Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sickle cell disease and thalassemia are common hereditary blood disorders associated with increased systemic inflammation, tissue hypoxia, endothelial dysfunction and end-organ damage, the latter accounting for the substantial morbidity and abbreviated lifespan associated with these conditions. Sleep perturbations in general, and sleep-disordered breathing in particular are also highly prevalent conditions and the mechanisms underlying their widespread end-organ morbidities markedly and intriguingly overlap with the very same pathways implicated in the hemoglobinopathies. However, little attention has been given to date to the potential contributing role of sleep disorders to sickle cell disease manifestations. Here, we comprehensively review the pathophysiological mechanisms and clinical manifestations linking disturbed sleep and hemoglobinopathies, with special emphasis on sickle cell disease. In addition to a broad summary of the available evidence, we identify many of the research gaps that require attention and future investigation, and provide the scientific contextual setting that should enable opportunities to investigate the intertwined pathophysiological mechanisms and clinical outcomes of sleep disorders and hemoglobinopathies.
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PMID:Hemoglobinopathies and sleep--The road less traveled. 2574 18