Radiological Bone Changes in Thalassemia Major

Cambouris, Th.

doi:10.1007/978-3-642-72587-6_4

Cited by 3 publications

(1 citation statement)

References 21 publications

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“…For example, "radiating" subperiosteal new bone on the shafts of an infant was reported. Although non-specific, this pathological feature is consistent with hematopoiesis observed in some cases of thalassemia intermedia (Adamopoulos & Petrocheilou, 2019;Cambouris, 1989) rather than cortical rarefaction observed in thalassemia major, such as in the case reported here. Extramedullary hematopoiesis of long bones was also observed in the pre-agricultural sample from Con Co Ngua reported by Vlok et al (2021).…”

Section: Paleopathological Implications Of Thalassemia Diagnosis In Prehistorysupporting

confidence: 91%

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

Techataweewan

Mann

Vlok

et al. 2021

Intl J of Osteoarchaeology

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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.

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Section: Paleopathological Implications Of Thalassemia Diagnosis In Prehistorysupporting

confidence: 91%

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

Techataweewan

Mann

Vlok

et al. 2021

Intl J of Osteoarchaeology

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Platyspondyly in treated beta-thalassemia

Orzincolo

Castaldi

Scutellari

1994

European Journal of Radiology

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Forager and farmer evolutionary adaptations to malaria evidenced by 7000 years of thalassemia in Southeast Asia

Vlok

Buckley

Miszkiewicz

et al. 2021

Sci Rep

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Thalassemias are inherited blood disorders that are found in high prevalences in the Mediterranean, Southeast Asia and the Pacific. These diseases provide varying levels of resistance to malaria and are proposed to have emerged as an adaptive response to malaria in these regions. The transition to agriculture in the Holocene has been suggested to have influenced the selection for thalassemia in the Mediterranean as land clearance for farming encouraged interaction between Anopheles mosquitos, the vectors for malaria, and human groups. Here we document macroscopic and microscopic skeletal evidence for the presence of thalassemia in both hunter-gatherer (Con Co Ngua) and early agricultural (Man Bac) populations in northern Vietnam. Firstly, our findings demonstrate that thalassemia emerged prior to the transition to agriculture in Mainland Southeast Asia, from at least the early seventh millennium BP, contradicting a long-held assumption that agriculture was the main driver for an increase in malaria in Southeast Asia. Secondly, we describe evidence for significant malarial burden in the region during early agriculture. We argue that the introduction of farming into the region was not the initial driver of the selection for thalassemia, as it may have been in other regions of the world.

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Radiological Bone Changes in Thalassemia Major

Cited by 3 publications

References 21 publications

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

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

Platyspondyly in treated beta-thalassemia

Forager and farmer evolutionary adaptations to malaria evidenced by 7000 years of thalassemia in Southeast Asia

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