Case Report: Possible Paroxysmal Nocturnal Hemoglobinuria with Pronounced Pancytopenia, Reticulocytopenia, and without Hemoglobinuria Simulating Aplastic Anemia

1. This paper describes a case of chronic severe anemia with very pronounced neutropenia and thrombocytopenia and a varying degree of reticulocytopenia. Crosby’s modification of the Ham test for paroxysmal nocturnal hemoglobinuria proved to be strongly positive. Despite a prolonged period of observation no unquestionable hemoglobinuria was found, but slight hemoglobinemia was found. As the serum bilirubin was normal and there was no reticulocytosis an ordinary hematologic examiation could not have revealed the hemolytic nature of the anemia.

Because of the pronounced pancytopenia and the lack of response to all therapy, the case would presumably have been classified as one of aplastic or "refractory" anemia.

2. The supposition suggests itself that other cases of aplastic or "refractory" anemia and of hemolytic anemia without hemoglobinuria are actually atypical forms of paroxysmal nocturnal hemoglobinuria. The hemoglobinuria in this disease is an immaterial symptom. It should be possible to reveal such atypical cases by means of Ham’s and Crosby’s tests.

3. Pancytopenia is seen not only in the so-called hypersplenic hemolytic anemia, in which the bone marrow is hyperplastic but in congenital hemolytic anemia during crisis and in certain cases of auto-immune acquired hemolytic anemia. It is therefore possible that other forms of hemolytic anemia may be cloaked by a picture of "aplastic anemia."

4. From the standpoint of therapy, it is naturally important to settle the question as to the true nature of the anemia. In congenital and in hypersplenic hemolytic anemia, splenectomy exerts a curative effective; in acquired hemolytic anemia caused by antibodies, treatment with ACTH and cortisone will be effective in many cases; and, finally, in PNH no therapy other than transfusions is presently available.