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Arch Iran Med March. 2020;23(3): 207-210.
  Abstract View: 108
  PDF Download: 190

Case Report

Variable Presentation of Hereditary Spherocytosis in an Iranian Family

Reza Vahidi 1,2,3, Zahra Sheikhrezaei 4, Zahra Ameri 5,3,4, Morteza Khaleghi 6, Alireza Farsinejad 3,4 *

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.
Keywords: Anemia, Hereditary Spherocytosis, Membrane Proteins
Cite this article as: Vahidi R, Sheikhrezaei Z, Ameri Z, Khaleghi M, Farsinejad A. Variable presentation of hereditary spherocytosis in an Iranian family. Arch Iran Med. 2020;23(3):207–210.
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Submitted: 12 Jul 2018
Accepted: 16 Feb 2019
ePublished: 01 Mar 2020
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