Lin C K, Gau J P, Hsu H C, Jiang M L
Department of Medicine, Veterans' General Hospital, Taipei, Taiwan, ROC.
Clin Lab Haematol. 1990;12(4):409-15. doi: 10.1111/j.1365-2257.1990.tb00353.x.
Alpha-thalassaemia is a common disease in Taiwan. A feature useful in diagnosis is the excess of of beta-chains that result from impaired alpha-chain production. These excess chains assemble into beta 4 tetramers (i.e. Hb H) which can be detected by its rapid anodal migration on alkaline electrophoretic media as seen in Hb H disease. However, this technique cannot, and conventional Hb H inclusion staining rarely can visualize alpha-thalassaemic traits due to small quantities of Hb H formed in these patients. The staining for Hb H inclusion bodies uses brilliant cresyl blue (BCB) or methylene blue (MB) as an oxidant to denature Hb H as intracellular inclusions. We have improved the technique of Jones (who modified the original method in order to obtain enriched young red cells) by prolonging the incubation time from 30 min to 3 h. The sensitivity of this modified improved method was 91% for detecting obligatory alpha-thalassaemic traits as shown in table. No false positive results were seen in beta-thalassaemia or in others. We believe this can be used as a confirmatory test in heterozygous alpha 1-thalassaemia and homozygous alpha 2-thalassaemia.
α地中海贫血在台湾是一种常见疾病。有助于诊断的一个特征是由于α链生成受损导致的β链过量。这些过量的链组装成β4四聚体(即Hb H),在碱性电泳介质上其快速向阳极迁移,这在Hb H病中可见,因而可以检测到。然而,这项技术无法做到(检测α地中海贫血特征),而且传统的Hb H包涵体染色也很少能使α地中海贫血特征可视化,因为这些患者体内形成的Hb H量很少。Hb H包涵体染色使用灿烂甲酚蓝(BCB)或亚甲蓝(MB)作为氧化剂,使Hb H变性成为细胞内包涵体。我们改进了琼斯的技术(他修改了原始方法以获得富集的幼红细胞),将孵育时间从30分钟延长至3小时。如表所示,这种改进后的方法检测必然存在的α地中海贫血特征的灵敏度为91%。在β地中海贫血或其他疾病中未观察到假阳性结果。我们认为这可作为杂合子α1地中海贫血和纯合子α2地中海贫血的确诊试验。