Thalassemia major in a 49-year-old Thai female: Gross and X-ray examination of dry bone

Abstract

Objective: We present a clinically diagnosed case of beta thalassemia major in a deceased 49-year-old Thai female for comparison with paleopathological cases and consideration of age-related changes of anemic skeletal lesions. Methods: Dry bone and radiographic descriptions of pathological changes are provided and compared to clinically documented features of thalassemia. Results: The limb bones in this case exhibit extreme “ballooning” (widening), cortical rarefaction (cortex thinning due to osteoporosis), and varus deformity of the proximal humeri. In the cranium, reduction and coarsening of the trabeculae due to marrow hyperplasia, and radiographic “hair-on-end” appearance are evident. This individual did not present with severe porotic hyperostosis or cribra orbitalia but exhibited diploic expansion. Significance: This case study provides a rare opportunity for a detailed examination of the bone changes present in a fatal homozygote with severe anemia. The case also enables discussion of thalassemia in the wider Southeast Asian context, as major gene variations are known to impact bone metabolism and possibly cause the development of macroscopically observable traits. The absence of observable cribra orbitalia or severe porotic hyperostosis in such an extreme case calls for careful consideration of age-related skeletal changes in the diagnosis of genetic anemias (and anemia in general). Limitations: The individual received blood transfusion treatment that likely prolonged her life-impacting skeletal progression. Suggestions for future research: Descriptions of different anatomical cases of thalassemia, particularly when accompanied with detailed clinical documentation, would further enable the development of more rigorous diagnostic protocols that accommodate skeletal variation in disease expression.