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.

Paleoepidemiology of cribra orbitalia: Insights from early seventh millennium BP Con Co Ngua, Vietnam

“…These hereditary disorders emerged in the region as a protective mutation against malaria (Wiwanitkit, 2008) and can clearly lead to a range of skeletal changes in children, including cribra orbitalia (Oxenham & Cavill, 2010). The archeological context of thalassemia in mainland Southeast Asia has recently been discussed by Techataweewan et al (2021), and therefore only summarized here. The profound skeletal signatures of beta thalassemia major, and also alpha thalassemia major to an extent, are well documented, with some of these changes also apparent in less severe forms of thalassemia (see Lewis, 2012; Vlok et al, 2021).…”

Health Indicators in Skeletons from Iron Age Central Thailand: A Preliminary Report from the Site of Phromthin Tai, Lopburi Province | ตัวบ่งชี้สุขภาพอนามัยบนกระดูกมนุษย์สมัยเหล็กในภาคกลางของประเทศไทย: รายงานเบื้องต้นจากแหล่งโบราณคดีพรหมทินใต้ จังหวัดลพบุรี

“…In this respect, they are quite similar to both the Ban Pong Manao and Ban Chiang populations. Low frequencies of these conditions might be interpreted as evidence that nutritional stresses such as scurvy or nutrition-related anemias (Ortner and Ericksen 1997, Oxenham and Cavill 2010, Walker et al 2009, severe parasitic infection resulting in anemia (Sullivan 2005), and/or problems with malaria and the genetic polymorphisms that protect current populations from malaria (Techataweewan 2021 were not a serious problem for the people living at these sites during the Iron Age. However, the osteological paradox (Wood et al 1992) cautions that we should consider other possibilities -that a disproportionate number of these individuals might have died from such conditions before they developed cranial lesions, and the surviving adults were unlikely to experience these stresses long enough to develop identifiable lesions.…”

“…Anemia is also often a side effect of scurvy, so the two may co-occur (Weinstein et al 2001, Brickley 2018). In areas where malaria is endemic, anemia caused by malaria or genetic polymorphisms such as thalassemia are also potential causes (Techataweewan 2021. Criteria for attempting to distinguish these different etiologies are still being discussed in the literature (Brickley 2018, Klaus 2017, Zuckerman et al 2014) but most of these discussions have occurred after the data for Phromthin Tai and the comparative sites were collected, and therefore these data may represent a mix of etiologies.…”