Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report

摘要

Hereditary elliptocytosis is a congenital hemolytic anemia characterized by the presence of oval shaped erythrocytes in the peripheral blood. In rare cases, transient pure red blood cell aplasia can be the initial clinical presentation.We report a case of a 27-month-old boy admitted with fever without focus, severe poikilocytic anemia, no evidence of hemolysis, a normocelular bone marrow and negative serological tests for viral infections. One month before admission, he had been treated with phenytoin and valproate after a seizure episode without fever.Analysis of red cell membrane proteins showed a 16% decrease in spectrin levels, also detected in his father and brother, confirming the diagnosis of elliptocytosis.Only his father carried the α^LELY mutation, in trans to the α-spectrin mutation.