Genetics and Global Public Health

Sickle Cell and Thalassaemia

Simon Dyson, Karl Atkin

• Publisher: Taylor & Francis
• Year: 2014
• Print ISBN: 9781138111189
• eBook ISBN: 9781317977414
• Edition: 1
• Topic: Medicine
• Subtopic: Health Care Delivery

Sickle cell and thalassaemia are among the world's most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives.

Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health.

This book was originally published as a special issue of the journal Ethnicity and Health.

Sickle cell and thalassaemia: global public health issues come of age

Simon M. Dyson and Karl Atkin

It is with great pleasure that, as guest and current editor respectively, we introduce Ethnicity and Health’s collection on the haemoglobin disorders sickle cell and thalassaemia. Sickle cell and thalassaemia are among the world’s leading genetic conditions with over 5 per cent of the world’s population carrying clinically significant haemoglobin gene variants (Modell and Darlison 2008). In the UK, from where we write, services have been slow to recognize that sickle cell is now its most common genetic condition. Indeed in multi-ethnic countries of the North provision of health and social services for people living with sickle cell or thalassaemia have been marginalized (Anionwu and Atkin 2001). In the US, authors such as Tapper (1999) and Wailoo (2001) have shown that the processes by which sickle cell has acquired its connotation as a ‘Black’ disorder are above all social processes. Meanwhile up to 400,000 babies are born worldwide each year with sickle cell/thalassaemia and many die before their fifth birthday; just one of several indicators that marks sickle cell and thalassaemia out as global public health issues (Weatherall and Clegg 2001).

The issues of sickle cell and thalassaemia are therefore central to the concerns of scholars researching issues around ethnicity and health. They are central both in respect of falling disproportionately onto the minority ethnic groups of Europe and North America and, internationally, by disproportionately affecting the global majority populations of Africa, Asia, Brazil and the Caribbean. They are also central because of the paradox that sickle cell and thalassaemia represent. On the one hand, sickle cell and thalassaemia illustrate humankind’s historical-global genetic connectedness, not least in illustrating the limits of thinking in terms of distinct biological ‘races’. On the other hand they illustrate the social policy imperative that the health and welfare services provision need to diversify and become more culturally competent in meeting the needs of the established and the emerging populations in multi-ethnic societies (Dyson 2009). All this requires more sophisticated understandings of ethnic diversity; methodological innovation, in combining the meaning of longstanding conditions within broader debates about multi-culturalism and disadvantage; and a commitment to using research-generated insights to improve policy practice.

The Unit for the Social Study of Thalassaemia and Sickle Cell at De Montfort University, Leicester, UK convened an international conference in April 2010 to mark the 100^th anniversary of the publication of the first Western academic paper on sickle cell by James Herrick in 1910 (Herrick 1910). This was not the first case study of sickle cell anaemia, nor even the first known case, since Africans had known about ‘rainy-season rheumatism’, which ran in families, for centuries before the ‘discovery’ by Western medicine (Konotey-Ahulu 1991). Thus Herrick (or more accurately his intern Irons) only ‘discovered’ sickle cell in the same way that Columbus ‘discovered’ America.

This first scientific article can, therefore, be better understood in a social historical context and this is further demonstrated, when considering the case study in a little more detail. The first person identified as having sickle cell anaemia, Walter Clement Noel, was from a wealthy Grenadian plantation – owning family, and was being professionally educated in dentistry in Chicago at the time his blood examination revealed sickled cells under the microscope. Northern US medical schools were, at the time, beginning to take black students in response to the growing demand for black physicians. This demand had been created by the ongoing refusal of white Southern physicians to treat African-Americans unless they were paid substantial fees (Savitt and Goldberg 1989). The interest in Noel’s case was provoked as much by the novel context for a black person in the US, as it was by the sickle cell. Thus when the second case was identified in Ellen Anthony, a poor, uneducated Southern African-American woman, it received little attention (Savitt 1997). In this way sickle cell was positioned within particular discourses–discourses to do with socio–economic status and regionalism, as well as discourses of ethnicity and racism -from the very outset of its appearance in medical texts.

