遗传性球形红细胞增多症实验室诊断进展

近年来,遗传性球形红细胞增多症(hereditary spherocytosis,HS)的诊断方法得到了快速发展,主要包括EMA结合试验、流式细胞渗透脆性试验、激光衍射法及二代测序技术。EMA结合试验、流式细胞渗透脆性试验由于其敏感性较高且容易操作,被推荐为HS的筛查试验。激光衍射法由于敏感性及特异性均高,可以区分HS和其他遗传性红细胞膜疾病,但不能区分HS和自身免疫性溶血性贫血(auto-immune hemolytic anemia,AIHA),且操作较复杂,被认为是筛查试验和诊断试验的中间步骤。二代测序可以检出患者的分子缺陷,明确编码缺陷蛋白的基因,实现精准诊断,被认为是HS的诊断试验,其快速发展已成为诊断HS的重要工具。实验室诊断技术的发展使得HS患者误诊和漏诊数量减少,显著提高了HS的诊断水平。

Progress on Laboratory Diagnosis of Hereditary Spherocytosis--Review

In recent years,the diagnostic methods of hereditary spherocytosis(HS)have been developed rapidly,including eosin-5’-maleimide(EMA)binding test,flow cytometric osmotic fragility test,osmotic gradient ektacytometry and next-generation sequencing.EMA binding test and flow cytometric osmotic fragility test are recommended as HS screening tests due to their high sensitivity and easy operation.Osmotic gradient ektacytometry has high sensitivity and specificity,thus which can be used to distinguish HS from other hereditary membrane disease,but can not differentiate between HS and auto-immune hemolytic anemia(AIHA)and it is difficult operation,which is used as an intermediate step between screening and diagnostic tests.Next-generation sequencing can detect the molecular defects,identifying the gene encoding defective protein,thus achieving accurate diagnosis.This diagnostic test of HS has become an important diagnostic tool.The development of laboratory diagnosis has reduced misdiagnosis,and significantly improved the level of HS diagnosis.