TPMG, Northern California Kaiser Permanente Regional Laboratories, Berkeley, CA, United States.
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, United States.
Clin Chim Acta. 2015 Jan 15;439:50-7. doi: 10.1016/j.cca.2014.10.006. Epub 2014 Oct 12.
Hemoglobin disorders are recognized as one of the most common inherited diseases worldwide. Detecting and characterizing variant hemoglobins and thalassemias depends primarily on clinical laboratory methods. Multiple biophysical, biochemical, and genetic assays are available to provide phenotypic or genotypic evidence of pathology. For many years conventional slab-gel electrophoresis and HPLC were the most commonly utilized laboratory methods. However, the field has rapidly expanded to regularly include capillary zone electrophoresis, molecular assays, and, more recently, mass spectrometric assays. Interpretation of these techniques is, in general, complicated because of the involvement of multiple polymorphic genes. Proper characterization of hemoglobin variants is necessary for diagnosis, primary prevention and genetic counseling for underlying disorders. This review provides an overview of the current hemoglobin analysis techniques, and also discusses technologies that have potential to translate into widespread clinical settings.
血红蛋白病被认为是全球最常见的遗传性疾病之一。检测和鉴定变异血红蛋白和地中海贫血症主要依赖于临床实验室方法。多种生物物理、生化和遗传检测可提供病理表型或基因型证据。多年来，常规的板凝胶电泳和 HPLC 是最常用的实验室方法。然而，该领域迅速扩展，经常包括毛细管区带电泳、分子检测，以及最近的质谱检测。由于涉及多个多态性基因，这些技术的解释通常很复杂。对血红蛋白变异体的正确描述对于诊断、潜在疾病的一级预防和遗传咨询是必要的。本文综述了目前的血红蛋白分析技术，并讨论了有可能转化为广泛临床应用的技术。
