Copper deficiency with 20q deletion and a paroxysmal nocturnal haemoglobinuria clone presenting with bicytopenia

Rekha Bhat, Swati Pai, Ashish Dixit
Indian Journal of Hematology & Blood Transfusion 2014, 30 (Suppl 1): 372-5
Copper plays an essential role in numerous enzymatic reactions in the human body and hypocupremia manifests itself as cytopenias and/or neuropathy. Copper deficiency is also a mimic of dysplasia, and this may cause diagnostic difficulties with true myelodysplasia. In this case report, we present a patient with anaemia, thrombocytopenia and marginally decreased leucocyte count, who was found to have low copper levels. In addition, he had isolated 20q deletion and a small paroxysmal nocturnal haemoglobinuria clone, which have not been reported previously. His counts normalized after steroid therapy followed by copper supplementation. This case is presented to highlight the fact that copper deficiency may be present without the characteristic morphologic changes, and may be coexisting with other abnormalities.

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