Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Clinical Center, Building 10, 3-E, room 3-5240, 10 Center Drive, Bethesda, MD, 20892, United States.
Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Clinical Center, Building 10, Department of Laboratory Medicine, 10 Center Drive, Bethesda, MD, 20892, United States.
Best Pract Res Clin Haematol. 2021 Jun;34(2):101275. doi: 10.1016/j.beha.2021.101275. Epub 2021 Jun 2.
Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune aplastic anemia, the commonest BMF, is a diagnosis of exclusion. In this review, we discuss a general approach to the evaluation of BMF, focusing on clinical presentations particular to immune and various constitutional disorders as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Additionally, we examine the role of specialized testing in both immune and inherited BMF, and discuss genetic testing, both its role in patient evaluation and interpretation of results.
区分原发性和免疫性骨髓衰竭（BMF）具有重要的临床意义。然而，诊断并不总是那么直接，最常见的 BMF——免疫性再生障碍性贫血，就是一种排他性诊断。在这篇综述中，我们讨论了评估 BMF 的一般方法，重点关注免疫和各种原发性疾病的特殊临床表现，以及骨髓组织学、流式细胞术和核型分析的解读。此外，我们还研究了在免疫性和遗传性 BMF 中特殊检测的作用，并讨论了基因检测，包括其在患者评估中的作用和结果解读。
