Glucose-6-phosphate dehydrogenase deficiency: the added value of cytology

Ann Biol Clin (Paris). 2016 Jun 1;74(3):299-305. doi: 10.1684/abc.2016.1136.

Abstract

We report the case of a 2 year-old boy hospitalized into the emergency room for influenza pneumonia infection. The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure. First, a diagnosis of hemolytic uremic syndrome (HUS) has been judiciously suggested due to the classical triad: kidney failure, hemolytic anemia and thrombocytopenia. But, strikingly, blood smears do not exhibit schizocytes, but instead ghosts and hemighosts, some characteristic features of a glucose-6-phosphate dehydrogenase deficiency. Our hypothesis has been confirmed by enzymatic dosage and molecular biology. The unusual initial aplastic feature of this anemia could be the result of a transient erythroblastopenia due to the viral agent, at the origin of the G6PD crisis on a background of a major erythrocyte anti-oxydant enzyme defect. This case of G6PD defect points out the continuously importance of the cytology, which was able to redirect the diagnosis by the hemighost and ghost detection.

Keywords: G6PD deficiency; XE2100 Sysmex®; erythroblastopenia; ghosts; hemighosts; hemolytic anemia; influenza virus.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cytodiagnosis* / methods
  • Erythrocyte Membrane / pathology
  • Erythrocytes / pathology
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis*
  • Glucosephosphate Dehydrogenase Deficiency / pathology
  • Humans
  • Male
  • Predictive Value of Tests