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.
RESULTS: 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.
CONCLUSION: