Korean J Pediatr.
2004 Feb;47(2):210-213.
A Case of G-6-PD Guadalajara
- Affiliations
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- 1Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. lwb@hfh.cuk.ac.kr
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.
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