1.Genotypic and phenotypic analysis of glucose-6-phosphate dehydrogenase in blood donors and recipients in Dongguan region and its clinical applications
Aijiao DING ; Yanping FANG ; Huibing LI ; Zhaoying SU ; Jianfen LING ; Lingxiao JIANG
International Journal of Laboratory Medicine 2025;46(20):2433-2438,2445
Objective To preliminarily analyze the genotypic and phenotypic characteristics of glucose-6-phosphate dehydrogenase(G6PD)in blood donors and recipients in Dongguan region,as well as the impact of these characteristics on the efficacy of blood transfusion therapy.Methods A total of 351 pairs of blood sam-ples from donors and recipients were collected from the Tenth Affiliated Hospital of Southern Medical Uni-versity/Dongguan People's Hospital between May and November in 2023.These samples were tested for G6PD genotype,G6PD enzyme activity,erythrocyte osmotic fragility,and blood routine parameters.Addition-ally,hemoglobin levels before and after blood transfusion were collected from recipients for statistical analy-sis.Results The carrier rates of G6PD mutant genes among donors and recipients in Dongguan region were 6.84%and 5.83%,respectively.Six mutation sites were identified,with c.1388G>A,c.1376G>T,and c.95A>G accounting for 84.09%of all mutations.A negative correlation was observed between G6PD activi-ty and blood storage duration in wild-type donors.The G6PD activity significantly decreased when blood from healthy donors was transfused into recipients through standard procedures.Recipients carrying c.1388G>A,c.1376G>T,c.95A>G,c.871G>A,c.1024C>T mutation sites showed no statistically significant difference in hemoglobin increment after receiving blood from donors carrying c.1388G>A,c.1376G>T,c.95A>G,c.871G>A,c.1376G>T/c.1360C>T,or c.1388G>A/c.95A>G mutation sites.In the internal medicine re-strictive transfusion group,recipients who received blood with enzyme activity≥1300 U/L demonstrated a significantly greater increase in hemoglobin levels compared to those transfused with blood with enzyme activ-ity<1 300 U/L(P=0.042).Conclusion The carrier rates of G6PD mutant genes among donors and recipi-ents in Dongguan region are both above 5.00%,indicating a relatively high carriage rate.The three primary mutation sites,c.1388G>A,c.1376G>T,and c.95A>G,account for over 80.00%of all mutations.No ad-verse effects on treatment efficacy are observed in recipients carrying G6PD mutant genes after receiving blood from donors with G6PD mutant genes.However,in restrictive transfusion practices within internal medicine,recipients receiving blood with low G6PD enzyme activity demonstrate a reduced hemoglobin increase per unit compared to those receiving blood with normal G6PD enzyme activity.

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