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.

Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD. This qualitative study explored perceptions towards genetic testing for SCD and SCT in Cameroon, Ghana, and Tanzania. The results show a general preference for newborn screening for SCD over prenatal and premarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization. Premarital testing for SCT was perceived to be of low public health value, as couples are unlikely to alter their marriage plans despite being aware of their risk of having a child with SCD. Adolescents were identified as a more suitable population for SCT testing. In the case of prenatal testing, major concerns were centred on cultural, religious, and personal values on pregnancy termination. The study revealed a gender dimension to SCD/SCT testing. Participants mentionned that women bear a heightened burden of decision making in SCD/SCT testing, face a higher risk of rejection by potential in-laws/partners if the carriers of SCT, as well as the possibility of  divorce if they have a child with SCD. The study highlights the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCD and emphasises the need for public education on SCD and the necessity of incorporating genetic and psychosocial counselling into SCD/SCT testing programs.

The enrolment of children and adolescents in health research requires that attention to be paid to specific assent and consent requirements such as the age range for seeking assent; conditions for parental consent (and waivers); the age group required to provide written assent; content of assent forms; if separate assent and parental consent forms should be used, consent from emancipated young adults; reconsent at the age of adulthood when a waiver of assent requirements may be appropriate and the conditions for waiving assent requirements. There is however very little available information for researchers and ethics committees on how to navigate these different issues. To provide guidance to research initiatives, the SickleInAfrica consortium conducted a thematic analysis of a sample of research ethics guidelines and procedures in African countries, to identify guidance for assent requirements in health research. The thematic analysis revealed that 12 of 24 African countries specified the age group for which assent is required. The minimum age for written assent varied across the countries. Five countries, Algeria, Botswana, Cameroon, Nigeria and The Democratic Republic of Congo require consent from both parents/family council in certain circumstances. Botswana, Nigeria, South Africa and Uganda have specific assent/consent requirements for research with emancipated minors. South Africa and Algeria requires re-consent at onset of adulthood. Five countries (Botswana, Cameroon, Nigeria, South Africa and Tanzania) specified conditions for waiving assent requirements. The CIOMS and the ICH-GCP guidelines had the most comprehensive information on assent requirements compared to other international guidelines. An interactive map with assent requirements for different African countries is provided. The results show a major gap in national regulations for the inclusion of minors in health research. The SickleInAfrica experience in setting up a multi-country SCD registry in Africa highlights the need for developing and harmonising national and international guidelines on assent and consent requirements for research involving minors. Harmonisation of assent requirements will help facilitate collaborative research across countries.

Sickle cell disease (SCD) is one of the most prevalent genetic conditions in sub-Saharan Africa. It is a chronic, lifelong disease often characterized by severe pain. However, SCD has received little investment terms of health research, though there is currently a growing pool of SCD data from health and research facilities in different countries. To facilitate research on SCD in Africa, the SickleInAfrica consortium has established a SickleInAfrica registry. The registry will store a systematic collection of longitudinal data from persons with SCD across sub-Saharan Africa, and currently, participants are being enrolled in Ghana, Nigeria, and Tanzania. In establishing this registry, the SickleInAfrica consortium decided to actively identify and anticipate possible ethical issues that may arise in the development and management of the registry. This was motivated, in part, by the near absence of well documented ethical issues for registry research in Africa, more-so for registries enrolling participants across multiple countries and for a genetic condition. The consortium aims to establish standards for the equitable use of data stored in the registry. This paper presents a comprehensive report on the ethical considerations that came up in setting up a genetic disease registry across multiple African countries and how they were addressed by the SickleInAfrica consortium. Major issues included: active involvement of patients in the initiation and management of the registry; questions of assent and re-consent; the importance of ensuring that fears of exploitation are not replicated in African-African research collaborations; and the importance of public engagement in the management of registries. Drawing on this experience, SickleInAfrica plans to set up an ethics helpdesk for genetic disease registries and research in Africa.