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

机译:一种使用阻抗血液学计数器的先天性血栓病的简单易用筛查方法

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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.
机译:格兰兹曼血栓症(GT)和伯纳德·苏里耶综合症(BSS)是血小板功能的遗传性常染色体隐性遗传疾病。这两种先天性血栓形成非常罕见。这种稀有性可能是由于该疾病的误诊和缺乏可靠的筛查方法所致。通常,对这些先天性缺陷的明确诊断依赖于凝集测定,流式细胞术和分子测定。不幸的是,这些昂贵的诊断工具并非总是可以在常规实验室中获得,尤其是在发展中国家,这会导致误诊和低估这些缺陷的患病率。在本文中,作者提出了一种仅使用血液学计数器和某些试剂即可检测先天性血栓病的简便易行的筛选方法。

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