Naumova E V, Plekhanova O S, Lugovskaia S A, Pochtar' M E, Bugrov I Iu
Klin Lab Diagn. 2014 Jul;59(7):25-8, 40.
The paroxysmal nocturnal hemoglobinuria is a rare clonal disease characterized by somatic mutation of gene PIG-A at the level of stem hematopoietic cell. This process results in disorder of synthesis of glycosil phosphatidyl innozitol (GPI) anchor fixing numerous molecules on membrane of blood cells which protect blood cells from impact of complement. The international society of clinical cytometry (2010) proposed the guidelines of detection of clone of paroxysmal nocturnal hemoglobinuria among erythrocytes, granulocytes and monocytes. The original technique is proposed to evaluate the clone of paroxysmal nocturnal hemoglobinuria in reticulocyte population of blood using method of flow cytofluorometry. The sampling of 160 samples of blood of patients with clinical symptoms of paroxysmal nocturnal hemoglobinuria and anemia was analyzed. Two modes of gatedrawing were applied--using monoclonal antibodies to CD71 (receptor to transferrin) and reagent BD ReticCount. The high correlation was established between size of reticulocytic clone of paroxysmal nocturnal hemoglobinuria evaluated by CD71 and size of granulocytic and monocytic clone of paroxysmal nocturnal hemoglobinuria. The developed panel (CD71/CD235a/CD59) can be applied for screening and monitoring of paroxysmal nocturnal hemoglobinuria.
阵发性睡眠性血红蛋白尿是一种罕见的克隆性疾病，其特征是造血干细胞水平上的PIG-A基因突变。这一过程导致糖基磷脂酰肌醇（GPI）锚合成紊乱，而GPI锚可将众多分子固定在血细胞表面，保护血细胞免受补体的影响。国际临床细胞计量学会（2010年）提出了在红细胞、粒细胞和单核细胞中检测阵发性睡眠性血红蛋白尿克隆的指南。最初的技术是使用流式细胞荧光测定法来评估血液中网织红细胞群体中的阵发性睡眠性血红蛋白尿克隆。对160例有阵发性睡眠性血红蛋白尿临床症状和贫血的患者的血样进行了分析。应用了两种设门模式——使用针对CD71（转铁蛋白受体）的单克隆抗体和BD ReticCount试剂。通过CD71评估的阵发性睡眠性血红蛋白尿网织红细胞克隆大小与阵发性睡眠性血红蛋白尿粒细胞和单核细胞克隆大小之间建立了高度相关性。所开发的检测组合（CD71/CD235a/CD59）可用于阵发性睡眠性血红蛋白尿的筛查和监测。
