The first splice site mutation associated with erythrocyte glucose phosphate isomerase deficiency

Glucose phosphate isomcrase GPI deficiency is the third most frequent cause of hereditarv hemorytic anemia due to 2 defective enzyme. So far more than forty different biochemical variants have been reported but only eight of them were characterized at the molecular level. We have studied four unrelated Italian patients with GPI deficiency Using intronic primers we were able to identify the gene alterations in the four patients (301 A/301 A. 1028G/1028G. 584T/286T. 5S4T/del 1473-Ivsl6 (+2)) All were new but I028G. already identified in GPI Narita Del I473-1 vs 16 (+2). located in the junction of exon/intron 16