Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis

Abstract

We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein surface (G6PD Figueira da Foz).