Division of Pediatric Pulmonology, Allergy and Sleep Medicine, Department of Pediatrics and.
Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Department of Medicine, Indiana University, Indianapolis, IN.
Blood. 2018 Oct 25;132(17):1770-1780. doi: 10.1182/blood-2018-03-818195. Epub 2018 Sep 11.
Hemoglobinopathies are caused by genetic mutations that result in abnormal hemoglobin molecules, resulting in hemolytic anemia. Chronic complications involving the lung parenchyma, vasculature, and cardiac function in hemoglobinopathies result in impaired gas exchange, resulting in tissue hypoxia. Hypoxia is defined as the deficiency in the amount of oxygen reaching the tissues of the body and is prevalent in patients with hemoglobinopathies, and its cause is often multifactorial. Chronic hypoxia in hemoglobinopathies is often a sign of disease severity and is associated with increased morbidity and mortality. Therefore, a thorough understanding of the pathophysiology of hypoxia in these disease processes is important in order to appropriately treat the underlying cause and prevent complications. In this article, we discuss management of hypoxia based on three different cases: sickle cell disease, β-thalassemia, and hereditary spherocytosis. These cases are used to review the current understanding of the disease pathophysiology, demonstrate the importance of a thorough clinical history and physical examination, explore diagnostic pathways, and review the current management.
血红蛋白病是由导致异常血红蛋白分子的基因突变引起的，导致溶血性贫血。血红蛋白病涉及肺实质、血管和心脏功能的慢性并发症导致气体交换受损，导致组织缺氧。缺氧是指到达身体组织的氧气量不足，在血红蛋白病患者中很常见，其原因通常是多因素的。血红蛋白病中的慢性缺氧通常是疾病严重程度的标志，与发病率和死亡率的增加有关。因此，为了适当治疗根本原因并预防并发症，深入了解这些疾病过程中缺氧的病理生理学非常重要。在本文中，我们根据三个不同的病例讨论缺氧的管理：镰状细胞病、β-地中海贫血和遗传性球形红细胞增多症。这些病例用于回顾疾病病理生理学的现有认识，展示彻底的临床病史和体格检查的重要性，探讨诊断途径，并回顾当前的管理。
