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Diagnosing PNH
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Paroxysmal nocturnal haemoglobinuria (PNH) can be difficult to suspect because it is a rare disease and has a range of symptoms that are similar to those of other diseases, including fatigue, breathlessness, anaemia and abdominal pain.1,2 

Doctors will assess a patient’s symptoms and perform a number of different tests to exclude the possibility of other diseases and to confirm the diagnosis of PNH.
The diagnosis of PNH can be confirmed by a specialised laboratory test, called high sensitivity flow cytometry, which detects the percentage of PNH blood cells that lack the protective anchored proteins.1,3

Other laboratory tests that may be used to confirm a diagnosis of PNH include:
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After undergoing testing, patients will need to discuss the results of their diagnostic tests as well as next steps with their healthcare professionals.
Szlendak U, Budziszewska B, Spychalska J, et al. Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment. Pol Arch Intern Med 2022;132:16271. Brodsky, R. A. Paroxysmal Nocturnal Hemoglobinuria. In Hematology: Basic Principles and Practice (pp. 415–424). 2018. Brando B, Gatti A, Preijers F. Flow cytometric diagnosis of paroxysmal nocturnal hemoglobinuria: pearls and pitfalls – a critical review article. EJIFCC 2019;30:355–70. Parker CJ. Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria. Hematology Am Soc Hematol Educ Program 2016:208–16. Kulasekararaj AG, Kuter DJ, Griffin M, et al. Biomarkers and laboratory assessments for monitoring the treatment of patients with paroxysmal nocturnal hemoglobinuria: Differences between terminal and proximal complement inhibition. Blood Rev 2023;59:101041. Kulasekararaj AG, et al. The importance of terminal complement inhibition in paroxysmal nocturnal hemoglobinuria, Therapeutic Advances in Hematology, 2022. Tortora G. Principles of Anatomy & Physiology. Wiley. 2017. Ch19 668–694.