Paroxysmal Nocturnal Hemoglobinuria (PNH)

Carlos DeCastro, MD

Institution
Duke University Medical Center
Physician Status
accepting new patients
Primary Disease Area of Focus
Acute Myeloid Leukemia (AML)
Aplastic Anemia
Myelodysplastic Syndromes (MDS)
Paroxysmal Nocturnal Hemoglobinuria (PNH)

Detection of paroxysmal nocturnal hemoglobinuria (PNH) in bone marrow aspirates

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired condition in which, due to a mutation of the phosphatidylinositol glycan class A gene, hematopoietic cells lack proteins that are normally anchored to the cell surface by glycosylphosphatidylinositol (GPI). Thus, PNH cells show poor expression of surface proteins, such as CD55 and CD59, and dim or absent binding of fluorescently labeled modified aerolysin (FLAER). In clinical diagnostic laboratories, the detection and quantitation of PNH is currently performed by flow cytometry (FC) analysis of peripheral blood (PB) samples.
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