Heart Failure Unit, Department of Cardiology, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Department of Cardiology, Larissa University Hospital, Larissa, Greece.
Eur J Heart Fail. 2017 Apr;19(4):479-489. doi: 10.1002/ejhf.708. Epub 2016 Dec 20.
Hereditary haemoglobinopathies, mainly beta-thalassemia and sickle cell disease, constitute the most common monogenic disorders in humans, and although once geographically confined, they are currently globally distributed. They are demanding clinical entities that require multidisciplinary medical management. Despite their genotypic and phenotypic heterogeneity, the haemoglobinopathies share several similarities in pathophysiology, clinical manifestations, therapeutic requirements, and complications, among which heart failure (HF) represents a leading cause of mortality and morbidity. However, haemoglobinopathies have generally been addressed in a rather fragmentary manner. A unifying approach focusing on the underlying similarities of HF attributes in the two main entities might contribute to their better understanding, characterization, and management. In the present review, we attempt such an approach to the pathophysiology, clinical phenotypes, and management of HF in haemoglobinopathies.
遗传性血红蛋白病，主要是β-地中海贫血和镰状细胞病，是人类最常见的单基因疾病，虽然曾经局限于特定地理区域，但现在已经在全球范围内分布。这些疾病是具有挑战性的临床实体，需要多学科的医疗管理。尽管它们在基因型和表型上存在异质性，但血红蛋白病在病理生理学、临床表现、治疗需求和并发症等方面有一些共同之处，其中心力衰竭（HF）是导致死亡率和发病率的主要原因。然而，血红蛋白病通常是以较为零碎的方式来处理的。采用一种关注两种主要疾病心力衰竭属性的潜在相似性的统一方法，可能有助于更好地理解、描述和管理这些疾病。在本综述中，我们尝试采用这种方法来探讨血红蛋白病的病理生理学、临床表型和心力衰竭的管理。
