Investigational workout for the diagnosis of paroxysmal nocturnal hemoglobinuria

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired rare disease that affects both males and females characterized by the triad of intravascular hemolytic anemia, thrombosis, and bone marrow failure. Flow cytometry is the gold standard for the final diagnosis. This is a PNH case of a 42-year-old Indonesian woman who presented to the emergency department with sustained generalized fatigability, pallor, and jaundice with a history of multiple recurrent previous events managed by blood transfusions. The diagnosis was reached by laboratory studies that revealed hemolytic anemia and erythroid hyperplasia, which was confirmed by a clonal deficiency of CD59 red blood cells (RBCs) using flow cytometry. She was prescribed eculizumab. Hemolytic anemia and jaundice in patients with PNH can be caused by RBCs hemolysis due to the absence of CD55 and CD59 proteins caused by a genetic defect (PIG-A) on the X chromosome. That is why flow cytometry must be made for each patient suspected of having PNH.

Keywords

• bone marrow failure
• clonal disorder
• glycosylphosphatidylinositol anchor
• hemolytic anemia
• jaundice
• paroxysmal nocturnal hemoglobinuria