Reza Vahidi1,2,3, Zahra Sheikhrezaei4, Zahra Ameri5,3,4, Morteza Khaleghi6, Alireza Farsinejad3,4. 1. Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran. 2. Research Center for Hydatid Disease in Iran, Kerman University of Medical Sciences, Kerman, Iran. 3. Cell Therapy and Regenerative Medicine Comprehensive Center, Kerman University of Medical Sciences, Kerman, Iran. 4. Department of Hematology and Medical Laboratory Sciences, Faculty of Allied Medicine, Kerman University of Medical Sciences, Kerman, Iran. 5. Department of Tissue Engineering and Regenerative Medicine, Faculty of Advanced Technologies in Medicine, Iran University of Medical Sciences, Tehran, Iran. 6. Pathology and Stem Cell Research Center, Kerman University of Medical Sciences, Kerman, Iran.
Abstract
Hereditary spherocytosis (HS), a familial defect involving red blood cell (RBC) membrane proteins, is associated with reduced deformability, increased fragility, and progressive destruction of spherical cells. The present study focuses on three subjects of a family showing a history of repeated episodes of lethargy and pallor of unknown etiology. All patients displayed reticulocytosis and spherocytosis and one of them had anemia and splenomegaly. The patients underwent screening tests to rule in/out possible underlying disorders, and deficiency/dysfunction of RBC membrane proteins was suspected. Definitive diagnosis can be made on the basis of membrane protein analysis by quantitative sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Interestingly, all patients showed marked decrease in the protein 4.2 expression and therefore, HS was confirmed. This case report highlights the simultaneous occurrence of protein 4.2-dependent "typical" and "atypical" HS in a family and serves as a reminder to clinicians to consider RBC membrane disorders in patients presenting with suspicious and unexplained clinical signs.
Hereditary spherocytosis (HS), a familial defect involving red blood cell (RBC) membrane proteins, is associated with reduced deformability, increased fragility, and progressive destruction of spherical cells. The present study focuses on three subjects of a family showing a history of repeated episodes of lethargy and pallor of unknown etiology. All patients displayed reticulocytosis and spherocytosis and one of them had anemia and splenomegaly. The patients underwent screening tests to rule in/out possible underlying disorders, and deficiency/dysfunction of RBC membrane proteins was suspected. Definitive diagnosis can be made on the basis of membrane protein analysis by quantitative sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Interestingly, all patients showed marked decrease in the protein 4.2 expression and therefore, HS was confirmed. This case report highlights the simultaneous occurrence of protein 4.2-dependent "typical" and "atypical" HS in a family and serves as a reminder to clinicians to consider RBC membrane disorders in patients presenting with suspicious and unexplained clinical signs.