Paper short abstract:

Patient registries are an unmet need in the globalization of haemoglobinopathies. This paper reflects on collaboration in a patient registry in-the-making in Austria; patients’ advocacy meet here with different perspectives of genetics, clinical routine, and medical anthropological curiosity.

Paper long abstract:

Patient and tissue registries are a pronounced space for “awkward collaboration” in Rare Diseases. Defined as organized systems that use observational methods to collect uniform data on a population defined by a particular disease, patient registries often assemble different perspectives and diverse goals. These spaces are addressed for scientific interaction, publication and career building, for establishing collaborative relationships, for generating sociability, gaining visibility and anchoring advocacy.

Patient registries are identified as a crucial yet unmet need in the progressing globalization of haemoglobinopathies by an international patient advocacy organization (IPAO). In central and northern Europe where haemoglobinopathies, autosomal recessive inherited blood disorders, notably thalassaemias and sickle-cell disease, are not endemic and case numbers are rare such basic information as the foothold for advocacy is missing.

This paper reflects on “awkward collaboration” in a patient registry for haemoglobinopathies in-the-making in Austria. It is a transdisciplinary collaboration where the IPAO’s agenda meet with the different goals and perspectives of genetics, clinical routine, and medical anthropological curiosity. The significance of Hb levels is not a given, and notions of ‘being healthy’ or ‘being normal’ and of consanguine relations are not keywords in common.