title: Copper deficiency with 20q deletion and a paroxysmal nocturnal haemoglobinuria clone presenting with bicytopenia.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Manipal Hospital, 98 Rustom Bagh, Old Airport Road, Bangalore, 560017 India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Bhat
authors.affiliation: Department of Laboratory Medicine, Manipal Hospital, 98 Rustom Bagh, Old Airport Road, Bangalore, 560017 India.
authors.forename: Swati
authors.initials: S
authors.lastname: Pai
authors.affiliation: Department of Hematology, Medical Oncology and Transplant Manipal Hospital, Bangalore, India.
authors.forename: Ashish
authors.initials: A
authors.lastname: Dixit
keywords: 20q deletion; Copper deficiency; Isolated 20qdel; PNH; Paroxysmal nocturnal haemoglobinuria