Congenital thrombopathies in southern Tunisia : a multicenter study

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Published Jan 22, 2026
https://doi.org/10.62438/tunismed.v103i11.6139
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Vol. 103 No. 11 (2025): Tunis Med Nov 2025

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Ines Maaloul
Department of pediatrics . Hedi Chaker Hospital. Sfax Tunisia
Maha Charfi
Department of Hematology, Hedi Chaker Hospital. Sfax Tunisia
Ikram Ben Amor
Regional blood transfusion center. Sfax. Tunisia
Yosra Mejdoub
Preventive and Community Medicine Department, Hedi Chaker Hospital. Sfax Tunisia
Manel Hsairi
Department of pediatric emergency. Hedi Chaker Hospital. Sfax Tunisia
Faiza Safi
Pediatric intensive care unit. Hedi Chaker Hospital. Sfax Tunisia
Lamia Gargouri
Department of pediatric emergency. Hedi Chaker Hospital. Sfax Tunisia
Thouraya Kamoun
Department of pediatrics . Hedi Chaker Hospital. Sfax Tunisia
Moez Elloumi
Department of Hematology, Hedi Chaker Hospital. Sfax Tunisia

Abstract

Introduction : congenital thrombopathies (CTs) are rare bleeding disorders resulting from platelet dysfunction which may also be associated with thrombocytopenia. To date, the prevalence of CT in Tunisia has not been established.


Aim : The aim of this study was to describe the various types of CT and the associated hemorrhagic manifestations observed in a cohort from southern Tunisia.


Methods : We retrospectively collected clinical and laboratory data of patients with CT who were followed up over 43 years (1982 - 2024) in the pediatric and hematology departements of a university hospital center in southern Tunisia. The diagnosis of thrombopathy was established based on flow cytometry analysis and/or light transmission aggregometry and/or molecular analysis.


Results : We identified 60 patients (35 men and 25 women). The mean age at diagnosis was 61.7 months (1 month-70 years). Consanguinity was noted in 71.6% of cases (n=43). A family history of thrombopathy was reported in 51.6% of cases (n=31). The presenting symptoms at diagnosis were spontaneous or provoked bleeding (n=56) and easy bruising associated with thrombocytopenia within the first 48 hours of life (n=1). The etiologies of the thrombopathies were as follows : Glanzmann thrombasthenia (n=54), Bernard Soulier syndrome (n=5) and Wiskott Aldrich syndrome (n=1).


Conclusion : Glanzmann thrombasthenia was the most prevalent thrombopathy


in our cohort, likely attributed to the high rate of consanguinity in our region.

Keywords:

Thrombopathy, hemorrhage, Glanzmann thrombasthenia, Bernard Soulier syndrome, Wiskott Aldrich syndrome

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