1.
Korean Journal of Pediatrics
;
: 210-213, 2004.
Article
in Korean
| WPRIM
| ID: wpr-125110
ABSTRACT
Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a disease that shows hemolytic anemia and jaundice caused by injury of erythrocytes. The gene of G-6-PD has 13 exons and locates in Xq28, and over 150 mutations of this gene have been reported. We experienced a G-6-PD deficienct male patient who was suffering hemolytic anemia and jaundice confirmed by measuring low G-6-PD activity in the erythrocytes. We found point mutation at 1159th nucleotide in 10th exon, cytosine was changed to thymidine, and was confirmed as G-6-PD Guadalajara.