文摘
We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females). The molecular analysis was performed by a combination of PCR-RFLP and DNA sequencing to characterize the mutations causing G6PD deficiency. 14 different genotypes have been identified : G6PD A? (376A > G;202G > A) (46.07 % ) and G6PD Med (33.10 % ) were the most common variants followed by G6PD Santamaria (5.80 % ), G6PD Kaiping (3.75 % ), the association [c.1311T and IVS11 93c] (3.75 % ), G6PD Chatham (2.04 % ), G6PD Aures (1.70 % ), G6PD A? Betica (0.68 % ), the association [ 376G;c.1311T;IVS11 93c] (0.68 % ), G6PD Malaga, G6PD Canton and G6PD Abeno respectively (0.34 % ). Two novel missense mutations were identified (c.920A > C: p.307Gln > Pro and c.968T > C: p.323 Leu > Pro). We designated these two class III variants as G6PD Tunis and G6PD Nefza. A mechanism which could account for the defective activity is discussed.