Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
Int J Lab Hematol. 2023 Jun;45 Suppl 2:71-78. doi: 10.1111/ijlh.14089. Epub 2023 May 21.
Hemoglobin disorders are among the most common genetic diseases worldwide. Molecular diagnosis is helpful in cases where the diagnosis is uncertain and for genetic counseling. Protein-based diagnostic techniques are frequently adequate for initial diagnosis. Molecular genetic testing is pursued in some cases, particularly when a definitive diagnosis is not possible and especially for the purpose of assessing genetic risk for couples wanting to have children. The expertise available in the clinical hematology laboratory is essential for the diagnosis of patients with hemoglobin abnormalities. Initial diagnoses are made using protein-based techniques such as electrophoresis and chromatography. Based on these findings, genetic risk to an individual's offspring can be assessed. In the setting of β-thalassemia and other β-globin disorders, coincident α-thalassemia may be difficult to diagnose, which can have potentially serious consequences. In addition, unusual forms of β-thalassemia caused by deletions in the β-globin locus cannot be definitively characterized using standard techniques. Molecular diagnostic testing has an important role in the diagnosis of hemoglobin disorders and is important in the setting of genetic counseling. Molecular testing also has a role in prenatal diagnosis to identify fetuses affected by severe hemoglobinopathies and thalassemias.
血红蛋白疾病是全球最常见的遗传疾病之一。在诊断不确定和遗传咨询时，分子诊断很有帮助。基于蛋白质的诊断技术通常足以进行初步诊断。在某些情况下会进行分子遗传学检测，特别是在无法明确诊断的情况下，特别是为了评估有生育需求的夫妇的遗传风险。临床血液学实验室的专业知识对于诊断血红蛋白异常的患者至关重要。最初的诊断是使用基于蛋白质的技术，如电泳和色谱法进行的。根据这些发现，可以评估个体后代的遗传风险。在β-地中海贫血和其他β-珠蛋白疾病的情况下，同时存在的α-地中海贫血可能难以诊断，这可能会产生严重的后果。此外，由于β-珠蛋白基因座缺失引起的异常β-地中海贫血形式不能使用标准技术进行明确表征。分子诊断测试在血红蛋白疾病的诊断中具有重要作用，在遗传咨询中也很重要。分子检测还可用于产前诊断，以识别受严重血红蛋白病和地中海贫血影响的胎儿。
