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Glucose-6-phosphate dehydrogenase deficiency: the added value of cytology Volume 74, issue 3, Mai-Juin 2016

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Authors
1 Service d’hématologie biologique, Hôpital Robert Debré, AP-HP, Paris, France
2 Service de néphrologie pédiatrique, Hôpital Robert Debré, AP-HP, Paris, France
3 Département de génétique, Hôpital Robert Debré, AP-HP, Paris, France
4 Université Paris 7-Denis Diderot, Sorbonne Paris Cité, Paris, France
5 Inserm U1149, CRI, Faculté de médecine Bichat Claude Bernard, Paris, France
6 Laboratoire d’Excellence, GR-Ex, Paris, France

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.