Bulletin Nº112- December 2020
Diagnosis and Follow-up of Paroxysmal Nocturnal Hemoglobinuria by Flow Cytometry
Paroxysmal Nocturnal Hemoglobinuria (PNH) is the name given to the disease caused due to an acquired genetic mutation in the PIG-A gene which results in the reduction or absence of membrane proteins of the affected hematopoietic cells.
This mutation affects proteins involved in the interaction with complement regulators (CD55 and CD59) .This loss of complement regulation is especially sensitive on red cells resulting on severe pathophysiology episodes of the disease by causing episodes of intravascular and extravascular hemolysis.
Flow cytometry is the method recommended by current clinical guidelines.By Marking membrane proteins of different hematopoietic series affected celular clones are detected ,thus allowing not only their diagnosis but also their follow-up and monitoring.