Scerening of the frequency of paroxysmal nocturnal hemoglobinuria (PNH), associated with thrombosis, hemolytic anemia and aplasia, in groups with different clinical findings and suggesting PNH

Purpose:Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare disease. Due to variable and complicated clinic, there are delays in the diagnosis. Morbidity and mortality are high and can be prevented in case of early recognition. For this reason, we aimed to keep a projection forthe future by determing which risk groups the disease is more frequent. Materials and Methods:The most risky groups in terms of PNH were identified in the literature. A total of 116 patients (70 female and 46 male) who were determined to be included in these risk gorups in Manisa provience were examined for PNH clone. Forthis purpose, PNH scanning was performed by the FLAER method which is accepted as the gold standart today. Findings:PNH clones were detected in 12 of 116 patients included in the study. Clones were found more frequently in patients with elevated LDH with bone marrow aplasia. PNH clone was found in patients with intravasculer hemolysis. PNH clones were not detected in patients with portal, splenic and mesenteric vein thrombosis. Eculizumab was initiated in four patients who detected a PNH clone. Seven patients are followed up with clones by 6 months interval. Results:PNH is a progressive, morbidly and mortal disease with variable onset and course. Patients with bone marrow aplasia/hipoplasia and patients with unexplained cytopenia, MDS-refractor anemia, thrombosis with unusual sites associated with LDH elevation or intravasculer hemolysis should be screened for PNH. In our study, in patients with thrombosis, the PNH clone may have been found to be less than the deficiency of our criteria or patient count. There is a need for large-scale and multicenter studies involving more patients to determine the frequency of the disease and to identify risk groups. Key Words: Paroxysmal Nocturnal Hemoglobinuria, anemia, thrombosis