Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis

Raizl Gruda Sussman; Adam Paul Yan; Jillian M Baker

doi:10.1097/MPH.0000000000002544

Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis

J Pediatr Hematol Oncol. 2023 Jan 1;45(1):41-43. doi: 10.1097/MPH.0000000000002544. Epub 2022 Sep 12.

Authors

Raizl Gruda Sussman¹, Adam Paul Yan^{1

2}, Jillian M Baker^{1

3}

Affiliations

¹ The Hospital for Sick Children and University of Toronto, ON, Canada.
² Boston Children's Hospital, Harvard Medical School, MA.
³ Unity Health Toronto (St. Michael's Hospital), University of Toronto.

PMID: 36161881
DOI: 10.1097/MPH.0000000000002544

Abstract

Hereditary hemolytic anemias are a heterogenous group of disorders that include membranopathies, enzymopathies, and hemoglobinopathies. Genetic testing is helpful in the diagnostic workup when the clinical and laboratory workup is not conclusive. Here, we present a case of a 21-month-old female who was initially diagnosed with hereditary spherocytosis based on the presence of a variant of unknown significance in the SPTB gene. Further genetic workup revealed a homozygous glucose 6 phosphate isomerase mutation and the patient was ultimately diagnosed with glucose 6 phosphate isomerase deficiency.

Publication types

Case Reports

MeSH terms

Anemia, Hemolytic* / diagnosis
Anemia, Hemolytic* / genetics
Anemia, Hemolytic, Congenital* / diagnosis
Anemia, Hemolytic, Congenital* / genetics
Diagnostic Errors
Female
Glucose-6-Phosphate Isomerase / genetics
Humans
Infant
Metabolism, Inborn Errors*
Spherocytosis, Hereditary* / diagnosis
Spherocytosis, Hereditary* / genetics

Substances

Glucose-6-Phosphate Isomerase