α- and β-Thalassemia Show Distinct Bone Microarchitectural Phenotypes in Southeast Asian Adults: Associations with Marrow Expansion Phenotype

Information from the abstract

Bone disease is well recognized in β-thalassemia, but bone microarchitecture in α-thalassemia remains poorly characterized. We prospectively studied 86 adults with thalassemia at a tertiary center in northeast Thailand: 16 with α-thalassemia and 70 with β-thalassemia. Lumbar spine (LS) and femoral neck bone mineral density (BMD) and trabecular bone score (TBS) were measured using the same DXA platform. A prespecified Marrow Expansion Phenotype Score (MEPS; 0–3), comprising thalassemic facies, scoliosis, and hepatomegaly, served as an exploratory marker of chronic ineffective erythropoiesis. Sequential linear regression assessed attenuation of genotype effects after adjustment for transfusion-dependent thalassemia status and MEPS. Compared with β-thalassemia, α-thalassemia was associated with higher LS BMD (0.822 ± 0.130 vs. 0.754 ± 0.117 g/cm²; p = 0.039), higher LS Z-score (−1.27 ± 0.65 vs. −1.99 ± 0.99; p = 0.009), and a trend toward higher TBS (1.318 ± 0.102 vs. 1.255 ± 0.128; p = 0.071). Low LS Z-score (

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Related topics: Hemoglobinopathies and Related Disorders · Genetic Associations and Epidemiology · Bone health and osteoporosis research