'Only parents can understand the problems and needs of children with thalassaemia': parental activism for thalassaemia care in Northern India.

Evolving knowledge of genetics and improved clinical care have re-shaped life choices for those suffering from chronic, incurable conditions and their families. Yet the realisation of care requires complex navigation to access vital therapies which is often difficult for individuals or their family carers. In the article, we explore the struggles and strategies of parents of children with thalassemia (a genetically inherited blood disorder) in a North Indian city, who have come together to ensure better long-term health of their children. A focus on the ways in which families come together and remain apart in their quest for guaranteed access to life-saving substances such as filtered blood, provides insight into the diversity of bio-social strategies at work. It is not only family relationships and kinship, we suggest, but bio-sociality itself which is reshaped with the advent of new rights-based languages, evolving therapies and state support which hold out new possibilities for young people with thalassemia to live as normal a life-course as possible.

Inherited blood disorders, genetic risk and global public health: framing 'birth defects' as preventable in India.

This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment. I argue that the re-classification of inherited blood disorders (IBDs) under 'prevention and management of birth defects' by the WHO in 2010 can be read as an ethical moment within the 'globalising turn' of IBDs and the use of genomics in addressing structural inequalities underpinning health in low- and middle-income countries. Using an Indian case study, the paper aims at first examining the language of risk through which genes and IBDs are mapped onto pre-existing populations (e.g. caste and tribe) as discrete, categories. Second, it discusses the likely social and ethical ramifications of classifying these recessive gene disorders as essentially preventable, despite cheaply available diagnostic tests and treatment options available in most countries in the South.

A social profile of deaths related to sickle cell disease in India: a case for an ethical policy response.

India accounts for 14.5 percent of the global SCD newborns, roughly over 42,000 a year, second to sub-Saharan Africa. Despite the availability of cheap diagnostic and treatment options, SCD remains a largely neglected disease within healthcare policy and practice. Epidemiological modeling based on small, often dated, regional studies (largely from sub-Saharan Africa) estimate that between 50 and 90 percent of affected children will/die before the age of 5 years. This premise, coupled with targets of reducing under 5 mortality (SDG 4), privileges public health interventions for screening and prevention of new births, undermining investments in long-term health and social care. This paper presents a retrospective, descriptive analysis of the socio-demographic profile of 447 patients diagnosed with sickle cell or sickle-beta thalassemia, who died following admission at a tertiary care entre in India. We used anonymized hospital records of 3,778 sickle cell patients, admitted in pediatric and adult/medical wards between January 2016 and February 2021. A majority of hospital deaths occurred in the second and third decades of life, following a hospital admission for a week. The overall mortality during 2016-2019 was 14% with little gender difference over time. Contrary to our expectations, the number of hospital deaths did not increase during the first year of the COVID-19 pandemic, between 2020 and 2021. The conclusion highlights the importance of longitudinal, socio-demo-graphic data on deaths as providing important insights for identifying ethical policy interventions focused on improving SCD outcomes over time, reducing inequities in access to care, and preventing what might be considered "excess" deaths.

Translation of the Social Difficulties Inventory (SDI-21) into three South Asian languages and preliminary evaluation of SDI-21(Urdu).

PURPOSE: In the United Kingdom, cross-cultural adaptation of questionnaires would allow for inclusivity in assessment in cancer clinics for non-English speakers. The aim was to translate the Social Difficulties Inventory (SDI-21) into Urdu, Punjabi and Hindi and undertake preliminary evaluation of translated versions. METHODS: The study comprised three stages: (1) translation/back translation and evaluation of cultural equivalence of the SDI-21, (2) south Asian (SA) patient evaluation of SDI-21 translations and (3) evaluation using Rasch analysis comparing English and Urdu SDI-21 from data pooled from this and three other studies. RESULTS: Forward/backward translation resulted in minor amendments particularly in forward translation of SDI-21(Hindi). The majority of the 55 patients interviewed found the SDI-21 acceptable and clear, resulting in no amendments (all versions). Rasch analysis demonstrated good fit. Differential item functioning (DIF) was found for one item, in the comparison of white English (WE)- and SA Urdu-speaking groups. Detailed DIF analysis comparing self-completion and read-aloud administration by language group demonstrated this DIF only held for the comparison between SA English speakers (self-completion) and SA Urdu (read out). CONCLUSIONS: Translated versions are culturally and linguistically acceptable. The SDI-21 (Urdu) performs similarly to the English version when self-completed.

The moral economy of selfhood and caring: negotiating boundaries of personal care as embodied moral practice.

This paper engages with the dichotomous notions of caring underpinning social policy and practice in Britain, that splits up the 'carer' and 'cared for' into autonomous, unitary subjects, by locating personal care as an embodied, moral practice within a theoretical framework of relational ontology. Drawing on empirical accounts and narratives related to personal care within the context of advanced cancer, we argue that personal care involves negotiation of boundaries between notions of relatedness and legitimate dependence on one hand, and independence and integrity of the embodied self on the other; and we analyse how these boundaries are informed by particular cultural or religious scripts on gender, relatedness, conjugality and filial obligations. The paper draws on data and analysis based on observations and in-depth interviews with White and South Asian participants between 19 and 89 years of age receiving treatment for cancer, and family members closely involved in their personal care. In using a comparative method for analysis and understanding caring as an embodied moral practice and site of subjectivity across cultural/religious groups, it is suggested that ethnicity is not necessarily the only useful analytical concept to explore the illness and caring experiences of research participants from minority ethnic backgrounds.

Extending specialist palliative care to people with heart failure: semantic, historical and practical limitations to policy guidelines.

This paper explores the continuities and discontinuities in recent policy on the extension of palliative care to people with heart failure in the UK. It focuses on how professionals in cardiology and specialist palliative care negotiate their disciplinary boundaries within the context of these policy moves. It draws out the semantic, historical and practical tensions between the core values of cardiology, with its focus on 'living with heart failure', and specialist palliative medicine, with its focus on 'dying with heart failure'. A focus on negotiation of interdisciplinary boundaries reveals different engagements with notions of dying and palliation rather than simply different disease trajectories. Further, uncertainty about prognosis and the probability of sudden death pose a challenge to two core principles of specialist palliative care: 'open awareness' and 'good death'. We are not suggesting that these differences are insurmountable. Rather, in highlighting these tensions, our aim is to problematise the relationship between policy and practice, as being mediated by negotiations of disciplinary values (culture) within a local context. We conclude by recommending a wider discussion on notions of 'open awareness' and how professionals within different medical disciplines engage with alternate ways of dealing with uncertainty and sudden death as part of human condition. The arguments presented here are based on data and analysis from a larger qualitative study conducted during 2004-2005 in north and central England.