Advance Care Planning in Sickle Cell Disease: A Scoping Review

Introduction

Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by the sickling of red blood cells, leading to a range of acute and chronic medical complications. ¹ It is one of the most common monogenetic diseases, affecting approximately 100,000 people in the United States ¹ and more than 7 million worldwide. ² A majority of individuals with SCD are born in sub-Saharan Africa, ³ and approximately 90% of people in the United States living with SCD identify as Black or African American. ² First described in Western literature in 1910, ⁴ SCD was long considered a disease of childhood, with most patients dying from complications of the disease prior to the age of 30. ⁵ Advances in care, including newborn screening programs, prophylactic antibiotics in childhood, and the more widespread use of hydroxyurea, have extended average life expectancy significantly. In the United States, we expect nearly all children born with SCD to survive into adulthood, ⁶ and many patients are now living well into their forties and beyond.^5,7,8

Despite these advances, such as hydroxyurea, bone marrow transplantation, and gene therapy, the disease course remains severe and unpredictable. Life expectancy at birth for people with SCD is 52.6 years in the United States, as compared with 75 years for the general Black population without SCD, ⁹ and many patients still die in early adulthood. ⁶ Individuals who survive into later adulthood accumulate significant morbidity including multisystem organ dysfunction (neurological, renal, cardiovascular, pulmonary, bone, gastrointestinal, and others), ¹ and complex issues related to chronic pain and the psychosocial challenges of living with a lifelong chronic illness.^10,11 When early mortality does occur, it is often due to a sudden, severe complication of SCD such as sepsis, stroke, or other end-organ failure. ¹² In addition to the medical complexity and uncertain illness trajectory faced by individuals with SCD, decision making is often further complicated by psychosocial factors including systemic bias on the basis of race, SCD diagnosis, and opioid use.^13,14 Over the past 15 years, there has therefore been increasing advocacy for integrating palliative care (PC) into the management of SCD to support patients and families across the illness trajectory.^7,15–18

PC is defined as “the active holistic care of individuals across all ages with serious health-related suffering due to severe illness and especially those near the end of life.” ¹⁹ It includes understanding the family support structure, effective communication, symptom management, and attention to psychological, social, and spiritual well-being. ²⁰ Advance care planning (ACP) is an aspect of PC that has long been thought of as a way to help align care with patient goals, thus improving care during times of critical illness or near the end of life (EOL). A multidisciplinary Delphi panel defined ACP for adults as “a process that supports adults at any age or stage of health in understanding and sharing their personal values, life goals, and preferences regarding future medical care” with a goal of helping to “ensure that people receive medical care that is consistent with their values, goals and preferences during serious and chronic illness.” ²¹ When implemented effectively, ACP supports medical teams in aligning care with patient preferences by helping individuals to articulate their values, priorities, and treatment preferences ahead of a medical emergency, and preparing them and their surrogates for in-the-moment decision making. ²² For individuals with SCD, who are at risk for numerous serious health complications and early mortality, ACP is a critical component of ensuring person-centered, goal-concordant care.^17,23

The purpose of this article is to provide a scoping review of the current literature on ACP in people with SCD, and highlight areas for further research within the field. Understanding the current landscape of ACP in this population, and how to tailor strategies toward clinically relevant outcomes may provide an opportunity to ensure that care remains aligned with their goals, through shared decision making, and strengthened trust between patients, families, and care teams.

Methods

Data management

All results from the literature search were uploaded into Covidence for data management (426 publications). An additional 14 articles were uploaded based on the manual citation review (total 440). A total of 97 duplicates were identified, resulting in 343 unique publications for screening (Fig. 1). Two reviewers independently screened all titles and abstracts using the predetermined inclusion and exclusion criteria (M.R.M. and M.R.A.). Conflicts were resolved by a third reviewer (R.N.). At the full-text screening stage, each article was reviewed independently by two reviewers (M.R.M. and M.R.A.), and conflicts were resolved through discussion with a third reviewer (R.N. or S.K.).

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Fig. 1.

PRISMA Flow Diagram.

Results

A total of nine articles met inclusion criteria for this scoping review and were included for data extraction (Fig. 1).

Characteristics of included evidence

All studies were conducted in the United States and published between 2010 and 2025. Study designs included three qualitative studies, four commentaries, one pre–post survey study, and one case–control study (Table 1). Among studies that reported mean age, values ranged from 38 to 58 years.^28,29

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Table 1.

