Life after sickle cell disease, is it really uhuru?
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ABSTRACT:
SUBMITTER: Pecker LH
PROVIDER: S-EPMC10957145 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
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Life after sickle cell disease, is it really uhuru?
Pecker Lydia H LH Akinsete Adeseye M AM Carroll C Patrick CP Lanzkron Sophie S Kuo Kevin H M KHM Hulbert Monica M Stenger Elizabeth E Darbari Deepika S DS
The Lancet. Haematology 20231201 12
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Project description:ImportanceIndividuals with sickle cell disease (SCD) have reduced life expectancy; however, there are limited data available on lifetime income in patients with SCD.ObjectiveTo estimate life expectancy, quality-adjusted life expectancy, and income differences between a US cohort of patients with SCD and an age-, sex-, and race/ethnicity-matched cohort without SCD.Design, setting, and participantsCohort simulation modeling was used to (1) build a prevalent SCD cohort and a matched non-SCD cohort, (2) identify utility weights for quality-adjusted life expectancy, (3) calculate average expected annual personal income, and (4) model life expectancy, quality-adjusted life expectancy, and lifetime incomes for SCD and matched non-SCD cohorts. Data sources included the Centers for Disease Control and Prevention, National Newborn Screening Information System, and published literature. The target population was individuals with SCD, the time horizon was lifetime, and the perspective was societal. Model data were collected from November 29, 2017, to March 21, 2018, and the analysis was performed from April 28 to December 3, 2018.Main outcomes and measuresLife expectancy, quality-adjusted life expectancy, and projected lifetime income.ResultsThe estimated prevalent population for the SCD cohort was 87 328 (95% uncertainty interval, 79 344-101 398); 998 were male and 952 were female. Projected life expectancy for the SCD cohort was 54 years vs 76 years for the matched non-SCD cohort; quality-adjusted life expectancy was 33 years vs 67 years, respectively. Projected lifetime income was $1 227 000 for an individual with SCD and $1 922 000 for a matched individual without SCD, reflecting a lost income of $695 000 owing to the 22-year difference in life expectancy. One study limitation is that the higher estimates of life expectancy yielded conservative estimates of lost life-years and income. The analysis only considered the value of lost personal income owing to premature mortality and did not consider direct medical costs or other societal costs associated with excess morbidity (eg, lost workdays for disability, time spent in the hospital). The model was most sensitive to changes in income levels and mortality rates.Conclusions and relevanceIn this simulated cohort modeling study, SCD had societal consequences beyond medical costs in terms of reduced life expectancy, quality-adjusted life expectancy, and lifetime earnings. These results underscore the need for disease-modifying therapies to improve the underlying morbidity and mortality associated with SCD.
| S-EPMC6902797 | biostudies-literature
Project description:BackgroundGrenada is a small, resource-limited Caribbean country with a high incidence of sickle cell disease (SCD). Since little is known about the challenges facing individuals living with SCD in the West Indies, we sought to assess barriers to healthcare and the impact of SCD on quality of life in Grenada.MethodsBoth adults aged 18+ (n = 19) and caregivers of children aged 2-17 (n = 26) completed validated survey measures regarding barriers to care and quality of life, along with a genetics knowledge questionnaire. Caregivers also completed a caregiver burden scale. Survey scores were calculated, and responses were analyzed for an association between demographic variables.ResultsThe Barriers to Care Questionnaire, in which lower scores indicate more barriers, revealed that both adults (mean = 69.9) and children (mean = 75.5) with SCD experienced reduced access to care. The Adult Sickle Cell Quality of Life Measurement Information System indicated increased depression and loneliness in adults, with the lowest scores in the Emotional subscale. However, the Pediatric Quality of Life Inventory answered by caregivers of children with SCD showed the lowest scores in the Physical Functioning subscale. Further analysis using the Caregiver Burden Scale-Zarit Burden Interview revealed that 53.8% of caregivers of children with SCD indicated "little to no burden," which may reflect a difference in cultural expectations of a caregiver between high-income countries and Grenada. Finally, ~80% of respondents knew that SCD was a genetic condition; however, 61%-84% could not correctly indicate recurrence risks, demonstrating a need for additional education.ConclusionThese data provide new insights regarding the experience of living with SCD in Grenada and support the need for further investigations into specific barriers to healthcare delivery, which could also improve education and well-being for those affected by SCD in Grenada and in the broader Caribbean community.
