Variable Presentation of Hereditary Spherocytosis in an Iranian Family.

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.

journal_name

Arch Iran Med

authors

Vahidi R,Sheikhrezaei Z,Ameri Z,Khaleghi M,Farsinejad A

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

207-210

issue

3

eissn

1029-2977

issn

1735-3947

pii

S1029-2977-23(03)207-0

journal_volume

23

pub_type

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