Assessing Knowledge, Awareness, and Access to Care Barriers for People with Sickle Cell Disease: A Cross-Sectional Global Pilot Study

Introduction: Sickle cell disease (SCD) is the most prevalent hemoglobinopathy worldwide that leads to Vaso occlusive pain crises, short- and long-term organ toxicity greatly affecting the quality of life (QOL). A truly global hemoglobinopathy SCD is especially prevalent in sub-Saharan Africa, India, and the middle-east. Due to global population migration sizable SCD populations are found in Europe, the Americas, and Australasia. The objective of this study was to understand global demographic, access to care barrier, knowledge gap and health care utilization trends in patients and caregivers affected by SCD.

Methods: We instituted a comprehensive survey instrument incorporating elements from internationally validated tools WHOQOL (World Health Organization Quality of Life),Sickle Cell Quality of Life Measurement Information System (ASCQ-Me),health-related quality of life (HRQoL) across 11 countries with the highest global SCD prevalence across six continents. These countries included Malawi, Nigeria, Uganda, Zambia, India, United Arab Emirates, Belize, Trinidad, and Tobago, United States, Australia, and the United Kingdom. The survey captured a wide-ranging set of demographic data including age at diagnosis, household income, internet/mobile phone connection, smartphone use, among others and SCD specific questions eg. access to genetic counselling, stroke screening, hydroxyurea use, SCD complications among others. Data was collected February to June 2024 and analysed using descriptive statistics. Continuous variables, like age, are represented as the mean ± standard deviation (SD), while categorical variables are shown as counts and percentages (n (%).

Results: 110 participant responses until the time of this submission were analysed. Mean age was 24.06 years (SD = 11.56, range 1- 60). Most respondents were self-reporting (70.9%), female (64.5%), and from Zambia (41.8%). Access to a smart phone with applications was reported by 87.3% of participants. Only 18.2% had insurance coverage for all SCD-related costs, 62.7% depend on government healthcare. The most common SCD genotype among respondents was SS (54.5%), with others including SC (3.6%) and S Beta Thalassemia (9.1%). The majority (59.1%) indicated that both parents had SCD, but some (21.8%) did not know their parents' status.87.3% of participants understood that SCD is a familial/genetic disorder, while 10.3% did not. A significant majority (98.2%) knew that SCD is a lifelong condition, although 0.9% believed it only lasts through childhood, and another 0.9% were unsure. When asked about the prevention of future trait transition, the majority (71.8%) demonstrated an understanding. Awareness levels revealed that 60.9% of respondents knew that SCD can be cured, and 67.3% were aware of stem cell transplant options. Regarding support groups or assistance from organizations, 50.9% of participants were aware, while 48.6% were not. Most respondents (69.1%) received genetic counselling, but access to mental health services was significantly lower, with only 15.5% having received such care.

Discussion: The findings from this study highlight significant gaps in knowledge and access to care among individuals affected by SCD. Despite the high level of understanding regarding the genetic nature and lifelong aspect of SCD, considerable population globally lack critical information about prevention and available treatments. The disparity in awareness about cure options and support services further underscores the need for targeted educational interventions. Unmet needs stemming from lack of insurance coverage for SCD-related costs and limited access to mental health services points to systemic barriers that hinder the overall QOL. Addressing these gaps through comprehensive healthcare policies focusing on improved access to mental health and genetic/pre-marital counselling is as essential in the developing world as it is an unmet need in low-income households of developed nations.

This study provides a foundational understanding that can guide future research and policymaking, ultimately aiming to enhance the QOL for patients with SCD globally. Ongoing work on this project would allow the investigators to assess these global trends deeply and with a larger sample size able to compare differences in these outcomes among high- and low-income countries.

Jain:Beam Therapeutics: Other: End point adjudication committee; Hemex Health: Consultancy; Sanofi: Speakers Bureau; Blue Bird Bio: Other: End point adjudication committee ; NovoNordisk: Speakers Bureau.