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A ghostly presence—G6PD deficiency

Morphology update has already drawn attention to the importance of irregularly contracted cells and hemighosts in suggesting the diagnosis of hemolysis due to glucose-6-phosphate dehydrogenase (G6PD) deficiency [1]. The current patient, a man of African ancestry, suffered an acute fall of his hemoglobin concentration from normal to 65 g/l following exposure to rasburicase. The mean cell hemoglobin concentration (MCHC) was 362 g/l. Rasburicase had been administered prior to chemotherapy for Burkitt lymphoma. Examination of the blood film showed irregularly contracted cells and hemighosts, some containing visible Heinz bodies. In addition, there were considerable numbers of ghost cells—empty red cell membranes bereft of hemoglobin (images). Within some of the ghost cells, Heinz bodies were visible (black arrows, Heinz bodies in ghost cells; blue arrow, other ghost cells; red arrows, Heinz bodies in hemighost cells). The increased MCHC is attributable to the presence of irregularly contracted cells but is not specific, it is also a feature of spherocytic anemia. G6PD assay was performed and was normal. Subsequent assay, after resolution of the hemolytic episode, confirmed G6PD deficiency, A2 variant. An assay is particularly likely to be normal shortly after acute hemolysis in the A2 variant because of the normal level of the enzyme in reticulocytes. The history in this patient is strongly suggestive of G6PD deficiency and confirmatory evidence is provided by the blood film. Together they avoid the risk of misinterpretation of the initially normal assay. The presence of ghost cells indicates recent acute intravascular hemolysis.