A Case of Glucose-6-phosphate dehydrogenase Riley Causing Hemolytic Anemia / 대한혈액학회지

A glucose-6-phoshate dehydrogenase variant called G6PD Riley was detected in an Korean boy with nonspherocytic hemolytic anemia. Using polymerase chain reaction based single-strand conformation polymorphism (PCR-SSCP) followed by DNA sequence analysis, we found mutation T to C at nucleotide 1139 in exon 10, resulting in a substitution of 380th amino acid isoleucine to threonine. The patient's mother was confirmed to be a heterozygote.