UOC Laboratory of Clinical Medicine with Specialized Areas, IRCCS MultiMedica, Via Fantoli 16/15, 20138 Milan, Italy.
Bianalisi, Clinical Laboratory, Via Mattavelli 3, 20841 Carate Brianza, Italy.
Int J Mol Sci. 2024 Jun 20;25(12):6781. doi: 10.3390/ijms25126781.
Haemoglobin disorders represent a heterogeneous group of inherited conditions that involve at least one genetic abnormality in one or more of the globin chains, resulting in changes in the structure, function, and/or amount of haemoglobin molecules, which are very important for their related clinical aspects. Detecting and characterizing these disorders depends primarily on laboratory methods that employ traditional approaches and, when necessary, newer methodologies essential for solving a number of diagnostic challenges. This review provides an overview of key laboratory techniques in the diagnosis of haemoglobinopathies, focusing on the challenges, advancements, and future directions in this field. Moreover, many haemoglobinopathies are benign and clinically silent, but it is not uncommon to find unexpected variants during routine laboratory tests. The present work reported a rare and clinically interesting case of identification of haemoglobin fractions in an adult man by the determination of glycated haemoglobin (HbA) during a routine laboratory assessment, highlighting how the correct use of laboratory data can modify and improve the patient's clinical management.
血红蛋白病是一组遗传性疾病，至少涉及一个或多个珠蛋白链的遗传异常，导致血红蛋白分子的结构、功能和/或数量发生变化，这对其相关的临床方面非常重要。这些疾病的检测和特征主要依赖于实验室方法，这些方法采用传统方法，必要时还采用解决许多诊断挑战所必需的新方法。这篇综述提供了血红蛋白病诊断中关键实验室技术的概述，重点介绍了该领域的挑战、进展和未来方向。此外，许多血红蛋白病是良性的，临床无症状，但在常规实验室检查中发现意外变异并不罕见。本工作报道了一例罕见且具有临床意义的成年男性血红蛋白成分鉴定的案例，该案例是通过常规实验室评估测定糖化血红蛋白（HbA）发现的，强调了正确使用实验室数据可以改变和改善患者的临床管理。
