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First Conference of the Worldwide Initiative on Social Studies of Haemoglobinopathies

2011; Elsevier BV; Volume: 41; Issue: 6 Linguagem: Inglês

10.1016/j.amepre.2011.09.009

1873-2607

Simon Dyson,

Prenatal Screening and Diagnostics

A multidisciplinary conference of social science researchers working on sickle cell and thalassemia attracted 80 delegates from ten countries and included psychologists, sociologists, nurses, counselors, social policy analysts, health economists, public health experts, as well as members of sickle cell nongovernmental organizations (NGOs). The purpose of the conference, held at De Montfort University in the United Kingdom (U.K.) in April 2010, was to apply quantitative and qualitative social research methods to understand the experiences of people living with sickle cell disease (SCD) or thalassemia, the contextual factors that can affect their individual well-being, and the health, educational, legal, and social policies that affect them. In particular, emphasis was placed on understanding the influences of "race" (as a social construct), class, and poverty on outcomes among people with sickle cell disease or thalassemia. Social science perspectives complement public health approaches to blood disorders such as sickle cell disease and thalassemia.1Atrash H. Parker C.S. The public health response to blood disorders.Am J Prev Med. 2010; 38: S451-S455Abstract Full Text Full Text PDF PubMed Scopus (7) Google Scholar The public health framework identifies four areas of action: (1) improving surveillance and monitoring; (2) increasing public and provider awareness; (3) promoting the use of evidence-based practices; and (4) enhancing epidemiologic research on the causes, prevention, and treatment of conditions resulting in adverse outcomes. The distinctive contribution of social science research is its focus on social dynamics and context. Most research on outcomes and functioning among people with hemoglobinopathies is rooted in a medical model that emphasizes the organic nature of disease and its complications.2Swanson M.E. Grosse S.D. Kulkarni R. Disability among individuals with sickle cell disease: literature review from a public health perspective.Am J Prev Med. 2011; 41: S390-S397Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar In contrast, a social model of disease and disability emphasizes the dependence of outcomes on the social context, including environmental stressors such as stigmatization, poverty, and discrimination, and how individuals respond to their social environment, including self-identity and empowerment. The conference marked 100 years since the publication of the first documented case of what is now known as SCD.3Savitt T.L. Goldberg M.F. Herrick's 1910 case report of sickle cell anemia: the rest of the story.JAMA. 1989; 261: 266-271Crossref PubMed Scopus (68) Google Scholar Through the work of African scholars, it is known that African populations who endured "rainy-season rheumatism" effectively knew about sickle cell for centuries, and named their disease at the level of the whole person, using onomatopoeic terms reflecting the repetitive gnawing pains of the sickle cell crisis.4Konotey-Ahulu F.I.D. The sickle cell disease patient. Macmillan, London, UK1991Google Scholar In parts of West Africa, children with SCD were referred to as ogbanjes ("children who come and go") because of the very high levels of infant mortality and a belief that the dead children were reborn into the same families.5Ebrahim S.H. Khoja T.A.M. Elachola H. Atrash H.K. Memish Z. Johnson A. Children who come and go: the state of sickle cell disease in resource-poor countries.Am J Prev Med. 2010; 38: S568-S570Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar, 6Nzewi E. Malevolent Ogbanje: recurrent reincarnation or sickle cell disease?.Soc Sci Med. 2001; 52: 1403-1416Crossref PubMed Scopus (51) Google Scholar In the opening plenary, Kwaku Ohene-Frempong reiterated the case for SCD to have a high public health profile in Africa. SCD has had difficulty successfully competing for funds with diseases such as malaria, tuberculosis, or HIV/AIDS. Policymakers have classified SCD as a genetic disease. This has triggered connotations of SCD as: (1) being rare compared to infectious diseases, and (2) requiring expensive medical interventions that are presumed unaffordable in the context of less affluent economies. However, SCD is not rare in the African context, and although laboratory facilities with quality control are required, many aspects of newborn screening, such as community outreach nursing, are affordable. This means SCD should be considered as an important public health issue in Africa. Streptococcus pneumonia and other infections are the leading cause of death among African children with SCD, deaths that are preventable through newborn screening and penicillin prophylaxis and immunization.7Williams T. Uyoga S. Macharia A. et al.Bacteraemia in Kenyan children with sickle-cell anaemia: a retrospective cohort and case-control study.Lancet. 