Chan L C, So J C, Chui D H
Department of Pathology, Queen Mary Hospital Compound, University of Hong Kong, Hong Kong.
J Clin Pathol. 1995 Sep;48(9):861-4. doi: 10.1136/jcp.48.9.861.
To compare the haemoglobin (Hb) H inclusion test with immunocytochemical detection of embryonic zeta chains in screening for alpha thalassaemia.
Blood samples from 115 patients with relevant clinical history and hypochromic microcytic indexes were screened using the HbH inclusion test and the Variant Hemoglobin Testing System (BioRad, Hercules, CA, USA).
The HbH inclusion test was positive in 61 of 115 cases, three of whom had HbH disease confirmed by electrophoresis. The remaining 58 had alpha thalassaemia 1. All three HbH cases and 56 of 58 cases of alpha thalassaemia 1 expressed embryonic zeta chains, giving a specificity of 96.7%. Fifty four of 115 cases had a negative HbH inclusion test, of whom 50 had beta thalassaemia trait and three had iron deficiency. No diagnosis was reached for the remaining patient.
The immunocytochemical test is as sensitive as the HbH inclusion test in screening for alpha thalassaemia. The presence of zeta chains is highly specific for alpha thalassaemia 1 incorporating the (--/SEA) deletion. The specificity and simplicity of the immunocytochemical test make it the test of choice in screening for alpha thalassaemia.
比较血红蛋白（Hb）H包涵体试验与免疫细胞化学检测胚胎ζ链在α地中海贫血筛查中的效果。
采用HbH包涵体试验和变异血红蛋白检测系统（美国加利福尼亚州赫拉克勒斯市伯乐公司），对115例有相关临床病史且有低色素小细胞指标的患者血样进行筛查。
115例中61例HbH包涵体试验呈阳性，其中3例经电泳确诊为HbH病。其余58例为α地中海贫血1型。所有3例HbH病患者及58例α地中海贫血1型患者中的56例均表达胚胎ζ链，特异性为96.7%。115例中有54例HbH包涵体试验阴性，其中50例为β地中海贫血特征，3例为缺铁性贫血。其余1例未明确诊断。
免疫细胞化学检测在α地中海贫血筛查中与HbH包涵体试验一样敏感。ζ链的存在对包含（--/SEA）缺失的α地中海贫血1型具有高度特异性。免疫细胞化学检测的特异性和简便性使其成为α地中海贫血筛查的首选检测方法。
