reverse dot crossing method was used to detect SEA/aa,A3.7/aa,a4.2/aa mutation in globin dyslexia gene.The levels of serum iron and ferritin,the number of cases of globin aplastic anemia and their gene mutations were compared among the three groups.Results There was significant difference in RBC,Hb,MCV,MCHC level between groupⅠ,groupⅡand groupⅢ(P<0.05).The levels of serum iron,ferritin and vitamin A in groupⅠwere significantly higher than those in groupⅢ(P<0.05).The levels of serum iron,ferritin and vitamin A in groupⅠwere significantly higher than those in groupⅢ(P<0.05).The rate of mild anemia was the highest and the rate of severe anemia was the lowest in groupⅠ.The rate of mild anemia and severe anemia in groupⅢwas the lowest and the rate of severe anemia was the highest.There was significant difference in the rate of globin dyslexia in groupⅠ,groupⅡand groupⅢ(P<0.05).The order of incidence from high to low was groupⅢ,groupⅡand group I.There was significant difference in SEA/aa,A3.7/aa,a4.2/aa mutation rate among the three groups(P<0.05).The order of detection rate from high to low was groupⅢ,groupⅡand group I.Conclusions The level of serum iron and ferritin in RBC,Hb,MCV,MCHC,affects the degree of anemia in children,and the degree of anemia is the most serious in children aged 6-14 years old,and the mutation of globin dyslexia gene is the most.It is suggested that clinical attention should be paid to the problem of anemia gene mutation in children aged 6-14 years,so as to guide the clinical diagnosis and treatment.