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.

考古人类遗体中地中海贫血综合征的研究在古病理学领域越来越受到关注。然而，对骨骼化个体的疾病进行明确的诊断仍然很困难。有人提出了几种非特异性的骨病变作为β地中海贫血综合征的最可能证据。特别是，一些学者认为颅骨病变是这种造血功能障碍的最有指征，而其他作者则认为颅后病变是β地中海贫血的最佳证据。在这项研究中，由于对临床病例进行了广泛的书目研究，放射学和显微镜分析，我们回顾了在β地中海贫血患者中发现的主要特征。我们的目的是辨别可以被视为“指示性/诊断性”的骨骼病变与那些被认为是β地中海贫血综合症的“指示性/非诊断性”骨骼病变。有了这些知识，我们开发了一种新的评估表（Eva-BeTa），并在以前发表的考古案例中对其进行了测试。根据我们的结果，我们认为Eva-BeTa可以作为一种有效的诊断工具，用于识别可能受到β地中海贫血影响的古代个体，以进行进一步的基因确认。