A Family of Hereditary Spherocytic Elliptocytosis

Abstract

A rare case of hereditary spherocytic elliptocytosis was reported. The proband of 25 years-old-female had hemolytic anemia and abdominal pain. The blood smear and scanning electron microscopy revealed the presence mostly of ovalocytes and small number of microsherocyte and microcyte. The father also had the same red cell morphology, but hemolysis was compensated.
The red cell membrane protein analysis by SDS-PAGE revealed the deficiency of spectrin in the proband and protein 4.1 in her father. Splenectomy was performed in the proband, and hemolytic anemia improved.