2009; 374: 1364-1370Abstract Full Text Full Text PDF PubMed Scopus (180) Google Scholar Historically, the rural death rate from SCD in the absence of medical interventions for those aged less than 5 years has been reported to be as high as 98%.8Fleming A.F. Storey J. Molineaux L. Iroko E.A. Attai E.D. Abnormal haemoglobins in the Sudan savanna of Nigeria, I: prevalence of haemoglobins and relationship between sickle cell trait, malaria, and survival.Ann Trop Med Parasit. 1979; 73: 161-172PubMed Google Scholar, 9Molineaux L. Fleming A.F. Cornille-Brogger R. Kagen I. Storey J. Abnormal hemoglobins in the Sudan savanna of Nigeria, III.Ann Trop Med Parasit. 1979; 73: 301-310PubMed Google Scholar In contrast, Ohene-Frempong cited a 95% survival rate among those aged less than 5 years successfully enrolled in the pilot newborn screening program in Ghana, greater still than a more recently cited 75% survival rate in Kenya where effective treatment for cerebral malaria was being practised.10Aidoo M. Terlouw D.J. Kolczak M.S. et al.Protective effects of the sickle cell gene against malaria morbidity and mortality.Lancet. 2002; 359: 1311-1312Abstract Full Text Full Text PDF PubMed Scopus (430) Google Scholar Once newborn screening for sickle cell becomes widely adopted in Africa,11Kafando E. Nacoulma E. Ouattara Y. et al.Neonatal haemoglobinopathy screening in Burkina Faso.J Clin Pathol. 2009; 62: 39-41Crossref PubMed Scopus (21) Google Scholar, 12Rahimy M.C. Gangbo A. Ahouignan G. Alihonou E. Newborn screening for sickle cell disease in the Republic of Benin.J Clin Pathol. 2009; 62: 46-48Crossref PubMed Scopus (84) Google Scholar, 13Tshilo L. Aissi L.M. Lukusa D. et al.Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31,204 newborns.J Clin Pathol. 2009; 62: 35-38Crossref PubMed Scopus (101) Google Scholar the numbers of young people identified or known to be living with SCD will be on a scale never before seen or imagined.14Dennis-Antwi J.A. Dyson S.M. Ohene-Frempong K. Healthcare provision for sickle cell disease in Ghana: challenges for the African context.Divers Health Soc Care. 2008; 5: 241-254Google Scholar Future social science research will then need to address the education and employment of the large numbers of Africans surviving with SCD. A second plenary speaker, Karl Atkin, argued that young people living with major hemoglobin disorders are very resilient in negotiating their lives, occasionally challenged by the symptoms but rarely engulfed by them. Their experience is not reducible to their condition, which is how they are often viewed by clinicians. They have much in common with other young people in multiethnic societies who experience racism, young people living with a chronic illness, or young people struggling to find a balance between parental monitoring and independence.15Atkin K. Ahmad W.I.U. Living a "normal" life: young people coping with thalassaemia major or sickle cell disorder.Soc Sci Med. 2001; 53: 615-626Crossref PubMed Scopus (112) Google Scholar Indeed, young people living with SCD or thalassemia are frequently caregivers within the family as well as care receivers.16Atkin K. Ahmad W.I.U. Anionwu E.N. Service support to families caring for a child with a sickle cell disorder or beta thalassaemia major: parents' perspectives.in: Ahmad W.I.U. Ethnicity, disability and chronic illness. Open University Press, Buckingham, UK2000Google Scholar This suggests that, in rightly making the case for conceptualizing blood disorders as issues for public health interventions, there is a need to consider that frames of references such as "health burdens" or "economic burdens" are ideas that may be contested by people living with SCD or thalassemia themselves. The final plenary speaker, Jemima Dennis-Antwi, spoke about Ghanaian fathers of children with SCD, where newborn screening had demonstrated widespread survival among children with SCD, thereby contradicting cultural myths. Parents of children with SCD might therefore refer to discourses of death surrounding SCD, but this did not mean they accepted such views. Their everyday caring for their child with SCD, sharing positive practical experience with other parents at support groups and finding ways in resource-limited contexts of arranging basic health care, represented an ongoing contradiction to the discourses of stigma and despair.17Dennis-Antwi J.A. Culley L.A. Hiles D.R. Dyson S.M. "I can die today, I can die tomorrow": lay perceptions of sickle cell disease in Kumasi, Ghana at a point of transition.Ethnic Health. 