HAL will be down for maintenance from Friday, June 10 at 4pm through Monday, June 13 at 9am. More information
Skip to Main content Skip to Navigation
Journal articles

Biochemical, Cellular, and Proteomic Characterization of Hereditary Spherocytosis Among Tunisians

Abstract : Background/Aims: Hereditary Spherocytosis (HS) is the most common erythrocyte membrane disorder causing hemolytic anemia. The wide heterogeneity of both clinical and laboratory manifestations of HS contributes to difficulties associated with the diagnosis of this disorder. Although massive data previously reported worldwide, there is yet no data on HS among the Tunisian population. Here we aim to characterize HS in Tunisian patients at biochemical and cellular levels, identify the membrane protein deficiency, and compare the accuracy of the diagnostic tests to identify the most appropriate assay for HS diagnosis. Methods: We investigated 81 patients with hemolytic anemia and 167 normal controls. The exploration of HS based on clinical and family history, physical examination, and the results of laboratory tests: blood smear, osmotic fragility test (OFT), cryohemolysis test (CT), pink test (PT), eosine-5’-maleimide (EMA) test, and erythrocyte membrane protein electrophoresis. Results: We identified 21 patients with HS, classified as severe (6/21;28.5%), moderate (10/21;47.6%), and mild (5/21;23.8%). The most prevalent protein deficiency was the band 3 protein detected in ten Tunisian HS patients. The EMA test showed a high specificity (97.5%) and sensitivity (94.7%) for HS diagnosis compared to the other screening tests. Interestingly, fourteen among sixteen patients presenting with homozygous sickle cells HbSS showed an increase of EMA fluorescence intensity compared to other anemic patients. Conclusion: Our study highlights the efficiency of the EMA dye for the detection of HS whatever the nature of the involved protein deficiency. We report for the first time, the most prevalent protein deficiency among Tunisians with HS. Moreover, we found that the combination of the EMA-binding test with PT or incubated OFT improves the diagnosis sensitivity while maintaining a good specificity.
Document type :
Journal articles
Complete list of metadata

https://hal-riip.archives-ouvertes.fr/pasteur-03550661
Contributor : Abdelhakim Ben Hassine Connect in order to contact the contributor
Submitted on : Tuesday, February 1, 2022 - 11:02:24 AM
Last modification on : Thursday, February 3, 2022 - 12:09:34 PM
Long-term archiving on: : Tuesday, May 3, 2022 - 8:42:08 AM

File

03363.pdf
Publication funded by an institution

Licence


Distributed under a Creative Commons Attribution - NonCommercial - NoDerivatives 4.0 International License

Identifiers

Collections

Citation

Nawel Trabelsi, Ghada Bouguerra, Faten Haddad, Monia Ouederni, Imen Darragi, et al.. Biochemical, Cellular, and Proteomic Characterization of Hereditary Spherocytosis Among Tunisians. Cellular Physiology and Biochemistry, Karger, 2021, 55 (1), pp.117 - 129. ⟨10.33594/000000333⟩. ⟨pasteur-03550661⟩

Share

Metrics

Record views

6

Files downloads

3