A simple and accessible screening method for congenital thrombopathies using an impedance haematology counter

Glanzmann thrombasthenia (GT) and Bernard–Soulier syndrome (BSS) are hereditary autosomal recessive disorders of platelet functions. These two congenital thrombopathies are very rare. This rarity might be due to the misdiagnosis of the disease and the lack of reliable screening methods. Usually, the definitive diagnosis of these congenital defects relies on aggregometric, flow cytometric and molecular assays. Unfortunately, these expensive diagnostic tools are not always available in routine laboratories, especially in developing countries, leading to misdiagnosis and underestimation of the prevalence of these defects. In this paper, the authors suggest a simple and accessible screening method for detection of congenital thrombopathies using only a haematology counter and some reagents.

Graphical abstractFigure optionsDownload full-size imageDownload as PowerPoint slideHighlights▸ An automated platelet count is underestimated each time aggregates are present in the sample. ▸ Adjunction of platelet agonist to a normal sample lead to formation aggregates. ▸ A drop of platelet count is observed after formation of aggregates. ▸ In case of thrombopathy, aggregates can not be formed and then the platelet count remains the same.