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Case Reports
. 2001 Aug;74(2):153-6.
doi: 10.1007/BF02981998.

A new glucose-6-phosphate dehydrogenase variant G6PD Sugao (826C-->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth

M Taki  1 , A Hirono, M Kawata, M Den, Y Kurihara, H Shimizu, K Yamada, H Fujii, S Miwa
Affiliations
Case Reports

A new glucose-6-phosphate dehydrogenase variant G6PD Sugao (826C-->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth

M Taki et al. Int J Hematol. 2001 Aug.

Abstract

A case of glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolysis with episodes of hemolytic crisis immediately after birth is reported. The propositus was a 1-month-old Japanese male infant. Molecular analysis of the G6PD gene revealed a novel missense mutation (826C-->4T) in exon 8 predicting a single amino acid substitution, Pro276Ser. The mother was confirmed to be heterozygous for this mutation. We designated this novel class 1 variant as G6PD Sugao. Pro276 is a phylogenetically conserved residue that may play a significant role in dimer formation.

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