Study Characteristics

Study design	Title	Study ID	Population description	Age, yearsmean (range)	Types of ACP/related topics discussed	Described frequency of ACP
Qualitative research	Barriers and Facilitators of Advance Care Planning for Older Adults with Sickle Cell Disease	Oyedeji 2020	Older adults with SCD from a comprehensive SCD center in the southeastern United States	57 (50–71)	• Formal documentation of preferences a • Informal or unstructured conversation • Informal written documentation of preferences	4/19 had written advance directives; most were comfortable and willing to discuss ACP
Qualitative research	Experiences of African Americans Living With Sickle Cell Disease	Wickersham 2022	Adults with SCD from the southeastern United States; took place in a community center; purposefully sampled to include diversity of age and sex	40.94 (22–71)	• Palliative care involvement • End-of-life care	N/A
Qualitative research	“Death is as Much Part of Life as Living”: Attitudes and Experiences Preparing for Death from Older Adults with Sickle Cell Disease	Oyedeji 2022	Older adults with SCD from a single comprehensive SCD center in Southeastern United States; enrolled in parent study that focused on developing a geriatric assessment for older adults with SCD	58 (50–71)	• Formal documentation of preferences a • Informal or unstructured conversation • Funeral planning • Informal written documentation of preferences • Preferences for life-prolonging interventions b	4/19 completed written advance directive (such as living will or POA); most had discussed funeral plans. Most reported they had not been approached by provider about completing AD, but if given the opportunity would be comfortable discussing ACP with SCD provider. A few reported they were given AD forms before surgery, but no one had discussed with them in detail.
Commentary	Sickle cell disease: An opportunity for palliative care across the life span	Wilkie 2010	N/A		• Formal documentation of preferences a • Formal conversations (serious illness conversation) • Informal or unstructured conversation • Preferences for life-prolonging interventions b	N/A
Commentary	Palliative Care Teams as Advocates for Adults with Sickle Cell Disease	Ajayi 2016	N/A		• Formal documentation of preferences a • Informal or unstructured conversation • Informal written documentation of preferences	N/A
Commentary	End-of-life care for people with sickle cell disease: barriers to and facilitators of high-quality care	Patel 2024	N/A		• Formal documentation of preferences a • Formal conversations (serious illness conversation) • Informal or unstructured conversation • Preferences for life-prolonging interventions b • Preferences for intensive interventions (transplant, gene therapy) • End-of-life care	N/A
Commentary	Beyond the traditional oncology patient: The role of palliative care in patients with sickle cell disease receiving stem cell transplantation or gene therapy	Collins 2025	N/A		• Formal documentation of preferences a • Formal conversations (serious illness conversation) • Informal or unstructured conversation • Preferences for intensive interventions (transplant, gene therapy) • End-of-life care • Medical decision-making processes	N/A
Pre–post c	Advance care planning in adults with Sickle Cell Disease (SCD)	Bartholomew 2010	Adults with SCD in the United States	38.07 mean (mean age female 40.3, male 33.6)	• Formal documentation of preferences a • Informal or unstructured conversation	87% (61/70) had no written decisions for end-of-life medical treatment
Case–control study	Acute Care Utilization at End of Life in Sickle Cell Disease: Highlighting the Need for a Palliative Approach	Johnston 2020	Deceased cohort cases: people with SCD who died between 2006 and 2015 in the United States. Living controls: people from the California Sickle Cell Data Collection database who were randomly selected and matched to deceased cases 1:1	Mean age at death: 44.1 years (SD 15.6)	• Formal documentation of preferences a • Opportunities to discuss legacy	N/A

a

Formal documentation of preferences includes: DNR/DNI, health care proxy/POA, completing a MOLST (medical orders for life-sustaining treatment) or equivalent formal documentation, will or legal advance directive.

b

Life-prolonging interventions include: intubation, cardiopulmonary resuscitation.

c

Intervention was an ACP education session.

ACP, advance care planning; DNR, do-not-resuscitate; SCD, sickle cell disease; POA, power of attorney; AD, advance directive.

Barriers and facilitators to ACP

The included articles discussed a variety of proposed barriers and facilitators to ACP for people with SCD (Table 2). These barriers and facilitators represent a combination of patient-reported data (from qualitative studies), as well as expert opinion (from commentaries). Broadly, these factors can be grouped based on the socio-ecological model as individual factors and external factors (relational, community, societal). ³¹ Individual factors that may facilitate ACP included patient–clinician trust and patient knowledge about SCD. Prior experiences with critical illness, EOL care, and ACP, as well as individual religious or spiritual beliefs, could act as either barriers or facilitators depending on context. Possible barriers included ineffective clinician communication, lack of patient knowledge about PC and ACP, fear of being denied EOL treatment, and clinician reluctance to discuss death and dying with a relatively young patient population.

