A new glucose-6-phosphate dehydrogenase variant G6PD sugao (826C -> T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth

A case of glucose-6-phosphate dehydrogenase (G6PD) deficiency associated wi th chronic hemolysis with episodes of hemolytic crisis immediately after bi rth is reported. The propositus was a 1-month-old Japanese male infant. Mol ecular analysis of the G6PD gene revealed a novel missense mutation (826C - ->T) in exon 8 predicting a single amino acid substitution, Pro276Ser. The mother was confirmed to be heterozygous for this mutation. We designated th is novel class 1 variant as G6PD Sugao. Pro276 is a phylogenetically conser ved residue that may play a significant role in dimer formation. (C) 2001 T he Japanese Society of Hematology.