Analysis Of The G6PD Genotypes And Clinical Features Among Children In Luzhou

Objective:To study the gene mutation types of G6 PD deficiency in children in Luzhou area and its relationship with clinical characteristics,so as to provide theoretical basis for screening,diagnosis and treatment of the disease.Methods:1.From March 2017 to July 2019,the children suspected of G6 PD deficiency in luzhou area transferred to our hospital were collected,The gene mutation types of and the clinical characteristics of acute hemolysis with different gene types were analyzed retrospectively.2.Laboratory diagnosis method of G6 PD deficiency: The G6 PD enzyme activity was detected by quantification with ultraviolet speed,and the mutation was detected by melting curve analysis-based PCR assay,12 different kinds of gene mutation types were detected,for example: c.1360C>T,c.1376G>T,c.1388G>A,c.871G>A,c.1004C>A,c.1024C>T,c.95A>G,c.383T>C,c.392G>T,c.487G>A,c.592C>T,c.517T>C.3.Statistical methods: SPSS 17.0 software was used for statistical analysis.The measurement data were expressed by mean and standard deviation.Kruskal-Wallis H test was used for comparison between groups and for comparison between two groups,and the difference was statistically significant(p < 0.05).Results:1.387 positive specimens were detected in 732 specimens,including 326 specimens with gene mutation and the decrease of enzyme activity,49 specimens with gene mutation but without the decrease of enzyme activity,and 12 specimens with no gene mutation but the decrease of enzyme activity.2.Among 375 positive samples with gene mutation(293 male and 82 female),the male/female ratio was 3.57: 1,and 11 different kinds of gene mutation types were detected,of which c.1376G>T accounted for 26.40%(99/375),c.1388G>A accounted for 25.06%(94/375),c.1024C>T accounted for 23.47%(88/375);c.95A>G accounted for 12%(45/375);c.871G>A accounted for 4.27%(16/375);c.487G>A accounted for 2.93%(11/375);c.392G>T accounted for 3.47%(13/375);c.517T>C accounted for 1.07%(4/375),c.1004C>A accounted for 0.53%(2/375),c.1360C>T,c.592C>T and c.1376G>T+c.95A>G accounted for 0.27%(1/375)respectively.3.Among 375 positive samples with gene mutation,c.1376G>T,c.1388G>A,c.1024C>T and c.95A>G are the most common.All the four gene mutation types are classified by enzyme activity,and all of them are mainly lack of tertiary enzyme activity.There was no significant difference in the severity of enzyme activity deficiency.The enzyme activity of c.1376G>T,c.1388G>A were different with statistical significance compared with c.1024C>T respectively.4.When acute hemolysis occured,the most common inducement was broad bean.After removal of inducement,hydration and alkalization of urine,blood transfusion and other treatments,all the children were improved and discharged from hospital.The first three gene mutation types of children with acute hemolysis were c c.1388G>A?c.1376G>T?c.95A>G;A comparative analysis of its clinical characteristics showed that there was a statistically significant difference between c.1388G>A and c.95A>G when comparing reticulocyte rates(P < 0.05).The difference between c.1376G>T and c.95A>G was statistically significant(P< 0.05).When comparing hemoglobin,there was no significant difference between c.1388G>A and c.95A>G(P > 0.05).The difference between c.1376G>T and c.95A>G was statistically significant(P<0.05).However,there was no significant difference about age,red blood cell count,total bilirubin,blood transfusion volume,hospitalization time and urine color recovery time(P>0.05).Conclusion:1.The common genotypes of G6 PD deficiency among children in Luzhou area are c.1376G>T,c.1388G>A,c.1024C>T.2.There is no difference in the severity of enzyme activity deficiency among the genotypes,and the degree is mild to moderate deficiency.c.1376G>T,c.1388G>A may have lower enzyme activity than c.1024C>T.3.Favism is the most common clinical feature of G6 PD deficiency.When acute hemolysis occurs,Gene mutation types may differ in reticulocyte rate and hemoglobin changes.