Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

Sissel Holme, Richard van Wijk, Andreas Ørslev Rasmussen, Jesper Petersen, Andreas Glenthøj*

*Corresponding author for this work


BACKGROUND: Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia, jaundice, splenomegaly, gallstones, cholecystitis, and in severe cases, neurological impairments, hydrops fetalis, and neonatal death.

CASE PRESENTATION: This paper details the case of the first Danish patient diagnosed with glucose-6-phosphate isomerase deficiency. The patient, a 27-year-old white female, suffered from lifelong anemia of unknown origin for decades. Diagnosis was established through whole-genome sequencing, which identified two GPI missense variants: the previously documented variant p.(Thr224Met) and a newly discovered variant p.(Tyr341Cys). The pathogenicity of these variants was verified enzymatically.

CONCLUSIONS: Whole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.

Original languageEnglish
Article number130
JournalJournal of Medical Case Reports
Issue number1
Pages (from-to)130
Publication statusPublished - 28 Mar 2024


  • Infant, Newborn
  • Humans
  • Female
  • Adult
  • Glucose-6-Phosphate Isomerase/genetics
  • Anemia, Hemolytic
  • Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis
  • Phosphates
  • Glucose


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