The De Montfort University conference sought to build on social scientific research undertaken on haemoglobin disorders, reflecting a concern over the relative lack of social research into sickle cell and thalassaemia compared to clinical studies (Abuateya et al. 2008). Social policy and sociological research suggests that young people living with sickle cell disorder (SCD) or thalassaemia show themselves to be extremely resilient in negotiating their lives. Sometimes they face considerable challenges from their symptoms or from negative reactions of others, but they rarely permit themselves to be completely overwhelmed by such challenges. Importantly their life experience is not determined by the clinical nature of their haemoglobin disorder, which is sometimes the perception of their clinicians. The broader context that influences the lives of others within multi-ethnic societies – the respective challenges of racism, living with a chronic illness and negotiating between the extremes of parental monitoring and independence – are also central to the lives of those living with SCD or thalassaemia (Atkin and Ahmad 2001). Furthermore, young people living with SCD or thalassemia are frequently caregivers within the family as well as recipients of care and as adults may contribute substantial taxes as well as being consumers of health resources (Atkin et al. 2000).

Social insights are also been embraced, outside income – rich countries, to explore how the social experience of illness and the development of screening programmes might raise different challenges to those people living in Australasia, Europe and North America. Sickle cell and thalassaemia exist alongside a series of life – threatening concerns, such as HIV-related illnesses, malaria, respiratory tract, gastro-intestinal and parasitological infections. Healthcare systems are desperately short of resources and often hampered by covering large geographical areas, with poor infrastructure (see Tshilolo et al. 2008). Similar themes to the West, however, do emerge. Quality of life for those with the conditions and their families, when compared with the general population, is shown to be worse (Tunde-Ayinmode, 2007). Life expectancy, although rising, is beginning to show a widening gap between income – rich and less well developed countries.

Following the call for social research papers on sickle cell and thalassaemia, the conference, entitled Sickle Cell: The Next 100 Years in anticipation of a coming century, focused as much on social as clinical research, received abstracts from such disciplines as social medicine, nursing, sociology, social policy, anthropology, health economics, community genetics, health services research and psychology. The majority of the contributions to this collection began life as an abstract submitted to that conference. Their themes reflect a broadly social scientific but multi-disciplinary orientation to research. The geographical spread of contributors, whilst reflecting the English language medium of conference proceedings and the relative wealth of different national academies, nonetheless included contributions from across the globe. This collection also demonstrates the broad range of issues associated with sickle cell and thalassaemia, while also illustrating the importance of using insights gained from the mainstream literature to improve our understanding of sickle cell and thalassaemia. This is likely to be an ongoing challenge.

Introducing the contributions

One of the aims of scholarship around the relationship between ethnicity and health should be to deal with practice and policy in a thoughtful and critical way. For example, in an insightful anthropological piece based on extensive ethnographic fieldwork in the USA, Carolyn Rouse questions the uncritical manner in which the transition of children and young people with sickle cell disorders between paediatric and adult care has previously been discussed. It could be argued that the problem of transition is itself an artefact of the medical division of labour between paediatrics and adult specialities and says as much about the power of medicine to frame our life experiences as it does about the troubles of youth. Rouse draws our attention to the anomaly (some might say ideology) inherent in transition debates, namely that calls for ‘partnership’ are disingenuous if the differences in social power between provider (affluent, with extensive formal education, and often the beneficiary of the huge unacknowledged symbolic resource that is ‘whiteness’) and service user (frequently living in relative poverty, less formally educated, always vulnerable to racism in wider society and sometimes to racism in professional – client encounters) are not challenged. Rouse thoughtfully provides the reader with constructive suggestions about how notions of transition might be broadened beyond teaching medical compliance, to consider what the conditions of shared decision-making might be.

