Abstract
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder, characterized by the deficiency of glycosylphosphatidylinositol (GPI) that anchors proteins in cell membranes. PNH is manifest variously with hemoglobinuria, thrombosis, or bone marrow failure. This retrospective study was aimed at assessing the incidence and characteristics of patients diagnosed with PNH in the King Fisal Specialist Hospital and research center.
Patients referred for PNH diagnosis at King Faisal Specialist Hospital and Research Centre, Riyadh, during the 2-year period (2012-2013) were included in the analysis. Peripheral blood samples were used for multi-parametric flow cytometry analysis based on fluorescent inactive aerolysin (FLAER), and the markers, CD235a and CD59 on red blood cells (RBCs), and CD14, CD45, CD64, CD24, and CD15 on white blood cells (WBCs) exclusively monocytes and granulocytes. Univariate analysis of the disease characteristics was performed.
Of the 366 samples submitted for PNH screening, 14 were positive (4%) and 11 were evaluable. Of the 11 patients analyzed, 8 patients (73%) presented with aplastic anemia, 1 patient (9%) each with pancytopenia, Budd-Chiari syndrome, and immune thrombocytopenia purpura. All samples showed type II and III GPI-deficient clones with a median clone size of 15% (range, 0.7%-56%) in the RBCs, and 63% (range, 3.8%-100%) in WBCs (monocytes and granulocytes).
This study confirms the rarity of PNH and its predominant presentation as aplastic anemia or thrombosis in a Saudi Arabian population, similar to the worldwide incidence.