Abstract Number: PB0873
Meeting: ISTH 2021 Congress
Background: Knowledge about inherited thrombocytopenia has been expanded in recent years due to the introduction of new sequencing genetic analysis. There are patients with misdiagnosed thrombocytopenia that could benefit of these new techniques.
Aims: To evaluate the applicability of a next generation sequencing (NGS) based gene panel in the diagnosis of suspected inherited thrombocytopenia in clinical practice.
Methods: A prospective descriptive study was designed and 30 participants were included. Patients were previously diagnosed with not specified thrombocytopenia who fulfilled next inclusion criteria: not acquired thrombocytopenia with no previous normal range platelet count and without secondary causes of thrombocytopenia. Medical and family history, physical examination and blood test analysis including peripheral blood smear were recorded. Two hundred platelets were evaluated in every blood smear and platelet size, granulation and vacuolization were described The NGS gene panel was performed to all patients in peripheral blood. Tested genes are shown in Figure 1. Results are presented as medians, maximum, minimum and percentages. Informed consents were required for all patients.
Results: Main characteristics of selected patients are registered in Table 1. Fourteen subjects (47%) had family history of thrombocytopenia and only 1 patient (3%) had family history of hematologic malignancy. None of the patients presented syndromic symptoms. Former haemorrhagic complications were reported in 9 patients (30%) and 10 (33%) participants received previous treatment for immune thrombocytopenia without adequate response. Six (20%) subjects presented large platelets in blood smear.
The NGS panel proved that 12 out of the 30 patients (40%) had some genetic mutation related to inherited thrombocytopenia with a total of 15 gene alterations identified.
|Age, years||51 (22-86)|
|Sex (number, %)
|Family background (number, %)
|Haemorrhagic symptoms (number, %)||9 (30%)|
|Platelet count (platelet/µL)||76000 (10000-126000)|
|Platelet volume (fl)||11,7 (8,3-13,9)|
|Previously treated patients (number, %)||10 (33%)|
|Type of treatment (number, %)
|Peripheral blood smear (number, %)
|NGS gene mutation positive patients (number, %)
Gene alterations (number, %)
Conclusions: In our one-center experience, an adequate selection of patients allowed to diagnose an important group of subjects with inherited thrombocytopenia using a NGS based gene panel. In clinical practice, identifying these patients could avoid unnecessary immunosuppressive treatments and improve follow-up strategies.
To cite this abstract in AMA style:Silva de Tena P, Argüello-Tomás M, Pascual Izquierdo C, Díez-Martín JL, Martinez Laperche C, Perez Rus G. Clinical Application of Genetic Testing in Patients with Not Acquired Thrombocytopenia: One Center Experience [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/clinical-application-of-genetic-testing-in-patients-with-not-acquired-thrombocytopenia-one-center-experience/. Accessed November 29, 2021.
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