Abstract 12

DBA, or congenital pure red cell aplasia, first described over 60 years ago, is still incompletely understood. Its rarity (5/106 live births) and apparent heterogeneity with respect to presentation, response to therapy, associated physical anomalies and pattern of inheritance, make collaborative studies essential. The ESPHI DBA Working Group was established with the initial aim of defining uniform diagnostic criteria, to allow comparable population based registry data to be compiled. The national registries would then provide the essential background to studies on the pathogenesis, natural history and therapy of DBA. From its first meeting in Paris in November 1992 (3 founder members from France, Sweden and Switzerland), the DBA Working Group has grown to include participants from over 14 countries, meeting regularly. Early in the history of the Group it was decided to collect and share DNA from affected families, as it was clear that collaboration was to play an essential role in genetic studies of DBA. This provided a valuable resource for familial DBA linkage analysis following the fortuitous discovery of a balanced chromosome translocation in a sporadic case of DBA. We now know that there is an important DBA locus on chromosome 19q, but also that there is more than one "DBA gene". The collaborative work of the ESPHI DBA Working Group was central to this important milestone in DBA research, but we still have musch to do. One major goal is to find alternative therapies for steroid-refractory patients; the group's first publications arose from a collaborative study of IL-3, and a trial of mega-dose methylprednisolone is underway. Future targets include collaborative studies of growth hormone to treat the characteristic growth retardation of DBA.