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.

Ikbel Benmansour (1) , Kamran Moradkhani (2, 3) , Imen Moumni (1) , Henri Wajcman (3) , Raouf Hafsia (4) , Abderraouf Ghanem (5) , Salem Abbès (1) , Claude Préhu (2, 3)

1 LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire
2 Service de Biochimie [Mondor]
3 IMRB - Institut Mondor de Recherche Biomédicale
4 Hôpital Universitaire Aziza Othmana [Tunis]
5 Hôpital Ben Arous

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.

Mots clés: G6PD deficiency; G6PD mutations; G6PG Tunis; G6PD Nefza

Domaines: Endocrinologie et métabolisme

Ikbel Benmansour, Kamran Moradkhani, Imen Moumni, Henri Wajcman, Raouf Hafsia, et al.. 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.. Blood Cells, Molecules and Diseases, 2012, 50 (2), pp.110-114. ⟨10.1016/j.bcmd.2012.08.005⟩. ⟨pasteur-00732993⟩