30. Paroxysmal Nocturnal Hemoglobinuria (PNH) Analysis

  1. Kandice Kottke-Marchant MD, PhD2,3,4 and
  2. Bruce H. Davis MD5
  1. Stephen J. Richards PhD, FRCPath

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch30

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Richards, S. J. (2012) Paroxysmal Nocturnal Hemoglobinuria (PNH) Analysis, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch30

Editor Information

  1. 2

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 3

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 4

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 5

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. Department of Haematology, St James's Institute of Oncology, Leeds Teaching Hospitals NHS Trust, Leeds, UK

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595



  • PNH;
  • hemolytic anemia;
  • flow cytometry;
  • GPI-proteins;
  • CD59;
  • FLAER;
  • eculizumab;
  • hemoglobinuria;
  • thrombosis


Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disorder closely related to aplastic anemia. Its main clinical manifestations are hemolytic anemia, bone marrow failure, and life-threatening thrombosis. Rapid diagnosis is essential and flow cytometry plays a prominent role in the laboratory investigation of PNH. The availability of a rapid diagnostic test means that for patients with suspected PNH, a definitive diagnosis can be rapidly established by demonstrating the absence of cell membrane glycosylphosphatidylinositol (GPI)-anchored proteins from granulocytes and/or erythrocytes. With the successful development and clinical trial of a complement inhibition-based monoclonal antibody therapy (eculizumab) for PNH, accurate and timely diagnosis can have a considerable impact on patient management and outcome.