Although the focus of social research into sickle cell and thalassaemia is often on ethnicity and culture, we must be mindful of intersectionality, and that ethnicity is but one of several axes of differentiation around which health experiences may be structured. Previous sociological research has suggested that care-giving to young people with sickle cell disorder is gendered: girls are expected by their mothers to be ‘valiant’ and get on with life, whereas boys are accorded a special status of being eternally ‘vulnerable’ (Hill and Zimmerman 1995). Three contributors to this special collection focus on gender as well as ethnicity. A sociologist from the UK, Kate Reed, draws our attention to the manner in which, as the work of Rothman (1994) has contended, screening traditionally places mothers rather than fathers at the centre of moral dilemmas that are not of their choice or making. Reed’s work begins to redress the imbalance in what we know about fathers and their attitudes and roles to sickle cell and thalassaemia ante-natal screening. Reed reminds us that sexual and ethnic categories often co-notate one another. In her small sample, minority ethnic men display a commitment to involvement in the screening process at odds with stereotypes of either the absent or over-dominant father. However, the role of fathers, both ethnic minority and ethnic majority, within screening within multi-ethnic societies is an area for further study.

In a contribution from an East African social and behavioural science group, Marsh, Kamuya and Molyneux consider the impact of gender after the birth of the infant with sickle cell disorder. Once again the insight lies in the contextual description of the setting and acknowledging this is especially important, as much of the literature is dominated by North American and European perspectives, which might not easily translate to other contexts. This context comprises a patrilineal society in coastal Kenya which has seen the development of some treatment services, but no newborn screening programme with prophylactic treatment. This leaves mothers of children with sickle cell disorder facing considerable challenges. In reading the description of these experiences, one is reminded that there is more similarity between professional and lay ways of thinking than professionals may care to acknowledge.

The classic problem with Sir Karl Popper’s falsification principle (that a scientific statement is one that, in principle, can be shown to be false: ‘all swans are white’) is that it is undermined by the actual behaviour of scientific communities (that a black swan is not seen as evidence falsifying the initial statement because it is conceptualized as another type of bird entirely). It was therefore interesting to note that when confronted with the evidence that their child has sickle cell disorder, that the mother is a carrier and that both mother and father must be carriers for there to be a chance of having a child with SCD, the Kenyan men behave as quasi-scientific communities and take this as evidence, not of their own carrier status, but that the mother must have had a sexual relationship outside their marriage. It is also instructive that, in reflecting on policy implications, Marsh et al. refer to successful policy-making in challenging stigma in a parallel instance: that of stigma against those living with HIV in Africa. This evidence, were it transferable to challenging stigma around SCD in Africa, suggests that neither promoting individual self-esteem, nor encouraging non-discriminatory behaviour among community members (say among the Kenyan fathers) are effective ways of challenging stigma. Instead what seems to work is to mobilize those living with the condition into groups, as people working in groups find mutual strength in defining and solving the challenges they face, and to provide strong legislative and policy frameworks to challenge discrimination and to support those living with the condition. Such enabling policy frameworks are beginning to be suggested at an institutional level, for example in schools in order to best support pupils with SCD (Dyson et al. 2010).

The gendered nature of the focus of screening policies – the almost exclusive focus on individual mothers rather than on kinship networks within which the mother is situated – is the starting point for the psychology and primary care medicine collaboration by Ulph, Cullinan, Qureshi and Kai. Individual actors in the UK screening process are not only influenced by family members, but genetic knowledge becomes a resource that may or may not be shared and may be used for non-medical purposes in the particular dynamics of family networks. We would further note that this phenomenon is not restricted to Europe or North America. For example, we especially like the account of the young man in Iran who wished to avoid a marriage match he did not want, and who consequently asked the screening programme to convey a positive carrier result to him that would help him achieve his aim (Ghanei et al. 1997). Ulph et al. rightly point out though that we do not yet know enough about how these dynamics play out in differing contexts, and their effects on the use people make of screening for sickle cell or thalassaemia.

