Hero patient

Living with PNH

Living with PNH

Measuring success

Professor Jeff Szer, Chair of the Australian Bone Marrow Donor Registry, considers treatment success in PNH patients

It can take a long time to make a diagnosis of PNH as it is a very rare illness that many doctors will not be familiar with. Many of the symptoms of PNH are common to numerous other diseases; because of the wide range of symptoms they might have, PNH patients may initially be seen by a wide range of specialists (such as urologists, cardiologists and neurologists) before their condition is recognised as a blood and bone marrow problem so they can be referred to a haematologist.1,2

Initial diagnosis

PNH should be confirmed with peripheral blood flow cytometry to determine the absence or severe deficiency of GPI-anchored proteins on at least two or more lineages of blood cells.3

blood cells
Patient and doctor

Ongoing diagnosis

Doctors may recommend further flow cytometry testing to monitor progression. In addition, other tests for monitoring the disease include:

  • Lactate dehydrogenase (LDH) assay – LDH is an established biomarker of intravascular haemolysis in PNH.1,3
  • Complete blood count (CBC) – The CBC indicates the counts of white blood cells, red blood cells and platelets, and the concentration of haemoglobin.1

  1. Lima M. Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry. Pract Lab Med 2020;20.
  2. Mitchell R, Salkeld E, Chisolm S, et al. Path to Diagnosis of Paroxysmal Nocturnal Hemoglobinuria: The Results of an Exploratory Study Conducted by the Aplastic Anemia and MDS International Foundation and the National Organization for Rare Disorders Utilizing an Internet-Based Survey. SM Clin Med Oncol 2017;1:1001.
  3. Hill A, DeZern AE, Kinoshita T & Brodsky RA. Paroxysmal nocturnal haemoglobinuria. Nat Rev Dis Primers 2017;3:17028.

CBC: Complete blood count; GPI: Glycosylphosphatidylinositol; LDH: Lactate dehydrogenase; PNH: Paroxysmal nocturnal haemoglobinuria

Job code: PP-17758 | Date of preparation: March 2023

Intended for healthcare professional only