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Updated: Jul 3, 2026
Quantification of Colonic Stem Cell Mutations
Published on: September 25, 2015
A novel G6PD mutation leading to chronic hemolytic anemia
Jenny McDade1, Tatiana Abramova, Nicole Mortier
1Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA. jenny.mcdade@stjude.org
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.
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