Radiographic Skeletal Features of Beta-Thalassemia: Pictorial Essay and Background Etiology

Presentation Format: Educational poster presentation.

Purpose or Learning Objective: To provide an educational pictorial review of the radiographic osseous findings in β-thalassemia major (βΤΜ) and discuss the background etiology.

Methods or Background: β-Thalassemia is an inherited hematologic disorder related to reduced or absent synthesis of β-hemoglobin chains that causes ineffective erythropoiesis. Based on clinical and laboratory findings, βΤΜ, or Cooley's anemia, is the most severe form of the disease, requiring regular transfusions. Untreated βTM patients develop severe anemia, hepatosplenomegaly, skeletal deformities, and retarded growth. They usually die of heart failure before reaching puberty.

Bone marrow expansion (ineffective erythropoiesis) is the main mechanism explaining the skeletal findings. Although these well-documented findings are encountered with a progressively reduced frequency and severity nowadays, due to regular transfusion programs and iron-chelation therapy (ICT), they may be seen in inadequately transfused patients, especially in resource-poor areas. Additionally, many other factors have an impact on the skeleton: ICT toxicity with direct negative effects on osteoblast and osteoclast activity, endocrine complications, low vitamin D levels and zinc deficiency, liver and kidney issues, and reduced physical activity.

Results or Findings: We retrospectively studied the radiographs of patients followed by departments. Through a case-based review, we present the main radiographic features encountered in routine practice:

Axial skeleton skull: Slight thickening of the vault, granular osteoporosis, diploe widening, “hair-on-end” sign, camel-back/“hot cross bun” skull shape

Facial bones: Paranasal sinuses and mastoids, hypo-pneumatization hypoplasia, involvement of facial bones (Cooley or “mouse face”), affected dentition

Ribs: Widening, trabeculated pattern, ”finger-like” appearance of “soft tissue” lesions, cortical erosions, “rib within the rib” sign

Spine: Height-to-width ratio increase, bulging, subchondral bone plates thinning, “fish-type” vertebrae, end-plate irregularities, platyspondyly, osteopenia/osteoporosis, fractures, degenerative disk disease

Pelvis: “Cob-webbing” appearance

Appendicular skeleton

Small tubular bones: Cortical thinning(washed-out “worm-eaten” appearance), coarse trabeculation, squared/sausage-shaped configuration, nutrient foramina enlargement

Long bones: Widening of medullary canal, coarse trabecular pattern, cortical atrophy, “swollen” long bones, Erlenmeyer flask deformity, metaphyseal irregular transverse radiodense lines

Early fusion of epiphyses

Metaphyseal/epiphyseal dysplastic changes and growth failure associated with deferasirox chelation

Deferiprone-related arthropathy

Avascular necrosis

Osteoarthropathy and crystal deposition

Osteopenia/osteoporosis and fractures

Conclusion: The marked skeletal deformities in βTM have been replaced by less severe ones, with osteoporosis currently the most clinically important skeletal complication. Close surveillance and proper management are of paramount importance for substantially improving the quality of a thalassemic patient's life.

Publication History

Article published online:
03 June 2021