遗传性球形红细胞增多症诊断的研究进展

Research Progress of Diagnosis of Hereditary Spherocytosis

遗传性球形红细胞增多症（HS）是最常见的遗传性红细胞膜缺陷疾病.HS在临床特征、膜蛋白缺陷及遗传方式上异质性明显,易造成漏诊和误诊.目前,该病的诊断进展主要集中在提高球形红细胞和膜缺陷细胞检出的灵敏度和特异度上,但尚无单一指标可以确诊所有HS.伊红-马来酰亚胺结合试验联合酸化甘油溶解试验是灵敏度最高的组合试验,可以检出轻型和代偿良好的HS.血象参数分析、血涂片等检查有利于早期筛查HS.现就HS的历史起源,发病率,膜蛋白缺陷与临床的关系,实验室检查的最新进展,综述如下.

Hereditary spherocytosis （HS） is the most common inherited disease of red cell membrane defects.Because of clinical characteristics,membrane protein defects and heterogeneity of genetic in HS,HS could be easily misdiagnosis.Currently,the progress of HS diagnosis is mainly focused on improving the sensitivity and specificity in detected of spherical red blood cells and cell membrane defects,but there is no single indicator can diagnose all HS.Eosin-5-maleimide binding test joint acidification glycerol dissolution test is the highest sensitivity combination test,and this method can be detected light and well compensated HS.Blood parameter analysis,blood smears and other tests are good for HS early screening.In this article,we review the historical origins,incidence,relationship between membrane protein defects and clinical manifestations,and the latest developments of laboratory tests in HS as follows.