珠蛋白生成障碍性贫血患者外周血中蛋白质与非编码RNA作为潜在生物标志物的研究进展  

Research progress of protein and non-coding RNA in peripheral blood of thalassemia as potential biomarkers

作　　者：张思雯 徐两蒲(综述)[1] 黄海龙(审校)[1,2] ZHANG Siwen;XU Liangpu;HUANG Hailong(Fujian Maternity and Child Health Hospital/Medical Genetic Diagnosis and Therapy Center of Hospital Affiliated of Fujian Medical University/Key Laboratory of Prenatal Diagnosis and Birth Defects of Fujian,Fuzhou,Fujian 350001,China;School of Medical Technology and Engineering,Fuzhou,Fujian 350004,China)

机构地区：[1]福建省妇幼保健院/福建医科大学附属医院医学遗传诊疗中心/福建省产前诊断与出生缺陷重点实验室,福建福州350001 [2]福建医科大学医学技术与工程学院,福建福州350004

出　　处：《检验医学与临床》2023年第8期1130-1135,共6页Laboratory Medicine and Clinic

基　　金：国家自然科学基金资助项目(81970170);福建省自然科学基金资助项目(2019J01510)。

摘　　要：珠蛋白生成障碍性贫血又称为地中海贫血(简称地贫),是一种遗传性溶血性贫血,其中常见的一类是β-地贫,β-地贫是由β-珠蛋白基因点突变或片段缺失或插入引起的β-珠蛋白肽链的合成发生障碍,导致红细胞平均体积与红细胞平均血红蛋白浓度降低,且常伴随血红蛋白水平降低。随着对β-地贫发生机制的研究不断深入,以及更多灵敏检测技术的应用,越来越多的新型生物标志物被发现并显示出良好的临床应用前景。该文系统总结近5年来β-地贫外周血中报道的各种蛋白质(红细胞转铁蛋白受体1、α-血红蛋白稳定蛋白、热休克蛋白70、缺血修饰清蛋白、补体调节蛋白CD35和CD55、血浆蛋白C、蛋白S及抗凝血酶Ⅲ)和非编码RNA(微小RNA、长链非编码RNA及环状RNA),旨在为该病的诊断和治疗提供新思路和方向。Thalassemia is a hereditary hemolytic anemia,among which the common type isβ-thalassemia.β-thalassemia is a disorder in the synthesis ofβ-globin peptide chain caused by point mutation or fragment deletion or insertion ofβ-globin gene,resulting in decreased mean volume of red blood cells and mean hemoglobin concentration of red blood cells,often accompanied by decreased hemoglobin.With the deepening of the research on the mechanism ofβ-thalassemia and the application of more sensitive detection techniques,more and more novel biomarkers have been discovered and show a good clinical application prospect.In this paper,various proteins(transferrin receptor 1,α-hemoglobin stabilizing protein,heat shock protein 70,ischemia modified albumin,complement regulatory proteins CD35 and CD55,plasma protein C,protein S and antithrombinⅢ)and non-coding RNAs(microRNAs,long-chain non-coding RNAs and circular RNA)reported in peripheral blood ofβ-thalassemia in the past 5 years were systematically summarized,aiming to provide new ideas and directions for the diagnosis and treatment of this disease.

关 键 词：珠蛋白生成障碍性贫血 外周血 生物标志物 蛋白质 非编码RNA 

分 类 号：R556.6[医药卫生—血液循环系统疾病]