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Table 2.

Proposed Barriers and Facilitators to Advance Care Planning

Study ID	Facilitators to ACP	Barriers to ACP
Oyedeji 2020	• Discussion at the right time: participants preferred to discuss ACP when they were not sick in the hospital • Provider familiarity and knowledge (of the individual patient as well as SCD generally) Participants identified their SCD provider, PCP, or pulmonologist as suitable providers to talk to about ACP • Presence of family • Assistance in completing ACP documents (from someone outside the health system such as church, lawyer, family) • Personal or family member experiences with ACP/EOL	• Lack of communication from trusted healthcare providers about ACP preferences • Inappropriate contexts for ACP discussions: being approached by unfamiliar providers while sick in the hospital • Trust: concern that being asked about ACP while sick meant providers were giving up on them; unsure if they could trust providers or family members to carry out their EOL wishes as written • Difficulty navigating ACP documents • EOL planning inconsistent with religious beliefs
Wickersham 2022	No specific facilitators to ACP discussed	• Lack of clinician and patient knowledge regarding PC
Oyedeji 2022	• Prior experience where family had difficulty communicating their wishes while they were incapacitated • Timing of filling ACP out documentation “on their own terms” • Feeling as though God was directing them to fill out ACP documentation	• Less experience and knowledge about living wills, or selecting a health care power of attorney • History of recovering from an episode of respiratory failure requiring intubation leading to strong feelings about receiving life-saving measures again in the future • Mistrust in the healthcare system (not trusting they will do everything they can to keep the patient alive) • Concern that completing an advance directive is like giving healthcare providers a license to kill them • Being asked to complete an advance directive while having severe SCD complications (difficult to think clearly while in pain, sick in the hospital on sedating meds, feels like team is giving up on them) • Belief that God has a set time for their death • Health care providers' reluctance to discuss death with individuals with SCD due to their relatively young age compared to older adults with chronic life-limiting illnesses
Wilkie 2010	• Clinician awareness of external (environmental) factors, such as cultural norms that contribute to ACP • Integrated PC • Awareness of SCD transmission and disease trajectory • Effective communication	• Fear that they may be denied treatment at the EOL and therefore are unlikely to complete an advance directive
Ajayi 2016	No specific facilitators to ACP discussed	• Mistrust among AA patients of the medical profession • PC providers are likely to encounter a patient who has experienced marginalization and discrimination who feels lost, helpless, and hopeless (difficult place to start) • Medical system emphasis on legal documentation of preferences, with AA patient preference to not legally document ACP conversations
Patel 2024	• PC involvement • Multidisciplinary care (complex management of multiple chronic diseases that can impact decision making) • Open communication between PC and hematology services • Discuss preferences early with a familiar provider who understands the severity of the disease and/or complications • Revisiting preferences over time, preferably during a period of relative wellness rather than during an acute illness • Knowing who the patient wants involved in decision making, and how religion/spirituality and previous experiences with serious illnesses affect decision making about a patient’s health	• Both acute and chronic SCD complications make prognostic uncertainty a challenge, so it is difficult to know when to initiate EOL decision making, particularly in the era of improved outcomes with HSCT and GT • Complex multiple morbidities (e.g., ESRD on HD) makes it difficult to make a decision to stop therapies and consider enrolling in hospice services (where disease-directed therapy needs to be stopped) • Limited health literacy, which disproportionately impacts racial and ethnic minorities and can be further magnified by language barriers and SCD-related cognitive disorders • Prior experiences with the healthcare system which informs medical decision making • Knowledge of the experiences of others (with SCD or other chronic illnesses) • Social determinants of health and structural racism, leading to distrust of the medical system • Lack of racial/ethnic congruity between SCD clinicians and patients • Prior experiences with death and illness, or cultural beliefs and values • Reluctance to discuss EOL • Lack of training to assess for spiritual needs may result in clinicians inadequately identifying religious/spiritual considerations in EOL decisions for people with SCD
Collins 2025	• Early integration of PC teams which allows development of trusting, therapeutic relationships which enables and facilitates high stakes conversations if patients suffer life-threatening consequences that lead to changes in goals of care	• Limited PC clinician experience caring for this patient population • Discrimination and mistrust of the healthcare system
Bartholomew 2010	• Providing information about ACP	• Younger age
Johnston 2020	No specific facilitators to ACP discussed	• Location of care at community hospital rather than specialty center • Unpredictability of mortality risk

EOL, end-of-life; PCP, primary care provider; AA, African American; HSCT, hematopoietic stem cell transplant; GT, gene therapy; ESRD, end-stage renal disease; HD, hemodialysis; PC, palliative care.

