Path to Diagnosis of Paroxysmal Nocturnal Hemoglobinuria: The Results of an Exploratory Study Conducted by the Aplastic Anemia and MDS International Foundation and the National Organization for Rare Disorders Utilizing an Internet-Based Survey

Paroxysmal Nocturnal Hemoglobinuria (PNH) is an ultra-rare bone marrow failure state characterized by hemolytic anemia, cytopenias, and serious thrombohemorrhagic complications, resulting in significant comorbidities and shorter survival compared with that of the general population [1-3]. The prevalence of PNH worldwide, regardless of ethnicity, is estimated at 1-5 cases per million [4]. PNH occasionally occurs in conjunction with other bone marrow failure states such as Aplastic Anemia (AA) and Myelodysplastic Syndromes (MDS). Symptoms of PNH can be nonspecific and quite variable among individuals and can pose diagnostic and therapeutic challenges for healthcare providers, often resulting in missed or delayed diagnoses. Although often times nonspecific, symptoms have been associated with serious consequences and can significantly impact patient’s quality of life and survival [5].