| S-EPMC7963427 | biostudies-literature
Project description:Sickle cell disease (SCD) results in chronic hemolytic anemia, recurrent vascular occlusion, insidious vital organ deterioration, early mortality, and diminished quality of life. Life-threatening acute physiologic crises may occur on a background of progressive diminishing vital organ function. Sickle hemoglobin polymerizes in the deoxygenated state, resulting in erythrocyte membrane deformation, vascular occlusion, and hemolysis. Vascular occlusion and increased blood viscosity results in functional asplenia and immune deficiency in early childhood, resulting in life-long increased susceptibility to serious bacterial infections. Infection remains a main cause of overall mortality in patients with SCD in low- and middle-income countries due to increased exposure to pathogens, increased co-morbidities such as malnutrition, lower vaccination rates, and diminished access to definitive care, including antibiotics and blood. Thus, the greatest gains in preventing infection-associated mortality can be achieved by addressing these factors for SCD patients in austere environments. In contrast, in high-income countries, perinatal diagnosis of SCD, antimicrobial prophylaxis, vaccination, aggressive use of antibiotics for febrile episodes, and the availability of contemporary critical care resources have resulted in a significant reduction in deaths from infection; however, chronic organ injury is problematic. All clinicians, regardless of their discipline, who assume the care of SCD patients must understand the importance of infectious disease as a contributor to death and disability. In this concise narrative review, we summarize the data that describes the importance of infectious diseases as a contributor to death and disability in SCD and discuss pathophysiology, prevalent organisms, prevention, management of acute episodes of critical illness, and ongoing care.
| S-EPMC7044152 | biostudies-literature
Project description:Sickle cell disease (SCD) is a chronic, debilitating disorder. Chronically ill patients are at risk for depression, which can affect health-related quality of life (HRQoL), health care utilization, and cost. We performed an analytic epidemiologic prospective study to determine the prevalence of depression in adult patients with SCD and its association with HRQoL and medical resource utilization. Depression was measured by the Beck Depression Inventory and clinical history in adult SCD outpatients at a comprehensive SCD center. HRQoL was assessed using the SF36 form, and data were collected on medical resource utilization and corresponding cost. Neurocognitive functions were assessed using the CNS Vital Signs tool. Pain diaries were used to record daily pain. Out of 142 enrolled patients, 42 (35.2%) had depression. Depression was associated with worse physical and mental HRQoL scores (P < .0001 and P < .0001, respectively). Mean total inpatient costs ($25 000 vs $7487, P = .02) and total health care costs ($30 665 vs $13 016, P = .01) were significantly higher in patients with depression during the 12 months preceding diagnosis. Similarly, during the 6 months following diagnosis, mean total health care costs were significantly higher in depressed patients than in nondepressed patients ($13 766 vs $8670, P = .04). Depression is prevalent in adult patients with SCD and is associated with worse HRQoL and higher total health care costs. Efforts should focus on prevention, early diagnosis, and therapy for depression in SCD.
| S-EPMC5728280 | biostudies-literature
Project description:BackgroundPediatric health-related quality of life (HRQOL) questionnaires have been validated in children with sickle cell disease (SCD), but small sample sizes in these studies have limited clinical comparisons. We used the baseline clinical data from the Collaborative Data (C-Data) Project of the Comprehensive Sickle Cell Centers (CSCC) Clinical Trial Consortium to perform a detailed, descriptive study of HRQOL using the PedsQL version 4.0 generic core and fatigue scales.MethodsRetrospective clinical data were obtained via medical record abstraction. Staff-administered health history, psychosocial, and health behavior interviews were completed by a parent or guardian. PedsQL forms were completed separately by the child and a parent/guardian.ResultsThe study enrolled 1,772 subjects (53% boys) with a mean age of 9.6 years (SD 4.7). SS or Sbeta(0) thalassemia occurred in 68% and 32% had SC or Sbeta(+) thalassemia. The occurrences of pain, priapism, avascular necrosis of hips/shoulders (AVN), or asthma were the most common complications/conditions reported. Multiple regression models controlling for hemoglobinopathies, gender, and age suggested that parent reports of physical functioning and sleep/rest fatigue declined in response to pain or AVN, while school functioning scales declined in response to pain or asthma. Sickle pain, and to a lesser extent asthma, negatively influenced child reports on almost all functioning and fatigue scales.ConclusionsWhile longitudinal studies will be necessary to determine sensitivity to change, the current study suggests the potential utility of several PedsQL HRQOL scales as patient-reported outcome measures for observational or interventional treatment studies of children and adolescents with SCD.
| S-EPMC2911637 | biostudies-literature
Project description:Sickle cell syndromes, including sickle cell disease (SCD) and sickle cell trait, are associated with multiple kidney abnormalities. Young patients with SCD have elevated effective renal plasma flow and glomerular filtration rates, which decrease to normal ranges in young adulthood and subnormal levels with advancing age. The pathophysiology of SCD-related nephropathy is multifactorial - oxidative stress, hyperfiltration and glomerular hypertension are all contributing factors. Albuminuria, which is an early clinical manifestation of glomerular damage, is common in individuals with SCD. Kidney function declines more rapidly in individuals with SCD than in those with sickle cell trait or in healthy individuals. Multiple genetic modifiers, including APOL1, HMOX1, HBA1 and HBA2 variants are also implicated in the development and progression of SCD-related nephropathy. Chronic kidney disease and rapid decline in estimated glomerular filtration rate are associated with increased mortality in adults with SCD. Renin-angiotensin-aldosterone system inhibitors are the standard of care treatment for albuminuria in SCD, despite a lack of controlled studies demonstrating their long-term efficacy. Multiple studies of novel therapeutic agents are ongoing, and patients with SCD and kidney failure should be evaluated for kidney transplantation. Given the high prevalence and severe consequences of kidney disease, additional studies are needed to elucidate the pathophysiology, natural history and treatment of SCD-related nephropathy.
