| A Case of G-6-PD Guadalajara |
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Gi Bum Lee1, Sun Ju Lee1, Yoo Jung Kim1, So Young Kim1, Hyun Hee Kim1, Bin Cho1, Wonbae 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 |
| G-6-PD Guadalajara 1례 |
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이기범1, 이선주1, 김유정1, 김소영1, 김현희1, 조빈1, 이원배1 |
1가톨릭대학교 의과대학 소아과학교실
1가톨릭대학교 의과대학 소아과학교실 |
Correspondence:
Wonbae Lee, Email: lwb@hfh.cuk.ac.kr
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| Abstract |
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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. |
| Key Words:
G-6-PD Guadalajara |
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