A Case of Glucose-6-phosphate dehydrogenase Riley Causing Hemolytic Anemia.
- Author:
Sang Wook PARK
1
;
Hee Jin LEE
;
Wonbae LEE
;
Kyung Tae WHANG
Author Information
1. Department of Pediatrics, Holy Family Hospital, Catholic University Medical College, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
G6PD Riley;
PCR-SSCP;
DNA sequencing
- MeSH:
Anemia, Hemolytic*;
Exons;
Glucose-6-Phosphate*;
Glucosephosphate Dehydrogenase*;
Heterozygote;
Humans;
Isoleucine;
Male;
Mothers;
Oxidoreductases;
Polymerase Chain Reaction;
Sequence Analysis, DNA;
Threonine
- From:Korean Journal of Hematology
1999;34(2):334-337
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A glucose-6-phoshate dehydrogenase variant called G6PD Riley was detected in an Korean boy with nonspherocytic hemolytic anemia. Using polymerase chain reaction based single-strand conformation polymorphism (PCR-SSCP) followed by DNA sequence analysis, we found mutation T to C at nucleotide 1139 in exon 10, resulting in a substitution of 380th amino acid isoleucine to threonine. The patient's mother was confirmed to be a heterozygote.
