Recognition of sickle cell anemia in skeletal remains of children

Abstract

The present study discusses in detail the osteological changes associated with sickle cell anemia in children and their importance in differential diagnosis. Posterior calcaneal and specific articular surface disruptive metacarpal lesions are diagnostic for sickle cell anemia. Calvarial thickening, tibial and femoral cortical bone thickening, and bowing are of more limited utility in differential diagnosis. Granular osteoporosis, pelvic demineralization and rib broadening are nonspecific. Localized calvarial "ballooning," previously not described, may have diagnostic significance. Bone marrow hyperplastic response (porotic hyperostosis) in sickle cell anemia produces minimal radiologic changes contrasted with that observed in thalassemia and blood loss/hemolytic phenomenon. Two other issues, the osteological criteria for discriminating among the anemias and the purported relationship between porotic hyperostosis and iron deficiency anemia, are also discussed. There is sufficient information to properly diagnose the four major groups of anemias, and further, to establish that iron deficiency is only indirectly associated with porotic hyperostosis. The hyperproliferative bone marrow response (manifest as porotic hyperostosis) to blood loss or hemolysis exhausts iron stores, resulting in secondary iron deficiency.

A Probable Case of Thalassemia Intermedia from Tell Masaikh, Syria

“…Some authors suggest that the intensity and distribution of skeletal changes may help in differentiating between different types of anaemia (e.g. Hershkovitz et al, ).…”

“…On the other hand, the ‘hair‐on‐end’ phenomenon is very common in individuals with thalassemia (e.g. Hershkovitz et al, ).…”

“…Another finding suggestive of thalassemia is the involvement of the facial bones (e.g. Stuart‐Macadam, ; Hershkovitz et al, ). Many thalassemic patients display changes in the maxillary region (Resnic, ).…”

“…However, features of granular osteoporosis, bone remodelling and periosteal new bone formation were evident in the preserved fragments. Changes observed in the sternum and the ribs (thickening and periosteal reactions) lack specificity (Hershkovitz et al, ); however, they reflect the same process as the ‘hair‐on‐end’ phenomenon—the proliferation of bone marrow behind the bony limitations, with the detachment of the periosteum and subsequent new bone apposition. The differential diagnosis of PH includes hypovitaminoses.…”

Epidemiology and Pathology

“…In contrast to other regions where genetic forms of anemia in prehistoric populations are largely unknown, in the eastern Mediterranean a complex of factors may be respon sible for their development. their differentiation has benefited from the application of scanning electron microscopy (Maat and Baig 1990), the systematic study of forensic cases (hershkovitz et al 1997;Lagia, Eliopoulos, and Manolis 2007), and the adoption of molecular techniques (Faerman et al 2000;Filon et al 1995). Many factors play a role in the development of acquired anemias, ranging from innate causes concerning increased iron demands during childhood, puberty, pregnancy, and nursing, to parasitic infestation and gastrointestinal disease resulting from social and cultural factors (StuartMacadam 1989;Walker et al 2009;Piperata, hubbe, and Schmeer 2014).…”