Department of Pathology, University of Utah Health Sciences, Salt Lake City, UT, USA.
Am J Clin Pathol. 2013 Sep;140(3):301-5. doi: 10.1309/AJCPF4UIJKH3EOBY.
To investigate the utility of isoelectric focusing electrophoresis (IEF) for identifying patients with α-thalassemia, which results from the deletion of 1 or more of the α-globin genes.
Samples were selected based on their hemoglobin H (HbH) concentration observed using IEF. The samples were analyzed for the most common α-globin gene deletions using molecular analysis.
α-Globin gene deletions corresponding to α-thalassemia trait or silent carrier were observed in all samples with the HbH less than 2% phenotype. The genotypes of the specimens with HbH greater than 5% were consistent with HbH disease, while the wild-type phenotype control samples showed a wild-type genotype.
Low concentrations of HbH can be detected in a patient with 1 or 2 α-gene deletions using IEF.
探讨等电聚焦电泳（IEF）在鉴定由于缺失 1 个或多个α-珠蛋白基因而导致的α-地中海贫血中的应用。
根据IEF 观察到的血红蛋白 H（HbH）浓度选择样本。使用分子分析方法对最常见的α-珠蛋白基因缺失进行分析。
所有 HbH<2%表型的样本中均观察到与α-地中海贫血特征或静止型携带者相对应的α-珠蛋白基因缺失。HbH>5%的样本的基因型与 HbH 病一致，而野生型表型对照样本则显示野生型基因型。
IEF 可检测出 1 或 2 个α-基因缺失患者的低浓度 HbH。
