Abstract Number: PB1509
Meeting: ISTH 2020 Congress
Background: Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disease characterized by normal platelet count and defect in platelet aggregation. GT is due to quantitative or qualitative deficiencies of the fibrinogen receptor, αIIbβ3, an integrin coded by the ITGA2B and ITGB3 genes. Rare cases mutations in ITGA2B and ITGB3 cause GT with macro-thrombopenia named Glanzmann thrombasthenia-like syndrome.
Aims: We report 2 cases of GT with macro-thrombopenia in the same family.
Methods: Our study was done in patients with GT and their family members. We carried out the platelet count, the primary hemostasis balance with platelet functions studies by aggregometry, flow cytometry, MAIPA and gene sequencing.
Results: The two propositus have mucocutaneous haemorrhages and moderate macro-thrombocytopenia. The platelet functions studies showed normal platelet aggregation with ristocetin and very reduced platelet aggregation with multiple agonists. The GPIIb-IIIa expression rate’s by flow cytometry is 12,7% and 26,3%. These two patients did not develop any post-transfusion anti-αIIbβ3 antibodies. No mutation was found.
Parents are heterozygous while the third child is healthy
Conclusions: Two members of this family have a Glanzmann thrombasthenia-like syndrome.
To cite this abstract in AMA style:Mendi K, Dahmane M, Jallu V, Petermann R. Glanzmann Thrombasthenia-like Syndrome: Report of 2 Cases [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/glanzmann-thrombasthenia-like-syndrome-report-of-2-cases/. Accessed December 3, 2021.
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