Hemoglobinopathies and sleep – The road less traveled

Gileles‐Hillel, Alex; Kheirandish‐Gozal, Leila; Gozal, David

doi:10.1016/j.smrv.2015.01.002

Cited by 36 publications

(45 citation statements)

References 195 publications

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“…Sleep disordered breathing (SDB), which is associated with transient hypoxemia and hypercapnea, has been reported in 41% of unselected children and adolescents with sickle cell disease and up to 69% of those with clinical features suggestive of SDB [1,2]. The pathophysiologic consequences of SDB, may include endothelial dysfunction with altered nitric oxide bioactivity, altered redox biology, chronic systemic inflammation, and increased expression of cell adhesion molecules [3, 4]. Each of these processes could contribute to hemolysis and vaso-occlusion.…”

Section: Introductionmentioning

confidence: 99%

“…Each of these processes could contribute to hemolysis and vaso-occlusion. Studies in children and adolescents with SCD have demonstrated associations between nocturnal desaturations and severity of anemia [5], frequency of vaso-occlusive crises and acute chest syndrome [6] cardiac abnormalities including left ventricular hypertrophy and diastolic dysfunction [7], CNS events, impaired cognition and executive function [8, 9], priapism [3], and nocturnal enuresis [3]. …”

Section: Introductionmentioning

confidence: 99%

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Sleep-disordered breathing and nocturnal hypoxemia in young adults with sickle cell disease

et al. 2016

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Sleep disordered breathing (SDB) is reported in up to 69% of adolescents and children with sickle cell disease (SCD) [1], but data regarding the prevalence of SDB in adults with SCD are limited. To obtain a preliminary assessment of the frequency and degree of sleep-related hypoxemia and potential associations with cardiovascular function in adults with SCD, we performed overnight sleep studies, 6-minute walk tests, echocardiograms, hematologic and chemistry panels, and administered the Pittsburgh Sleep Quality Index (PSQI), fatigue and health related quality of life measurement in 20 young adults with SCD attending a sickle cell clinic for routine care. Sleep apnea, defined as an apnea-hypopnea index (AHI) >5 events/hour, was found in 50% of subjects. Traditional clinical indicators such as obesity, the presence of snoring, and reported sleep complaints did not reliably differentiate these subjects. Subjects with an AHI>5 had higher mean systolic blood pressure (p =.03), evidence of impaired left ventricular diastolic function (i.e. increased mitral valve E/A ratio, p =.05), a trend toward greater reduction in 6 minute walk distances (p =.06), and lower Health-related Quality of Life scores (p <=.01). Three of nine subjects with more severe anemia (total Hb < 9.0) demonstrated nocturnal hypoxemia in the absence of sleep apnea. As prolonged and frequent hypoxemic episodes likely increase risks for vaso-occlusive, cardiovascular, and neurologic complications of SCD, these results suggest that the prevalence and severity of SDB should be investigated further in studies of larger patient populations. If confirmed, these findings could identify opportunities to prevent or reduce nocturnal hypoxia and improve outcomes.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Sleep-disordered breathing and nocturnal hypoxemia in young adults with sickle cell disease

et al. 2016

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“…For example, the receptor EGFR (epidermal growth factor receptor) is 35-fold upregulated in D and is involved in fibroblast to myofibroblast differentiation, mediated by HA and in response to TGF-β1 signaling (Lee et al, 2009). The extracellular matrix proteoglycans BCAN (brevican, 66fold upregulated in D) and NCAN (neurocan core protein, 47-fold upregulated in D) have roles in fibrosis, inflammation, and wound recovery, and bind to HA (Gileles-Hillel, Kheirandish-Gozal, & Gozal, 2015). The upregulation of RAP1GAP (Rap1 GTPase-activating protein) by 140-fold in D may help reduce inflammation mediated by Rap1 and NFκB (Xi, He, Zhang, Xue, & Zhou, 2014), by returning Rap1 to an inactive (GDP bound) state.…”

Section: Involvement Of Many Degs In Pathways Relevant To the Clinimentioning

confidence: 99%

Gene expression in blood from an individual with β‐thalassemia: An RNA sequence analysis

Taghavifar

Hamid

Shariati

2019

Molec Gen & Gen Med

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Background Transcriptome profiling in individuals affected with β‐thalassemia, especially in individuals who carry novel mutations in the HBB, may improve our understanding of the heterogeneity and molecular mechanisms of the disease. Methods Members of a family with a daughter affected with thalassemia intermedia, although her mother was not clinically affected, were examined. We also characterized genome‐wide gene expression in the family using real‐time quantitative polymerase chain reaction and high‐throughput RNA‐sequencing mRNA expression profiling of blood. Results We described the downregulation of the β‐globin gene in β‐thalassemia by RNA‐sequencing analysis using a sample from an affected individual and her mother, who have a novel mutation in the HBB that creates a cryptic donor splice site. The daughter has a typical β‐thalassemia allele as well, and an unexpectedly severe phenotype. The differentially expressed genes are enriched in pathways that are directly or indirectly related to β‐thalassemia such as hemopoiesis, heme biosynthesis, response to oxidative stress, inflammatory responses, immune responses, control of circadian rhythm, apoptosis, and other cellular activities. Conclusion We compare our findings with published results of RNA‐sequencing analysis of sickle cell disease and erythroblasts from a KLF1‐null neonate with hydrops fetalis, and recognize similarities and differences in their transcriptional expression patterns.

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“…The current cut-off, established thereafter by the AASM, defined periodic limb movement disorder (PLMD) as PLMS > 15/h accompanied by clinical sleep disturbance or a complaint that could not be better explained by another current sleep disorder, medical or neurological disorder, or mental disorder (American Academy of Sleep Medicine, 2005). PLMS has been described in SCD, particularly in children (Rogers et al, 2011;Hankins et al, 2014;Gileles-Hillel et al, 2015). In the absence of dopaminergic alterations, the clinical relevance of PLMS is still a matter of controversy.…”

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confidence: 99%

Periodic limb movement in sleep and sickle cell disease: a neglected association?

et al. 2017

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High frequency of periodic limb movements in sleep (PLMS) has been described among children with sickle cell disease (SCD), but there is little information about PLMS among adults with SCD. We aim to determine the frequency of PLMS among adults with SCD and to identify possible associations with iron status and haemolytic parameters. We analysed polysomnography on 99 adults: 74 with sickle cell anaemia (HbSS), 19 with HbSC (double heterozygosis HbS and HbC) and 6 with HbS-beta thalassaemia. Laboratory data were collected close to the time of the polysomnography examination. The prevalence of PLMS > 5/h was 70% and of PLMS > 15/h 36%, in the total group of patients. No differences were observed regarding gender, use of hydroxyurea and iron parameters. Logistic regression showed an association between PLMS > 15/h and hemolytic parameters: absolute reticulocyte count (p = 0.03) and unconjugated bilirubin (p = 0.01). Our data suggest that PLMS may be associated with manifestations of greater severity in SCD.

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Hemoglobinopathies and sleep – The road less traveled

Cited by 36 publications

References 195 publications

Sleep-disordered breathing and nocturnal hypoxemia in young adults with sickle cell disease

Sleep-disordered breathing and nocturnal hypoxemia in young adults with sickle cell disease

Gene expression in blood from an individual with β‐thalassemia: An RNA sequence analysis

Periodic limb movement in sleep and sickle cell disease: a neglected association?

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