Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants

摘要

We present a rapid strategy based on Restriction Fragment Length Polymorphism (RFLP) analysis to characterize the more frequent glucose 6-phosphate dehydrogenase (G6PD) variants observed in a population with high gene flow. During a study involving more than 600 patients, we observed mainly G6PD A - (c.202GA, c.376AG; p.Val68Met, p.Asn126Asp), G6PD Mediterranean (Med) (c.563CT, p.Ser188Phe), and G6PD Betica (c.376AG, 542AT; p.126AsnAsp, 181AspVal) with addition of a few rare ones. A number of 10 abnormalities amounted to 92% of all the molecular defects. In addition, seven new mutations were found: three presented with acute hemolytic anemia following oxidative stress [G6PD Nice (c.1380GC, p.Glu460Asp), G6PD Roubaix (c.811GC, p.Val271Leu), and G6PD Toledo (c.496CT, p.Arg166Cys)], three with different degrees of chronic hemolytic anemia [G6PD Lille (c.821AT, p.Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367AT, p.Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132GA, p.Gly378Ser).