2011; 16: 465-481Crossref PubMed Scopus (33) Google Scholar On the other hand, where newborn screening was not taking place in sub-Saharan Africa, other presenters reported that there was low recognition of SCD in young children, an association of signs with supernatural causes, and high levels of distress in families searching for a "cure." A particular feature in one East African setting was the risk of stigmatization within families in a patrilineal community, with blame often focused on mothers of children with SCD. This suggests that health education of parents of SCD newborns identified by screening, and monies to facilitate self-help groups for such parents, will be vital public health adjuncts to the implementation of newborn screening in Africa. In North America and Europe, people living with SCD are often from communities who experience racism, and several presenters acknowledged that racism is a major contributor to disparities in health for people with SCD, both through reduced economic opportunities and through inequities in the delivery of health care. The potential of research to change healthcare practice was illustrated by a team who produced a short educational documentary for health professionals, which reduced stereotyping of SCD patients by healthcare providers, diminishing the likelihood that people with SCD were characterized in racist ways as drug-seeking, manipulative, or likely to exaggerate pain. Thus, the degree of trust and respect, and mutual perceptions, all mediate the relationship between healthcare providers and people living with SCD. The conference also discussed the ongoing misrepresentation of sickle cell trait in the media, where sickle cell is often wrongly portrayed as exclusive to the African-American community, and how negative connotations, which those with racist world views attach to African Americans, become in turn attached to SCD patients. Implications for public health are that: (1) educating journalists should be considered an important part of public health strategies on sickle cell; (2) that there are other emerging populations in the U.S., as well as African Americans, who are at higher risk of SCD; and (3) that challenging wider racism is an integral part of public health interventions on sickle cell. Sometimes the negative experiences of accessing health care may be inappropriately blamed on the culture of the service user. But some communities who experience racism may also show considerable resilience: African Americans who scored highly in terms of identifying with their African-American racial identity were reported to be more likely to be psychologically resilient with respect to their SCD and employ healthier coping behaviors. The alleged culture of particular communities is sometimes linked to a perceived unwillingness to access novel treatments, but any difference in orientation to new technologies between different ethnic groups is frequently overplayed. Researchers examined the social, clinical, and economic contexts that inform how parents and patients view the conception of donor siblings to treat a child with SCD. The financial cost and ethical dilemmas associated with this application of reproductive technologies were identified as barriers, as were the procedure risks of hematopoietic cell transplantation. Nonetheless, an over-riding finding for all ethnic groups was respondents' desire to be kept informed of the whole range of new technological options. Thus, to the extent that any cultural orientation to use of health services exists, it must be borne in mind that culture is itself formed in the context of racism, socioeconomic disadvantage, and historical experience. Social science research also concerns how theoretical insights can help us make sense of social situations. For example, researchers adapted van Gennep's classic anthropologic concept of rites of passage.18Van Gennep A. The rites of passage. University of Chicago Press, Chicago IL1961Crossref Google Scholar This involves three stages of: (1) separation from previous social status (such as pediatric patient); (2) liminality, the indeterminate "twilight" period between stable social statuses (such as transitioning between pediatric and adult care); and (3) re-assimilation (such as establishing a secure identity as an adult sickle cell patient). In health systems where entitlements to finances to support treatment ends after childhood, young adults with SCD may permanently occupy a status of liminality where they never achieve a secure status as a healthy adult living with SCD. A further example is the U.S. sociologist Eliot Freidson's concept of the lay referral network.19Freidson E. Profession of medicine: a study in the sociology of applied knowledge. University of Chicago Press, Chicago IL1970Google Scholar This helps researchers to better understand how genetic information (conveying sickle cell trait status to parents of newborns in the UK) like all health information, is never apprehended by an individual in isolation: it is routinely discussed and made sense of in networks of family, friends, work colleagues, and neighbors. The import of this is that the difference between genetic information and all public health information has perhaps been overstated. The relative paucity of social research conducted on thalassemia compared to sickle cell is perhaps a reflection of the intense reliance of those living with