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Thalassaemia is one of the commonest inherited genetic disorders world-wide with around 25,000 births of the most severely affected transfusion dependent children annually. Patients with transfusion dependent thalassaemia require regular blood transfusions to maintain life but because of this will develop iron overload. To remove the excess iron, patients are required to take iron chelation therapy (ICT). ICT requires lifelong adherence to treatment to prevent end organ damage from developing. Many of these preventable complications make adherence to therapy more complex for patients. In this review, we focus on two commonly encountered patient scenarios and discuss how different psychological models and a relational theory can be used to understand and support adherence to treatment. [ABSTRACT FROM AUTHOR]

Purpose: Sickle cell disease (SCD) is an inherited blood disorder characterized by unpredictable episodes of acute pain and numerous health complications. Individuals with SCD often face stigma from the public, including perceptions that they are lazy or weak tending to exaggerate their pain crisis, which can profoundly impact their quality of life (QoL). Methods: In a qualitative phenomenological study conducted in Cameroon, Ghana, and Tanzania, we explored stakeholders' perceptions of SCD-related stigma using three analytical frameworks: Bronfenbrenner's Ecological Systems Theory; The Health Stigma and Discriminatory Framework; and A Public Health Framework for Reducing Stigma. Results: The study reveals that SCD-related stigma is marked by prejudice, negative labelling and social discrimination, with derogatory terms such as sickler, ogbanje (one who comes and goes), sika besa (money will finish), ene mewu (I can die today, I can die tomorrow), vampire (one who consumes human blood), and Efiewura (landlord-of the hospital), commonly used to refer to individuals living with SCD. Drivers of stigma include frequent crises and hospitalizations, distinct physical features of individuals living with SCD, cultural misconceptions about SCD and its association with early mortality. Proposed strategies for mitigating stigma include public health education campaigns about SCD, integrating SCD into school curricula, healthcare worker training and community engagement. Conclusion: The results highlight the importance of challenging stigmatizing narratives on SCD and recognizing that stigmatization represents a social injustice that significantly diminishes the QoL of individuals living with SCD. [ABSTRACT FROM AUTHOR]

Summary: Ageing in sickle cell disease (SCD) is associated with a myriad of end‐organ complications, including cerebrovascular damage and cognitive impairment (CI). Although CI is very common in SCD, little is known about cognitive functioning and how it changes with age. This study examines cognitive patterns of 63 adults with SCD and 60 non‐SCD, age‐ and education‐matched controls in Ghana. Of those adults with SCD, 34 completed the neuropsychological battery at baseline and again seven years later. In cross‐sectional data, adults with SCD performed worse than controls in all cognitive test domains (p < 0.01 for all). The seven‐year follow‐up data showed that the group exhibited a significant decline in visuospatial abilities (ranging from Cohen's d = 1.40 to 2.38), and to a lesser extent, in processing speed and executive functioning. Exploratory analyses showed a significant time‐by‐education interaction, indicating that education may be protective from decline in cognitive performance. These findings have implications for clinical practice. Early neuropsychological surveillance coupled with early assessment and remedial programmes will provide avenues for enhancing the quality of life of adults living with SCD in Ghana. [ABSTRACT FROM AUTHOR]

Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. Over 300,000 newborns are diagnosed with SCD each year globally, with an increasing trend. The sickle cell disease ontology (SCDO) is the most comprehensive multidisciplinary SCD knowledge portal. The SCDO was collaboratively developed by the SCDO working group, which includes experts in SCD and data standards from across the globe. This expert review presents highlights and lessons learned from the fourth SCDO workshop that marked the beginning of applications toward planetary health impact, and with an eye to empower and cultivate multisite SCD collaborative research. The workshop was organized by the Sickle Africa Data Coordinating Center (SADaCC) and attended by 44 participants from 14 countries, with 2 participants connecting remotely. Notably, from the standpoint of democratizing and innovating scientific meeting design, an SCD patient advocate also presented at the workshop, giving a broader real-life perspective on patients' aspirations, needs, and challenges. A major component of the workshop was new approaches to harness SCDO to harmonize data elements used by different studies. This was facilitated by a web-based platform onto which participants uploaded data elements from previous or ongoing SCD-relevant research studies before the workshop, making multisite collaborative research studies based on existing SCD data possible, including multisite cohort, SCD global clinical trials, and SCD community engagement approaches. Trainees presented proposals for systematic literature reviews in key SCD research areas. This expert review emphasizes potential and prospects of SCDO-enabled data standards and harmonization to facilitate large-scale global SCD collaborative initiatives. As the fields of public and global health continue to broaden toward planetary health, the SCDO is well poised to play a prominent role to decipher SCD pathophysiology further, and co-design diagnostics and therapeutics innovation in the field. [ABSTRACT FROM AUTHOR]

Background: It is customarily perceived that in Africa, decisions around research participation may be based not only on individual reflection but also on discussions with others. Some authors have argued that such decision making is reflective of a more traditional communitarian African worldview; one critique of such a perspective is that it is lacking an empirical grounding. In this study, we explore decision making around enrollment in sickle cell genomics research in three countries in Africa, namely, Ghana, Cameroon, and Tanzania. Particularly, we focus on exploring the role of shared decision making with regard to participating in genomic studies. Results: We involved 64 participants in 15 individual interviews or in 49 focus-group discussions with research participants in rural and urban Tanzania (n = 20), Ghana (n = 30), and Cameroon (n = 14). We used a vignette to explore decision making around enrollment of children in sickle cell genomics research. Data were imported in NVivo11 and analyzed using thematic content analysis. Our findings indicate that the majority of the participants from both rural and urban settings prefer to make their own individual decisions and not consult with extended family or community leaders. Shared decision making was only considered necessary for individuals who were perceived to be in some way vulnerable. Conclusion: We found very limited support for shared decision making as the primary process for decision making about research participation. While consultation was considered important to support individual decision making, particularly when parents were perceived as vulnerable, there was no suggestion in our data that shared decision making would be a more important or valuable means of seeking consent for research participation in the African research context. [ABSTRACT FROM AUTHOR]