Registering Remoteness: Haemoglobinopathies in Austria

Eva-Maria Knoll (Institute for Social Anthropology, Austrian Academy of Sciences, Austria)

Panel: Rare diseases in health policies and public health

Abstract: Due to human mobility, inherited blood disorders – notably thalassaemias and sickle-cell disease – have transgressed their endemic geographical confinements and transformed into a global public health challenge. Over the past decade the number of cases has significantly increased in central and northern Europe. In Austria patient numbers have doubled. We still know little about the thalassaemia and sickle-cell patients and carriers in this alpine location – and about this new form of ‘remoteness’ shaped by geography, genes and human agency with its significant impact on the quality of care and prevention.
In rare diseases patient or disease registries are considered basic infrastructure to increase knowledge and to generate evidence. The Thalassaemia International Federation even allocates to registries a major role in addressing those challenges the care of thalassaemia patients is currently facing. This kind of collected data on the disease burden, features, management and outcomes on local, national and global levels allows the evaluation and benchmarking of services and the detection of inequalities and unmet needs. Furthermore, registries have the potential for social science and translational research to address gaps in knowledge and to improve patient care.
In this paper I explore the potentials and challenges of a registry in the haemoglobinopathy–migration nexus. Thereby I am reflecting on my experience of collaborating as a medical anthropologist in a patient registry in the making.