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Heart failure in haemoglobinopathies: pathophysiology, clinical phenotypes, and management
Author(s) -
Farmakis Dimitrios,
Triposkiadis Filippos,
Lekakis John,
Parissis John
Publication year - 2017
Publication title -
european journal of heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.149
H-Index - 133
eISSN - 1879-0844
pISSN - 1388-9842
DOI - 10.1002/ejhf.708
Subject(s) - medicine , heart failure , multidisciplinary approach , intensive care medicine , disease , clinical phenotype , pathophysiology , disease management , phenotype , bioinformatics , pathology , genetics , biology , social science , sociology , parkinson's disease , gene
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.