Abstract
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 αLELY mutation, in trans to the α-spectrin mutation.
Highlights
Hereditary elliptocytosis (HE) is a congenital hemolytic disorder characterized by an elongated shape of erythrocytes [1,2,3].This disorder is the result of a defect in one of the cytoskeletal proteins in the red blood cells membrane that are usually responsible for the elasticity and durability of circulating erythrocytes
Hereditary elliptocytosis is a congenital hemolytic anemia characterized by the presence of oval shaped erythrocytes in the peripheral blood
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
Summary
Hereditary elliptocytosis (HE) is a congenital hemolytic disorder characterized by an elongated (cigar or oval) shape of erythrocytes [1,2,3]. We report a case of transient pure red blood cell aplasia as clinical presentation of HE in a patient with no history or laboratory evidence of hemolysis, who had been treated with phenytoin and valproate after a seizure episode without fever one month before admission. The history of neonatal jaundice and the previous cold-like syndrome, coupled with the PBS findings of severe poikilocytosis were compatible with transient pure red blood cell aplasia in recovery in a patient with some form of congenital hemolytic anemia. Hemoglobin electrophoresis, enzymes studies, high performance liquid chromatography, electrophoresis of red cell membrane proteins and aLELY mutation studies were carried out in the patient and his family These studies showed a 16%, 15% and 18% decrease in spectrin levels in the patient, his brother and his father, respectively, confirming the diagnosis of hereditary elliptocytosis. The father is heterozygous for the aLELY mutation trans to a-spectrin mutation
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