Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive 
hemolytic anemia caused by a mutation in the G6PD gene on Xq28. Herein, we 
describe a Korean boy with G6PD deficiency resulting from a novel mutation in 
G6PD. A 20-month-old boy with hemolytic anemia was referred for molecular 
diagnosis. He had no relevant family history. The G6PD activity was severely 
decreased at 0.2 U/g Hb (severe deficiency). Direct sequencing analyses on the 
G6PD gene revealed that he was hemizygous for a novel missense variant, 
c.1187C>G (p.Pro396Arg), in exon 10 of G6PD. Family study involving his parents 
revealed the de novo occurrence of the mutation. This is the first report of 
genetically confirmed G6PD deficiency in Korea.