Division of Laboratory Hematology and Blood Banking, Department of Medical Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences.
Pediatric Department.
Blood Coagul Fibrinolysis. 2022 Apr 1;33(3):159-161. doi: 10.1097/MBC.0000000000001117. Epub 2022 Feb 14.
Diagnosis of inherited platelet glycoprotein disorders is based on specific laboratory techniques such as aggregometry and flow cytometry. Flowcytometry is a powerful method, but equivocal results are produced in some cases. New cluster of differentiation markers could resolve the diagnostic dilemmas. Abnormal expression of CD9 in Bernard-Soulier syndrome (BSS) is recently reported. We aimed to determine the diagnostic significance of CD9 expression in a cohort of Iranian patients with inherited platelet glycoprotein defects. Twelve BSS, 21 Glanzmann thrombasthenia and 16 healthy controls were included in the present study. Flowcytometric diagnosis of BSS and Glanzmann thrombasthenia was made by analysis of CD41/61 and CD42a/42b CD markers. Moreover, phycoerythrin-labelled anti CD9 was examined in patients and healthy controls. The mean fluorescence intensity (MFI) of CD9 among the three groups was compared using suitable statistical methods and a P value of less than 0.05 considered statistically significant. Mean MFI of CD9 was 990.0 in BSS patients versus 421.2 and 317.3 in individuals with Glanzmann thrombasthenia and healthy controls, respectively (P < 0.05). Between the two-group comparison of means by the Mann-Whitney test revealed a P value of less than 0.001 for BSS group versus GT (2.4-fold) and BSS versus healthy controls (2.9-fold). CD9 molecule also expressed differently in patients with Glanzmann thrombasthenia in comparison with healthy controls (P < 0.001), although with a less magnitude (1.3-fold). According to our findings, CD9 is a potential biomarker for laboratory diagnosis of inherited glycoprotein defects, especially to elucidate the ambiguous results in BSS cases.
遗传性血小板糖蛋白疾病的诊断基于特定的实验室技术，如聚集测定法和流式细胞术。流式细胞术是一种强大的方法，但在某些情况下会产生模棱两可的结果。新的分化群标志物可能会解决诊断难题。最近报道了伯纳德-苏利耶综合征（BSS）中 CD9 的异常表达。我们旨在确定 CD9 表达在伊朗遗传性血小板糖蛋白缺陷患者队列中的诊断意义。本研究纳入了 12 例 BSS、21 例 Glanzmann 血小板无力症和 16 名健康对照者。通过分析 CD41/61 和 CD42a/42b CD 标志物，对 BSS 和 Glanzmann 血小板无力症进行流式细胞术诊断。此外，在患者和健康对照者中检查藻红蛋白标记的抗 CD9。使用合适的统计方法比较三组之间 CD9 的平均荧光强度（MFI），P 值小于 0.05 认为具有统计学意义。BSS 患者的 CD9 平均 MFI 为 990.0，而 Glanzmann 血小板无力症患者和健康对照者分别为 421.2 和 317.3（P<0.05）。Mann-Whitney 检验的两组间均值比较显示，BSS 组与 GT（2.4 倍）和 BSS 与健康对照组（2.9 倍）的 P 值均小于 0.001。与健康对照组相比，Glanzmann 血小板无力症患者的 CD9 分子表达也不同（P<0.001），尽管程度较小（1.3 倍）。根据我们的发现，CD9 是遗传性糖蛋白缺陷实验室诊断的潜在生物标志物，尤其是可以阐明 BSS 病例中的模棱两可结果。