External factors that may impact ACP in SCD included care setting (community hospital versus specialty center), timing and context of the request to engage in ACP conversations or documentation, presence of family during the conversations, and involvement of specialty teams (pain, PC). Systemic issues such as discrimination, marginalization, and mistrust in the healthcare system were also noted as possible barriers.

Proposed next steps for advancing ACP in SCD

Education and early integration

Several studies recommended strategies for enhancing ACP for people with SCD including increasing awareness of PC and EOL care among people with SCD,^28,29,32 and developing educational resources and anticipatory guidance for patients and caregivers of children with SCD. ¹⁶ Additionally, numerous authors advocated for the early integration of PC into routine SCD management.^{7,15,17,18,32}

Trust, communication, and relationship building

Patient–clinician trust was highlighted as a key component of effective ACP, particularly in the SCD population in the United States, which is composed primarily of Black and Brown individuals, and has experienced intersectional discrimination and marginalization in health care and medical research.^16,17,32 Studies noted that building trusting patient–clinician relationships may require more time and effort for individuals with SCD, especially when the clinical workforce does not look like the patients they are serving. ¹⁸ Numerous articles highlighted a need for improved patient–clinician communication in the care of people with SCD,^7,16,32 which may help minimize suspicion and mistrust in the medical team. ⁷ Studies also emphasized the importance of continuity of care and longitudinal relationship-building to improve the care of this patient population, and noted that in some clinical contexts, PC teams may provide continuity of care across the lifespan. ¹⁷

Further research

Many articles highlighted a need for further research and development of patient-centered ACP interventions tailored to the needs of individuals living with SCD. Proposed areas for further research are detailed in Table 3.

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Table 3.

Areas for Further Research

Study ID	Areas for further research
Oyedeji 2020	• Future research to obtain providers’ perspectives on barriers to initiating conversations about ACP with adults with SCD • Development of patient-centered and culturally sensitive interventions to improve ACP in adults with SCD
Wickersham 2022	• Development of SCD-targeted PC interventions
Oyedeji 2022	• Utility of a parallel planning approach to improve communication about death • Exploration of the viewpoints of younger adults with SCD • Exploration of appropriate timing to discuss EOL plans • Future studies to explicate the preferences, barriers, and facilitators of ACP for older adults with SCD • Design of interventions tailored to patient preferences to improve opportunities for and quality of ACP discussions between patients and providers and improve patient confidence in completing advance directives
Ajayi 2016	• Additional research to define the structure and role of ACP conversations over the lifetime of people with SCD
Patel 2024	• Development of guidelines to identify when and how PC should be integrated within existing models of SCD care • Further research into people with SCDs' perceptions of and willingness to engage with PC • Further educational initiatives that support developing clinicians who are sensitive to SCD patients’ needs, and the development of a workforce that looks like our patients • Research about how people with SCD define high-quality EOL care, how to best integrate PC into SCD care, and how HSCT and GT impact EOL care for people with SCD • There is a need for data about PC and hospice utilization in people with SCD, as this remains relatively unstudied
Collins 2025	• As curative-intent therapies continue to evolve, there is an opportunity for PC, transplant/gene therapy teams and SCD teams to collaborate with patients to develop implementable models for high-quality, multidisciplinary care for people with severe SCD and their families
Johnston 2020	• Determine whether SCD programs are incorporating best practices to address ongoing pain management and EOL issues in young people with SCD • Initial research should focus on (1) determining what proportion of patients with SCD are completing ACP and (2) determining how, when, and which patients with SCD would most benefit from integrating ACP with comprehensive SCD care • Developing risk prediction models for early mortality for patients with SCD should be a research priority and can help guide the timing of ACP and specialty PC integration into the SCD care model • Established models of integrating specialty and primary PC in children with complex conditions could inform how to best integrate PC into comprehensive SCD

Discussion

To our knowledge, this is the first review to focus on ACP in people with SCD. Despite intentionally broad inclusion criteria, only nine publications were ultimately included for review. While we work to expand the knowledge base on this topic, this scoping review provides a summary of proposed facilitators and barriers of ACP for individuals with SCD, along with actionable recommendations for enhancing ACP for this population.

