Baseline characteristics, clinical profile and outcomes of PATIENTS with PARoxysmal nocturnal hemoglobinuria a single center experience in south india

Paroxysmal nocturnal hemoglobinuria is a rare, nonmalignant, acquired disease that manifests as hemolytic anemia, bone marrow failure and thrombosis that occurs due to a somatic mutation in the PIG-A gene. Here, regardless of treatment, we assessed the baseline characteristics and clinical profile of patients with a confirmed paroxysmal nocturnal hemoglobinuria diagnosis or detectable paroxysmal nocturnal hemoglobinuria clone. A total of 16 patients, 10 male and 6 females, who presented to our center between April 2016 to March 2020 and diagnosed with paroxysmal nocturnal hemoglobinuria were provided treatment for the management of their condition. Information regarding patients’ medical and treatment history, comorbid conditions, paroxysmal nocturnal hemoglobinuria clone size, disease characteristics and outcomes, symptoms, paroxysmal nocturnal hemoglobinuria-specific treatments, paroxysmal nocturnal hemoglobinuria-related events, morbidity, mortality, and quality of life were collected. Data including hemoglobin levels, transfusion requirements, renal dysfunction, thrombotic events and other laboratory data were collected. Frequently reported symptoms included fatigue (75%), dyspnea (44%), hemoglobinuria (25%), and abdominal pain (44%) with an overall 44% hospitalization rate due to related complications. Median granulocyte PNH clone size was 36.3% (range 14-78 percent). Overall, 37.5% patients had classical paroxysmal nocturnal hemoglobinuria and 62.5% patients had paroxysmal nocturnal hemoglobinuria with secondary bone marrow disorders. Post individualized therapy; the mortality rate was 18.75%. Presently 13 patients are on follow up with either steroids (38.5%), steroids with danazol (23%), cyclosporine (7.7%), thalidomide (7.7%), or intermittent blood product support (23%). The data from this study can be used to identify the patterns that would indicate the necessity for a diagnosis of paroxysmal nocturnal hemoglobinuria and to identify the diagnostic outcomes.