A new investigative strategy to diagnose β-thalassemia syndrome in past human populations

The study of thalassaemia syndromes in archeological human remains is of growing interest in the field of paleopathology. However, a definitive diagnosis of the disease in skeletonized individuals remains difficult. Several non-specific bone lesions have been suggested as the most likely evidence of β-thalassaemia syndrome. In particular, skull lesions have been considered by several scholars as the most indicative of this hematopoietic disorder, while other authors have identified postcranial lesions as the best evidence of β-thalassemia. In this study, we reviewed the main features that have been identified in β-thalassaemia patients thanks to an extensive bibliographic research of clinical cases, radiological and microscopic analyses. Our aim was to discern between those skeletal lesions that can be considered “indicative/diagnostic” and those that are “indicative/non-diagnostic” of β-thalassaemia syndrome. With this knowledge, we developed a new evaluation form (Eva-BeTa) and tested it on previously published archeological cases. Based on our results, we believe that Eva-BeTa can be a valid diagnostic tool for the identification of ancient individuals potentially affected by β-thalassemia for further genetic confirmation.