地中海贫血诊断方法研究进展

目的:地中海贫血实验室诊断技术主要包括血液学筛查及基因检测两大类。前者主要以红细胞形态及其理化特性为诊断依据,包括红细胞形态分析、血常规分析、红细胞渗透脆性试验、血红蛋白组分分析等;后者主要是以PCR为基础的各种基因检测技术来进行诊断,包括Southern印迹杂交、PCR反向点杂交法、实时荧光PCR的探针溶解曲线分析、基因芯片、DNA测序等。本文就近年来地中海贫血的部分诊断方法及其研究进展作一综述。

Advances in diagnostic methods thalassemia

Objective:Mediterranean Laboratory Diagnostic Techniques include screening test and genetic testing;the former di-agnosis method is mainly based on the morphology of red blood cells and the physical and chemical properties,including forms of red blood cells,red blood cell permeability test,erythrocyte osmotic test,hemoglobin component analysis,high performance liquid chroma-tography (HPLC),etc.The latter is mainly based on various of molecular biology experiments developed on the basis of PCR,including Southern blot hybridization (Southern blot),PCR reverse dot blot hybridization (PCR-RDB),analysis of real-time fluorescent PCR probe dissolution curve (PMCA),gene chip and DNA sequencing,etc.In this paper some methods of diagnosis of the Mediterranean a-nemia are to be reviewed.