A new glucose-6-phosphate dehydrogenase variant G6PD Sugao (826C-->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth.
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.
Taki
M
M
Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan. m2taki@marianna-u.ac.jp
Hirono
A
A
Kawata
M
M
Den
M
M
Kurihara
Y
Y
Shimizu
H
H
Yamada
K
K
Fujii
H
H
Miwa
S
S
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation