Rare Disease Report

Rare Disease Spotlight: Paroxysmal Nocturnal Hemoglobinuria

DECEMBER 15, 2015
Rebekah Harrison
Paroxysmal nocturnal hemoglobinura (PNH) is an acquired rare disorder characterized the complement system destructing red blood cells to early. Red blood cells are missing the PIG-A gene that allows glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells. PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane.
The worldwide prevalence is estimated in the range of 1–5 cases per million.


  • Abdominal pain
  • Headache
  • Difficulty swallowing
  • Back pain
  • Dark urine
  • Thrombosis
  • Bruising
  • Easy bleeding


  • Complete blood count- Red and white blood cell counts and platelet counts may be low.
  • Flow cytometry- checks for accelerating factors of the red and white blood cells.
  • Coombs test- detects antibodies against red blood count.
  • Haptoglobin test- measures haptoblobin to see the rate of red blood cell death.
  • Urinalysis


  • Monitor flow cytometry every 6 months
Medical Treatment
  • Soliris (eculizumab)- Soliris is indicated for the treatment of patients with paroxysmal nocturnal hemoglobinuria (PNH) to reduce hemolysis.
  • Warfarin- Given preventatively
  • Blood transfusion
Surgical Treatment


Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.