title: Heart failure in haemoglobinopathies: pathophysiology, clinical phenotypes, and management.
abstract: 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.
authors.affiliation: Heart Failure Unit, Department of Cardiology, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Farmakis
authors.affiliation: Department of Cardiology, Larissa University Hospital, Larissa, Greece.
authors.forename: Filippos
authors.initials: F
authors.lastname: Triposkiadis
authors.affiliation: Heart Failure Unit, Department of Cardiology, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: John
authors.initials: J
authors.lastname: Lekakis
authors.affiliation: Heart Failure Unit, Department of Cardiology, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: John
authors.initials: J
authors.lastname: Parissis
mesh_terms: D000755:Anemia, Sickle Cell / Q000150:complications / Q000503:physiopathology / Q000628:therapy; D001803:Blood Transfusion; D002302:Cardiac Output; D006333:Heart Failure / Q000209:etiology / Q000503:physiopathology*; D006349:Heart Valve Diseases / Q000209:etiology / Q000503:physiopathology; D006453:Hemoglobinopathies / Q000150:complications / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology / Q000503:physiopathology; D019190:Iron Overload / Q000209:etiology / Q000503:physiopathology*; D017202:Myocardial Ischemia / Q000209:etiology / Q000503:physiopathology*; D065227:Transfusion Reaction / Q000209:etiology / Q000503:physiopathology; D014652:Vascular Diseases / Q000209:etiology / Q000503:physiopathology; D018487:Ventricular Dysfunction, Left / Q000209:etiology / Q000503:physiopathology; D018497:Ventricular Dysfunction, Right / Q000209:etiology / Q000503:physiopathology; D017086:beta-Thalassemia / Q000150:complications / Q000503:physiopathology / Q000628:therapy
keywords: Cardiomyopathy; Heart failure; Iron overload; Pulmonary hypertension; Sickle cell disease; Thalassaemia