ACP, as a component of comprehensive SCD care, has the potential to optimize patient-centered, goal-concordant care for a population with a highly unpredictable and severe disease, which often experiences discrimination, marginalization, poor communication, and mistrust in the healthcare system.^33–36 The discrimination and health inequities experienced by this population are glaring and wide-reaching. One study reported that approximately 30% of children with SCD reported high levels of health-related stigma and perceived racial bias, which was associated with decreased health-related quality of life. ³⁷ Additionally, perceived discrimination in this population is associated with decreased trust in the medical profession, and those with prior discrimination were 53% more likely to report nonadherence to physician recommendations. ³⁸ Clear inequities have also been demonstrated in access to expert clinicians^39–41 and comprehensive care centers, ⁴² inpatient PC utilization, ⁴³ and emergency department wait times, which are significantly longer for people with SCD despite adjustment for race, pain score, and assigned triage priority. ³⁶ These are just a few of the many disparities in health care impacting the lives of people with SCD. We hope that ACP, as part of holistic serious illness care for people with SCD, may serve to improve communication and trust and mitigate some of these disparities.

Despite growing interest in the topic of ACP in SCD, with 7 of the 9 included articles published within the last 10 years, the evidence available to guide ACP best practices in people with SCD remains limited at this time. The evidence is particularly lacking for younger adults despite the unpredictability of the disease, and the known peak in mortality seen in the transition from pediatric to adult care. ⁴⁴ Understanding the gaps in the existing literature is a valuable place to start in developing interventions that are relevant to supporting this vulnerable population with a severe, life-limiting illness.

While our study reveals a dearth of information on the frequency of ACP in people with SCD, the available data suggest that most individuals with SCD do not have written advance directives or documented wishes for EOL care but are open to discussing ACP with their SCD clinicians.^28–30 These conversations are becoming even more important with the increased availability of transformative therapies (bone marrow transplant, gene therapy), which brings hope for improved quality and length of life, along with complex decision-making surrounding these high-risk, elective interventions. ⁴⁵

Clinicians can begin to utilize some of the proposed facilitators of ACP highlighted by this review to start shaping ACP conversations with patients. A trusted SCD clinician can raise the topic of ACP with patients and families in the outpatient setting during periods of clinical stability to optimize the chances that these conversations will be productive and well received. In more complex cases, involvement of specialty teams (e.g., pain, PC) may also be helpful. In a study of patients with cystic fibrosis, another genetic disease causing lifelong serious illness, the occurrence of a CF clinician speaking to a patient about ACP was associated with completion of an advance directive, demonstrating the potential impact of these conversations with trusted disease experts. ⁴⁶

Multiple research and clinical groups have also advocated for the early integration of PC into the routine management of SCD and the need for improved patient awareness of PC and EOL care. Further research and community engagement are needed to understand how PC in SCD care can be effectively implemented and studied. Additionally, further research should be aimed at understanding patients with SCD, caregivers, and clinicians' perspectives on the numerous facets of ACP to inform the development of targeted interventions to provide goal-concordant care throughout the lifespan of individuals with SCD.

Though the search criteria for this scoping review focused on ACP, several of the included studies also discussed serious illness communication (SIC) between patients and clinicians.^{7,16–18,28–30} SIC “focuses on the patient’s current illness experience and occurs with a trusted clinician who understands the medical aspects of the serious illness and the importance of creating safety for the patient to talk about the illness as well as its effects and meaning.” ⁴⁷ For the purpose of this review, ACP refers to discussions or documentation of the patient’s illness preferences and priorities for their future medical care that take place during the period of clinical stability, whereas SIC refers to conversations about decision making or coping with current or ongoing disease complications. There is significant overlap between the processes of ACP and SIC, and both are important for the SCD population. ⁴⁸ Future research will elucidate specific SIC recommendations for the SCD population.

Conclusions

There are multiple barriers to optimal medical care for people living with SCD, including lack of SCD experts (particularly for adult care),^39,40 lack of adequate research funding, ⁴⁹ and racial bias in healthcare. ⁵⁰ ACP conversations led by longitudinal SCD clinicians and PC specialists integrated into multidisciplinary SCD teams may bolster patient-centered, goal-concordant SCD care and counteract some of the systemic barriers to care faced by people living with SCD. Further studies are needed to understand and evaluate how to effectively tailor and enhance access to high-quality ACP for this population.

Authors’ Contributions

M.R.M. planned and coordinated the study. M.R.M., M.R.A., and R.N. were involved in abstract and full-text screening and data extraction. M.R.M. wrote the manuscript with iterative input and revisions from M.R.A., R.N., M.A.O., S.S.A., and S.K. Overarching structural guidance for the article was provided by R.N. and S.K. as co-senior authors.

Declaration of Generative AI and AI-Assisted Technologies in the Article Preparation Process

During the preparation of this work, the authors used ChatGPT in order to condense the word count for the abstract. AI was not used in any other sections of the article. After using this tool/service, the authors reviewed and edited the content as needed and take full responsibility for the content of the published article.