%0 Journal Article %T Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia. %+ Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07) %+ Service de Biochimie [Mondor] %+ Institut Mondor de Recherche Biomédicale (IMRB) %+ Hôpital Universitaire Aziza Othmana [Tunis] %+ Hôpital Ben Arous %A Benmansour, Ikbel %A Moradkhani, Kamran %A Moumni, Imen %A Wajcman, Henri %A Hafsia, Raouf %A Ghanem, Abderraouf %A Abbès, Salem %A Préhu, Claude %< avec comité de lecture %@ 1079-9796 %J Blood Cells, Molecules and Diseases %I Elsevier %V 50 %N 2 %P 110-114 %8 2012-09-07 %D 2012 %R 10.1016/j.bcmd.2012.08.005 %M 22963789 %K G6PD deficiency %K G6PD mutations %K G6PG Tunis %K G6PD Nefza %Z Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismJournal articles %X 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. %G English %2 https://riip.hal.science/pasteur-00732993/document %2 https://riip.hal.science/pasteur-00732993/file/2298.pdf %L pasteur-00732993 %U https://riip.hal.science/pasteur-00732993 %~ RIIP %~ APHP %~ RIIP_TUNIS %~ IMRB %~ UPEC