ERNAM-Nanotechnology Research and Application Center, Erciyes University Kayseri, Turkey
Department of Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Turk J Med Sci. 2021 Aug 30;51(4):2135-2141. doi: 10.3906/sag-2006-107.
BACKGROUND/AIM: Glanzmann thrombasthenia (GT) is a rare autosomal recessively inherited bleeding disorder characterized by the quantitative (type 1 and type 2) or qualitative (type 3) deficiency in platelet membrane glycoprotein (GP) IIb/IIIa (CD41a/CD61) fibrinogen receptors. In type 1, 2, and 3, CD41a/CD61 expression is 5%, 5%–20% and above 20%, respectively. In this study, diagnosis of GT was confirmed and subgroups were identified in 32 Turkish patients by flow cytometry analysis.
CD41a/CD61 expression levels in platelet-rich plasma (PRP) obtained from peripheral venous EDTA blood samples were analyzed with a BD FACSCanto II flow cytometer (Becton Dickinson, Franklin Lakes, NJ, USA). GT subgroup analysis was performed by counting 50,000 events in the BD FACSDiva Software v6.1.3 program of the instrument.
In the present study, in blood samples of 32 patients from 23 families with GT and 22 healthy controls, co-expression levels of CD41a and CD61 in PRP was analyzed. 12 out of 23 families were consistent with type 1 GT (52.2%), 4 were consistent with type 2 GT (17.4%), and 7 were consistent with type 3 GT (30.4%).
Especially due to consanguineous marriages, GT with various glycoprotein levels may be detected. As a result of the flow cytometry analysis of the present study with the highest GT patient population in Turkey, type 1 GT patients were the most common subgroup. In the determination of the GT subgroups; especially in the detection of type 3 GT, flow cytometry is the most sensitive glycoprotein analysis method. In addition to light transmission aggregometry, CD41a/CD61 study by flow cytometer confirms diagnosis when mutation analysis cannot be performed.
背景/目的：Glanzmann 血小板无力症（GT）是一种罕见的常染色体隐性遗传性出血性疾病，其特征是血小板膜糖蛋白（GP）IIb/IIIa（CD41a/CD61）纤维蛋白原受体的数量（1 型和 2 型）或质量（3 型）缺陷。在 1 型、2 型和 3 型中，CD41a/CD61 的表达分别为 5%、5%-20%和超过 20%。在这项研究中，通过流式细胞术分析在 32 名土耳其患者中确认了 GT 的诊断，并确定了亚组。
用 BD FACSCanto II 流式细胞仪（Becton Dickinson，Franklin Lakes，NJ，USA）分析从外周静脉 EDTA 血样中获得的富含血小板血浆（PRP）中的 CD41a/CD61 表达水平。通过在仪器的 BD FACSDiva Software v6.1.3 程序中计数 50,000 个事件来进行 GT 亚组分析。
在这项研究中，在 23 个 GT 家族的 32 名患者和 22 名健康对照者的血液样本中，分析了 PRP 中 CD41a 和 CD61 的共表达水平。23 个家族中有 12 个与 1 型 GT 一致（52.2%），4 个与 2 型 GT 一致（17.4%），7 个与 3 型 GT 一致（30.4%）。
特别是由于近亲结婚，可能会检测到各种糖蛋白水平的 GT。由于这是在土耳其进行的 GT 患者人群最多的流式细胞术分析研究，因此 1 型 GT 患者是最常见的亚组。在确定 GT 亚组时；特别是在检测 3 型 GT 时，流式细胞术是最敏感的糖蛋白分析方法。除了光透射聚集度测定外，当无法进行突变分析时，通过流式细胞仪进行 CD41a/CD61 研究可确认诊断。
