HB CC-α地中海贫血的实验室诊断
Laboratory diagnosis of HB CC-alpha-thalassemia.
作者信息
Wong S C, Ali M A
出版信息
Clin Biochem. 1979 Oct;12(5):157-8. doi: 10.1016/s0009-9120(79)80080-6.
Routine laboratory investigations of hemoglobinopathies include Hb electrophoresis for abnormal hemoglobins, determination of Hb A2 (alpha 2 delta 2) for beta-thalassemia traits, staining for Hb H (beta 4) inclusions for alpha-thalassemia traits and estimation of Hb F (alpha 2 lambda 2) for the presence of hereditary persistence of fetal hemoglobin genes (HPFH). Frequently, analytical column chromatography and alpha/beta hemoglobin chain synthesis are used in the studies of more complicated hemoglobinopathies. This communication outlines the procedures used in this laboratory for the diagnosis of a case of Hb CC-alpha-thalassemia.
血红蛋白病的常规实验室检查包括检测异常血红蛋白的血红蛋白电泳、检测β地中海贫血特征的Hb A2（α2δ2）、检测α地中海贫血特征的Hb H（β4）包涵体染色以及检测胎儿血红蛋白基因遗传性持续存在（HPFH）的Hb F（α2γ2）。在研究更复杂的血红蛋白病时，经常使用分析柱色谱法和α/β血红蛋白链合成。本交流概述了本实验室用于诊断一例Hb CC-α地中海贫血病例的程序。
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