A Possible Case of β‐Thalassemia From the Cemetery of Santa Maria Maggiore in Vercelli (Piedmont, Northern Italy,18th Century)

In Italy's Piedmont region, the city of Vercelli has a history of malaria transmission due to favorable conditions for Anopheles mosquitoes, which may have influenced the genetic prevalence of thalassemia. This study investigates the skeletal remains of a nonadult individual from the Church of Santa Maria Maggiore in Vercelli, dating to the 18th century, and suggests possible pathological changes indicative of β-thalassemia. The skeletal analysis reveals extensive pitting, marrow hyperplasia, cortical thinning, scalloped epiphyses, and a distinctive “rib-within-a-rib” radiological appearance, which could be consistent with β-thalassemia major and intermedia. While thalassemia is currently prevalent in Piedmont, no prior paleopathological evidence of the condition has been reported. This study highlights the diagnostic challenges in identifying β-thalassemia in ancient populations due to similarities with other anemias and the absence of ancient DNA. The importance of combining skeletal analysis with historical and environmental contexts is emphasized to improve diagnostic accuracy. This research provides new insights into the historical presence of β-thalassemia in Vercelli and underscores the potential influence of environmental factors and genetic disorders.