title: A novel G6PD mutation leading to chronic hemolytic anemia.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an important cause of hemolytic anemia worldwide. Severely affected patients have chronic hemolysis with exacerbations following oxidative stress. Mutations causing severe chronic non-spherocytic hemolytic anemia (CNSHA) commonly cluster in Exon 10, a region important for protein dimerization. An African-American male presented at age 2 weeks with pallor and jaundice, and was found to have hemolytic anemia with G6PD deficiency. His severe clinical course was inconsistent with the expected G6PD A(-) variant. DNA sequencing revealed two common mutations (A(-)) and a third novel Exon 10 mutation. This inherited haplotype represents a novel triple G6PD coding mutation causing chronic hemolysis.
authors.affiliation: Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA. jenny.mcdade@stjude.org
authors.forename: Jenny
authors.initials: J
authors.lastname: McDade
authors.forename: Tatiana
authors.initials: T
authors.lastname: Abramova
authors.forename: Nicole
authors.initials: N
authors.lastname: Mortier
authors.forename: Thad
authors.initials: T
authors.lastname: Howard
authors.forename: Russell E
authors.initials: RE
authors.lastname: Ware
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics*; D002908:Chronic Disease; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; D005954:Glucosephosphate Dehydrogenase