Health-related quality of life in hemoglobinopathies: A systematic review from a global perspective

Abstract

BackgroundSickle cell disease (SCD) and thalassemia are inherited blood disorders, which can lead to life-threatening events and chronic organ damage. Recent advances in treatments have increased life expectancy, and hemoglobinopathies have become chronic illnesses with social and emotional impairments. Thus, health-related quality of life (HRQOL) assessment has a fundamental role in disease management and treatment, and generic and disease-specific questionnaires are reliable and validated measures to estimate disease burden. The heterogeneous distribution of treatment opportunities worldwide influences physical, social, and emotional disease perception.ObjectivesTo review publications concerning HRQOL for SCD and thalassemia in different areas of the world in order to gather a global perspective of questionnaires used and outcomes evaluated.MethodsA systematic review of the literature was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The Medline databases were searched on 29 September 2021. Inclusion criteria were as follows: (1) studies of HRQOL assessment in SCD and thalassemia patients by using the PROMIS, the SF-36, the SCSES, the PedsQL-SCD, the PedsQOL generic core scale, the ASCQ-Me, and the TranQoL; and (2) every article type, including non-English studies. We excluded studies that were not limited to SCD or thalassemia and studies that were not specific to hemoglobinopathies, and not consistent with the topic of HRQOL assessment. We did not include the gray literature. A total of 102 out of 124 articles from PubMed, Cochrane Library, and Google Scholar were eligible for inclusion (66 SCD articles and 36 thalassemia articles). The quality of studies was assessed through Critical Appraisal tools for use in JBI Systematic Reviews. Data extraction was conducted using a standardized data collection form (authors, year and country of publication, study design, age and number of patients, HRQOL questionnaires, questionnaire language, and clinical outcomes).ResultsThe evaluation of HRQOL was conducted on all continents, but differences in the worldwide frequency of HRQOL assessment were observed. HRQOL of SCD patients was less investigated in Europe. HRQOL of thalassemia patients was less investigated in South-East Asia and Africa. Generic HRQOL questionnaires (PROMIS, SF-36, and PedsQL) were frequently adopted, while disease-specific ones (ASCQ-Me, SCSES for SCD, and TranQoL for thalassemia) were less used. Translation into local languages has been often performed.ConclusionHealth-related quality of life is a complex outcome that has been increasingly incorporated in clinical research and clinical practice worldwide, although with regional differences. Disease-specific outcomes (pain for SCD and transfusion burden for thalassemia) and healthcare system characteristics, particularly in low-income countries, have an impact on HRQOL and should be considered in healthcare plans.

Impact of community health workers on quality of life in adolescents and young adults with sickle cell disease: The SHIP‐HU study

“…Reviews have opined for years that all future clinical trials in SCD should collect PROs related to HRQoL whenever possible. 3,11 This will be necessary to better understand key factors that contribute to HRQoL in this at-risk population. HRQoL is a complex construct, and we may not anticipate seeing improvement in HRQoL unless interventions are designed specifically to impact this domain.…”

“…Further, teenage participants with higher HU adherence perceive more HU benefits and have a better emotional response to SCD than those with lower adherence 10 . Young patients with fewer barriers to HU adherence have higher adherence rates 3 . Together, these findings suggest that impacting HRQoL in SCD must involve both biological approaches such as disease modifiers and improvements in social determinants of health, 11 using a biopsychosocial model 12 .…”

“…10 Young patients with fewer barriers to HU adherence have higher adherence rates. 3 Together, these findings suggest that impacting HRQoL in SCD must involve both biological approaches such as disease modifiers and improvements in social determinants of health, 11 using a biopsychosocial model. 12 Thus, several interventions now under study in SCD include improving communication and collaboration among patients, their families and care teams.…”

“…It is poor compared to the general population and individuals living with other chronic pain conditions 2 . It is worse than individuals living with cystic fibrosis or patients who have recently suffered a myocardial infarction 2,3 . HRQoL has thus become a target of SCD evaluations 3 and interventions.…”

“…It is worse than individuals living with cystic fibrosis or patients who have recently suffered a myocardial infarction 2,3 . HRQoL has thus become a target of SCD evaluations 3 and interventions. HRQoL is palpable and proximally important to SCD patients, 4 may be associated with improved biological SCD outcomes, is important to caregivers, 5 and predicts SCD healthcare resource utilization, making it important to policy makers 5,6 …”