Paroxysmal nocturnal hemoglobinuria diagnostic study of choice

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Diagnostic Study of Choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Diagnostic Study of Choice

Minimal essential diagnostic criteria

• Diagnosis of paroxysmal nocturnal hemoglobinuria is based on the minimal essential diagnostic criteria. The main diagnostic test for this criteria is flow cytometry.
• The flow cytometry approach is used to reveal the deficiency of GPI anchor on the RBCs.
• Other measures used in the diagnostic criteria include the folllowing:
  • Assessment of the hemolytic parameters
  • Bone marrow examination
• Supporting tests are included also in order to detect the PNH category. Below tables conclude both supporting tests and categories of PNH .

Category of PNH	Characteristics
1- Classic PNH	Intravascular hemolysis evident No another bone marrow disorder Bone marrow morphology is normal with erythroid hyperplasia No karyotype abnormality
2- PNH in the setting of another specified bone marrow disorder	Intravascular hemolysis evident History of defined bone marrow abnormality This category used to determine if the PNH is secondary to aplastic anemia or myelodysplastic syndrome A chromosomal abnormality may be associated with myelodysplastic syndrome
3- Subclinical PNH	No evidence of hemolysis Patients with subclinical PNH are detected by the flow cytometric analysis Mostly associated with bone marrow failure