Thalassemia: Macroscopic and radiological study of a case

Differentiation of the genetic and the acquired anaemias, particularly in areas of the world where they may co-exist, has been a challenge for palaeopathologists for over 100 years. In this paper we present macroscopic and radiographic skeletal lesions that are associated with the thalassemias in a 14-year-old girl from a modern reference collection of the University of Athens. This individual is of known sex, age, cause of death, place and dates of birth and death. The case is examined in terms of epidemiology, growth, distribution and severity of lesions and differential diagnosis. The entire skeleton is affected by marrow hyperplasia: lesions of the axial skeleton are extreme, and the appendicular skeleton is severely affected as well. The odontofacial manifestations that are diagnostic of thalassennia and differentiate it from other anaemias are present and include: maxillary and mandibular hyperplasia, reduced sinuses, displacement of maxillary dental structures, overbite, and generalised osteopenia. The development of extreme bone lesions and the 'advanced'age-at-death of this individual is explained as either the result of thalassennia major under a low transfusion regimen that was the norm during her lifetime, or to a form of thalassemia intermedia that allows survival to later life at the expense of gross skeletal alterations. The present status of skeletal studies in Greece does not support the identification of a genetic anaemia in past populations. The potential contribution of the current analysis in differentiating the anaemias in antiquity is evaluated. Copyright (c) 2006 John Wiley & Sons, Ltd.