A Case of G-6-PD Guadalajara.
- Author:
Gi Bum LEE
1
;
Sun Ju LEE
;
Yoo Jung KIM
;
So Young KIM
;
Hyun Hee KIM
;
Bin CHO
;
Wonbae LEE
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. lwb@hfh.cuk.ac.kr
- Publication Type:Case Report
- Keywords:
G-6-PD Guadalajara
- MeSH:
Anemia, Hemolytic;
Cytosine;
Erythrocytes;
Exons;
Glucose-6-Phosphate;
Humans;
Jaundice;
Male;
Point Mutation;
Thymidine
- From:Korean Journal of Pediatrics
2004;47(2):210-213
- CountryRepublic of Korea
- Language:Korean
-
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.
