Adiga, Deepa and Khadilkar, Urmila N and Kini, Jyoti R. and Babannavar, Prashantha B. and *, Chakrapani M (2014) Clinicopathological Diversity of Paroxysmal Nocturnal Hemoglobinuria Clone- A case series. International Journal of Advanced Research, 2 (7). pp. 650-653. ISSN 2320-5407

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Abstract

Introduction: Paroxysmal nocturnal hemoglobinuria [PNH] is a rare hematopoietic stem cell disorder characterized by a somatic mutation in the PIGA gene, leading to a deficiency of proteins linked to the cell membrane via glycophosphotidylinositol [GPI] anchors. It can arise denovo or in a setting of aplastic anemia. We hereby report our experience with six cases of PNH diagnosed by flow cytometry. Material and methods: The present study was a retrospective study of six cases referred to Kasturba Medical College Hospital, Jyothi circle and Attavar who were diagnosed as Paroxysmal Nocturnal Hemoglobinuria. The details of the cases with regard to age, sex, presenting symptoms, clinical and laboratory findings were obtained from the hospital records. The final diagnosis of PNH was made based on the sensitive flow cytometry test. Results: Majority had hematuria as one of the presenting symptom. Two of the patients were known cases of aplastic anemia that clonally evolved to PNH. Peripheral smear examination showed pancytopenia in three of the cases while the rest showed anemia. Bone marrow examination was done in three cases which showed hypoplastic marrow in two of them. Flow cytometry of the peripheral blood sample showed more than 5% of granulocytes with PNH clone in all the cases. Conclusion: Flow cytometry is now widely accepted as the method of choice for detecting GPI-anchor protein-deficient clones in clinical, subclinical PNH and related bone marrow disorders. Clinical and laboratory findings together should raise the suspicion for PNH, and to proceed for diagnosis by flow cytometry.

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