| S-EPMC9832386 | biostudies-literature
Project description:Early identification of infants with sickle cell disease (SCD) by newborn screening, now universal in all 50 states in the US, has improved survival, mainly by preventing overwhelming sepsis with the early use of prophylactic penicillin. Routine transcranial Doppler screening with the institution of chronic transfusion decreases the risk of stroke from 10% to 1% in paediatric SCD patients. Hydroxyurea decreases the number and frequency of painful crises, acute chest syndromes and number of blood transfusions in children with SCD. Genetic research continues to be driven toward the prevention and ultimate cure of SCD before adulthood. This review focuses on clinical manifestations and therapeutic strategies for paediatric SCD as well as the evolving topic of gene-focused prevention and therapy.
| S-EPMC3899685 | biostudies-other
Project description:Adults with Sickle Cell Disease (SCD) experience multiple disease-related complications, but few studies have examined relationships between these events and health-related quality of life (HRQOL). We determined the number and type of previous or co-occurring SCD-related complications and their reported HRQOL in a cohort of 1,046 adults from the Comprehensive Sickle Cell Centers (CSCC). Participants had a median age of 28.0 years (48% male, 73% SS or Sβ⁰ thalassemia) and had experienced several SCD-related complications (mean 3.8 ± 2.0), which were influenced by age, gender, and hemoglobinopathy type (P < 0.0001). In multivariate models, increasing age reduced all SF-36 scales scores (P < 0.05) except mental health, while female gender additionally diminished physical function and vitality scale scores (P < 0.01). Of possible complications, only vaso-occlusive crisis, asthma, or avascular necrosis diminished SF-36 scale scores. Chronic antidepressants usage predominantly diminished scores on bodily pain, vitality, social functioning, emotional role, and mental health scales, whereas chronic opioid usage diminished all scale scores (P < 0.01). Our study documents substantial impairment of HRQOL in adults with SCD that was influenced by only a few of many possible medical complications. It suggests that more effective treatments of persistent pain and depression would provide the largest HRQOL benefit.
| S-EPMC3554393 | biostudies-literature
Project description:To determine gene expression in humanized SCD Berkeley lung compared to WT control lung
2020-02-10 | GSE114709 | GEO
Project description:PurposeTo assess the quality of life (QoL) of caregivers of children with sickle cell disease (SCD) and to determine the risk factors associated with poor QoL.MethodA cross sectional study was conducted between 01 and 30 June 2015, in a tertiary care center in western Saudi Arabia to assess various dimensions of QoL by using TNO-AZL Questionnaire for Adult's Health-related Quality of Life (TAAQOL). A total 164 adult caregivers (aged 16 years or more) of children with SCD, who were regularly visiting the department were enrolled (refusal rate = 61.6%). The questionnaire scores were transformed into 0-100 scale; with higher scores indicating less difficulty and better QoL Demographic, socioeconomic data and a satisfaction questionnaire regarding participants' lifestyle were collected and analyzed as risk factors for impaired QoL, by comparing different QoL dimensions' scores using independent t-test, Oneway ANOVA, or linear regression, as appropriate.ResultsSixty-three caregivers were included; 79.4% were mothers, age range 21-71 years, 64.5% were from low social class receiving insufficient support and financial needs were unmet for considerable number of families. Analysis of QoL using TAAQOL showed that emotions (median [75th centile] = 44.44 [66.67] for negative and 61.11 [72.22] for positive emotions), sleep quality (66.67 [91.67]) and sexual life (50.00 [83.33]) were the most affected dimensions. Professional achievement (91.67 [100]), cognitive skills (83.33 [100]), and social contact (100 [100]) were relatively preserved. Negative emotions were more marked in mothers and mostly predicted by satisfaction with social relations notably with partner (B = 3.14, p = 0.016), friends (B = 2.51, p = 0.015) and relatives (B = 2.69, p = 0.016). Positive emotions were predicted by the levels of satisfaction of the caregiver with his/her health (B = 2.56, p = 0.001), job achievement (B = 4.54, p = 0.001), living conditions (B = 2.60, p = 0.034) and the condition of the diseased child (B = 2.55, p = 0.011). A strong correlation was found between sleep quality and cognitive skills.ConclusionThere are notable financial and emotional burdens on the caregivers of children with SCD affecting various aspects of their QoL, which are likely to be impacted by the individual levels of social and professional achievement. Physicians and health authorities should give particular attention to the QoL of caregivers and families of children with SCD, to help them cope up with the disease and overcome its related psychological and financial impacts.
| S-EPMC6131823 | biostudies-literature