[Gene Mutants and Their Clinical Characteristics of G6PD Deficiency Among Children in Luzhou Area].

To study the gene mutants of G6PD deficiency and their clinical featuers among children in Luzhou area.732 children with suspected G6PD deficiency in Luzhou area from March 2017 to July 2019 were selected, which were examined for G6PD enzyme activity and gene mutation. The G6PD enzyme activity was detected by ultraviolet rate quantification, and the gene mutation was detected by melting curve analysis-based PCR assay, and the clinical characteristics of different mutants when acute hemolysis happens were analyzed.387 positive specimens were detected in 732 specimens, among which the gene mutation and the enzyme activity decrease was found in specimens 326, 49 specimens showed gene mutation but without the enzyme activity decrease, and 12 specimens without gene mutation but with the enzyme activity decrease. Among 375 positive samples with gene mutation, c.1376G＞T, c.1388G＞A, c.1024C＞T and c.95A＞G were the most common. The enzyme activity of c.1376G＞T and c.1388G＞A was statistically significantly different with c.1024C＞T. The most common incentives of acute hemolysis was broad bean, the reticulocyte count was statistically significantly different among c.1376G＞T, c.1388G＞A and c.95A＞G. The hemoglobin level of c.1376G＞T was statistically significantly different from with c.95A＞G. Moreover, c.1376G＞T, c.1388G＞A was lower than c.1024 C＞T. When acute hemolysis occurs, the reticulocyte count and hemoglobin changes were different between different mutation types, while the patients age, hospitalization time, blood transfusion, total bilirubin, and urine color recovery time of the patients were not statistically different.The common mutants of G6PD deficiency among children in Luzhou area are c.1376G＞T, and c.1388G＞A, c.1024C＞T. Favism is the most common clinical manifestation of G6PD deficiency.泸州儿童G6PD缺乏症的基因突变类型及临床特点分析.研究泸州地区儿童G6PD缺乏症基因突变类型及其临床特点.选取2017年3月至2019年7月泸州市各县区怀疑为G6PD缺乏症行G6PD酶活性+基因突变检查患儿共732例，采用紫外速率定量法进行G6PD酶活性检测，采用多色探针荧光PCR溶解曲线法检测基因突变，分析不同基因类型在发生急性溶血时的临床特点.732例标本中检测出阳性标本共387例，有基因突变且有酶活性下降326例，有基因突变但无酶活性下降共49例，无基因突变但有酶活性降低共12例。有基因突变的375例阳性样本中，c.1376G＞T、c.1388G＞A、c.1024C＞T及c.95A＞G最常见。c.1376G＞T、c.1388G＞A分别与c.1024C＞T酶活性比较差异有统计学意义（P＜0.05）。蚕豆是发生急性溶血最常见诱因，c.95A＞G分别与c.1388G＞A、c.1376G＞T网织红细胞率比较差异有统计学意义（P＜0.05），c.1376G＞T与c.95A＞G血红蛋白比较差异有统计学意义（P＜0.05）。c.1376G＞T、c.1388G＞A比c.1024C＞T酶活性低。发生急性溶血时，不同基因突变类型在网织红细胞率及血红蛋白变化有差异，而在年龄、住院时间、输血量、总胆红素、尿色恢复时间等方面无差异.泸州地区G6PD缺乏症患儿的常见基因突变类型为c.1376G＞T、c.1388G＞A、c.1024C＞T。G6PD缺乏症最常见的临床表现形式是蚕豆病.