Abstract：
Primary mitochondrial disorders (PMDs) are known for their pleiotropic manifestations in humans, affecting almost any organ or system at any time. Hematologic manifestations, such as cytopenias and sideroblastic anemia, occur in 10% to 30% of patients with confirmed PMDs. These can be the initial presenting features or complications that develop over time. Surveillance for these manifestations allows for prompt identification and treatment. This article provides an overview of the pathophysiology underpinning the hematologic effects of mitochondrial dysfunction, discussing the 3 key roles of the mitochondria in hematopoiesis: providing energy for cell differentiation and function, synthesizing heme, and generating iron-sulfur clusters. Subsequently, the diagnosis and management of mitochondrial disorders are discussed, focusing on hematologic manifestations and the specific conditions commonly associated with them. Through this, we aimed to provide a concise point of reference for those considering a mitochondrial cause for a patient\'s hematologic abnormality, or for those considering a hematologic manifestation in a patient with known or suspected mitochondrial disease.
摘要：
原发性线粒体疾病（PMD）以其在人类中的多效性表现而闻名，在任何时候影响几乎任何器官或系统。血液学表现,如血细胞减少症和铁粒幼细胞性贫血，发生在10%至30%的确诊PMD患者中。这些可以是随着时间发展的初始呈现特征或并发症。对这些表现进行监测可以迅速识别和治疗。本文概述了线粒体功能障碍的血液学影响的病理生理学。讨论线粒体在造血中的3个关键作用：为细胞分化和功能提供能量，合成血红素，并产生铁硫簇。随后，讨论了线粒体疾病的诊断和管理，重点关注血液学表现和通常与之相关的特定条件。通过这个,我们的目的是为那些考虑患者血液学异常的线粒体原因的人提供一个简明的参考点，或考虑在已知或怀疑线粒体疾病的患者中有血液学表现的患者。
