• Reza Vahidi, Zahra Sheikhrezaei, Zahra Ameri, Morteza Khaleghi, and Alireza Farsinejad.
• Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran.
• Arch Iran Med. 2020 Mar 1; 23 (3): 207-210.

AbstractHereditary 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.© 2020 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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