thalassemia on biomedical treatment. It is also a reflection of the tendency, in less well-resourced countries, or countries where projected births are perceived as having the potential to overwhelm health service provision, to focus on carrier screening (with premarital counseling or prenatal diagnosis to prevent births) as opposed to newborn screening to save and improve lives. For thalassemia, it is perhaps only when blood safety and biomedical treatments are secure that concepts discussed at the conference, such as the social model of disability,20Oliver M. Understanding disability: from theory to practice.2nd ed. Palgrave Macmillan, Basingstoke, UK2009Crossref Google Scholar which seeks to refocus on social arrangements as the cause of problems rather than on any shortcomings of individuals, can be fully explored with respect to thalassemia. Researchers gave a series of presentations based on a research project on sickle cell in schools in the U.K. Children living with SCD miss considerable amounts of schooling but report not being helped by teachers to catch up with missed schooling.21Dyson S.M. Abuateya H. Atkin K. Culley L.A. Dyson S.E. Rowley D.T. Reported school experiences of young people living with sickle cell disorder in England.Brit Educ Res J. 2010; 36: 125-142Crossref Scopus (19) Google Scholar They are generally ambivalent about telling school staff and school peers their sickle cell status; with good reason, as disclosure was not associated with any decrease in reported negative experiences, such as being denied water or being called lazy when tired.22Dyson S.M. Atkin K. Culley L.A. Dyson S.E. Evans H. Rowley D.T. Disclosure and sickle cell disorder: a mixed methods study of the young person with sickle cell at school.Soc Sci Med. 2010; 70: 2036-2044Crossref PubMed Scopus (33) Google Scholar The realms of the medical clinic, in which children are encouraged to be open about their disease, and the school, can make opposing demands on young people with SCD.23Dyson S.M. Atkin K. Culley L.A. Dyson S.E. Evans H. Sickle cell, habitual dyspositions and fragile dispositions: young people with sickle cell at school.Sociol Health Ill. 2011; 33: 465-483Crossref PubMed Scopus (22) Google Scholar More work is needed to identify how environmental triggers of episodes of sickle cell–related illness can be prevented or minimized to reduce healthcare use and, more importantly, improve functioning and outcomes. Data on medical expenditures incurred by children with SCD24Amendah D.D. Mvundra M. Kavanagh P.L. Sprinz P.G. Grosse S.D. Sickle cell disease-related pediatric medical expenditures in the U.S..Am J Prev Med. 2010; 38: S550-S556Abstract Full Text Full Text PDF PubMed Scopus (65) Google Scholar and on health status of children with SCD25Boulet S.L. Yanni E.A. Creary M.S. Olney R.S. Health status and healthcare use in a national sample of children with sickle cell disease.Am J Prev Med. 2010; 38: S528-S535Abstract Full Text Full Text PDF PubMed Scopus (60) Google Scholar demonstrate the need for creative interventions in order to realize the benefits of a preventive public health approach to hemoglobin disorders. Health promotion and disease prevention should not be restricted to health sector interventions. Following the conference, the organization WISSH (Worldwide Initiative on Social Study of Haemoglobinopathies) was formed to promote the exchange of views, methods, and findings among social researchers working on SCD or thalassemia. WISSH plans to establish links with the Global Sickle Cell Disease Network26Odame I. Developing a global agenda for sickle cell disease.Am J Prev Med. 2010; 38: S571-S575Abstract Full Text Full Text PDF PubMed Scopus (34) Google Scholar and the Thalassaemia International Federation. The aim is not only to convince sickle cell and thalassemia global communities of interest of the importance of social research to the endeavor of improving the lives of those with SCD or thalassemia, but also to encourage young social researchers to engage in an ongoing way with sickle cell and thalassemia as research issues. A second WISSH conference has been convened in conjunction with the CDC's National Conference on Blood Disorders in Public Health and the conference of the Global Sickle Cell Disease Network, conferences to be held March 12–16, 2012, in Atlanta, Georgia. The work of Sarah Allen of External Relations, De Montfort University in facilitating this conference is gratefully acknowledged. Simon M. Dyson acknowledges the UK's Economic and Social Science Research Council Grant Number RES-000-23-1486. The conference organizers acknowledge the receipt of an unrestricted educational grant from Novartis Oncology that enabled UK NGOs to attend the conference. Publication of this article was supported by the Centers for Disease Control and Prevention through a Cooperative Agreement with the Association for Prevention Teaching and Research award # 09-NCBDDD-01. No financial disclosures were reported by the author of this paper.