As editors we also asked our contributors to present material in a way that considers theoretical issues in how we understand ethnicity, in addition to implications for policy and practice, given the contested nature of ‘ethnicity’ and ‘health’. In this vein, the review by Hinton, Grant and Grosse from the Centers for Disease Control and Prevention in the USA rightly problematizes the relationships between race, ethnicity, ancestry and risk of carrying genes associated with sickle cell or thalassaemia, particularly with regard to health economics debates about targeting either newborn or prenatal screening. Their synthesis demonstrates awareness not only of how terms like ‘race’ are used differently on different sides of the Atlantic, but how concepts such as ancestry hold within them the potential to encapsulate different signifiers of genetics and territory. They show how debates about targeting screening play out differently in the contexts of newborn as opposed to prenatal sickle cell screening, and how concerns for equity between socially defined ethnic groups as well as efficiency inform policy decisions about universal or targeted haemoglobinopathy screening.

A different problematizing of race/ethnicity concepts is contained in Royal, Jonassaint, Jonassaint and De Castro. Although the American Anthropological Association (1998) eschew the term race, the American Sociological Association (2003) continues to subscribe to its usage on the grounds that people use such terms and that social scientists should remain engaged with this usage. However, as Carter (2007) argues, this means being cognisant that one is studying people’s usage of the concept ‘race’; not that one is studying race. What is fascinating about this account from the USA is that where people have been so discriminated against, their ‘racial’ (in UK terminology probably ‘racialized’) ascription becomes not only a resource for identity formation, but a resource that has apparent real effects in reducing felt symptoms and in influencing health care utilization. This opens up a broader arena for research: to what extent can ethnicity, which would struggle to qualify as an objective social relationship (see Carter and Fenton 2009) act on imagination such as to produce real health effects?

A further consideration of racism and ethnicity is implicit in the UK – US psychology team of Elander, Beach and Haywood. Their contribution concerns the notion of culture, and the controversial issue of pain in sickle cell disorders. Smith et al. (2008) suggest that 29% of people living with SCD report sickle cell pain nearly every day; 54% report pain on more than half of the days; and only 14% of people with SCD rarely experience pain. A substantial minority of sickle cell disease patients are high utilizers of emergency departments. However, high utilizers of emergency departments owing to sickle cell disease are more severely ill as measured by laboratory variables, have more pain, more distress, and have a lower quality of life compared with lower users of emergency departments (Aisiku et al. 2008). This forms part of a wider picture in which opiates are given to African-American hospital patients for pain at significantly lower rates than they are given to white patients (Pletcher et al. 2008). Taken together such studies suggest that any characterization of African-Americans as having lower pain thresholds and of people with SCD as exhibiting drug-seeking behaviours are socially constructed rather than biologically given. Early anthropological insights into how different structures of communities led to different healthcare-consultation behaviour for pain (Zborowski 1952) has become degraded into the caricature that, allegedly, different ‘cultures’ have different pain thresholds. The comparative psychological study by Elander et al. in this issue suggests that the extent to which trust may or may not be engendered between service providers and people living with sickle cell disorders may be one of the keys to understanding why sickle cell pain is such a contested site, rife with accusation and counter-accusations. They call for, and propose an initial draft of, a model t...

Table of contents

• Cover
• Half Title
• Title Page
• Copyright Page
• Table of Contents
• 1. Sickle cell and thalassaemia: global public health issues come of age
• 2. Informing choice or teaching submission to medical authority: a case study of adolescent transitioning for sickle cell patients
• 3. ‘He’s the dad isn’t he?’ Gender, race and the politics of prenatal screening
• 4. ‘All her children are born that way’: gendered experiences of stigma in families affected by sickle cell disorder in rural Kenya
• 5. Familial influences on antenatal and newborn haemoglobinopathy screening
• 6. Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening
• 7. Living with sickle cell disease: traversing ‘race’ and identity
• 8. Respect, trust, and the management of sickle cell disease pain in hospital: comparative analysis of concern-raising behaviors, preliminary model, and agenda for international collaborative research to inform practice
• 9. Race and social attitudes about sickle cell disease
• 10. Barriers to conceiving sibling donors for sickle cell disease: perspectives from patients and parents
• 11. Organized ambivalence: when sickle cell disease and stem cell research converge
• 12. ‘I can die today, I can die tomorrow’: lay perceptions of sickle cell disease in Kumasi, Ghana at a point of transition
• 13. Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers
• 14. Sickle cell and thalassaemia: why social science is critical to improving care and service support
• Index