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

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 2 (c.202G>A, c.376A>G; p. Val68Met, p. Asn126Asp), G6PD Mediterranean (Med) (c.563C>T, p. Ser188Phe), and G6PD Betica (c.376A>G, 542A>T; p. 126Asn>Asp, 181Asp>Val) 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.1380G>C, p. Glu460Asp), G6PD Roubaix (c.811G>C, p. Val271Leu), and G6PD Toledo (c.496C>T, p. Arg166Cys)], three with different degrees of chronic hemolytic anemia [G6PD Lille (c.821A>T, p. Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367A>T, p. Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132G>A, p.Gly378Ser).