All issues > Volume 47(2); 2004

Case Report

Korean J Pediatr. 2004;47(2):210-213. Published online February 15, 2004.

A Case of G-6-PD Guadalajara

Gi Bum GB Lee¹, Sun Ju SJ Lee¹, Yoo Jung YJ Kim¹, So Young SY Kim¹, Hyun Hee HH Kim¹, Bin B Cho¹, Wonbae WB Lee¹

¹Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
¹Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence Wonbae WB Lee ,Email: 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.

Keywords :G-6-PD Guadalajara