Oral Presentation 33rd ASM of the Australian & New Zealand Bone & Mineral Society 2023

Severe Low Bone Mineral Density is Common in Patients with Beta Thalassaemia Major: A Single Centre Experience  (#31)

Mike Lin 1 , Stephen Twigg 1 2 , Arianne Sweeting 1 2 , Albert Hsieh 1
  1. Department of Endocrinology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia
  2. Sydney Medical School, The University of Sydney, Camperdown, NSW, Australia

Background: Advances in Thalassaemia treatment have improved patient survival rates [1], however complications, including osteoporosis, require ongoing consideration. Data on osteoporosis prevalence and risk factors are limited, while underlying causes are complex [2,3]. We determined prevalence, risk factors and treatment of low bone mineral density (BMD) among individuals with Beta Thalassaemia major at a tertiary referral centre. 

Methods: Individuals with Beta Thalassaemia major with DXA results at the same institution were included. Data collected included DXA derived BMD, endocrinopathy comorbidities, chelating therapy, vitamin D, and ferritin levels. Osteoporosis was defined as DXA T-score <-2.5 SD in individual above 25 years of age. 

Results: 35 patients (14 males, 21 females) with mean age 40.1 ± 10.0 years (range 21 to 64 years) were included. Common endocrinopathies included hypogonadism (29%), hypothyroidism (20%), growth hormone/IGF-1 deficiency (20%), diabetes mellitus (9%), and hypoparathyroidism (9%). Based on DXA results 43% (15) had osteoporosis (T-scores <-2.5 SD) with an average age at diagnosis of 28.5 ± 5.4 years. Additionally, 43% (15) had osteopenia (T-scores between -2.5 and -1 SD). Three individuals reported minimal trauma fractures (MTF) of which 2 had osteopenia. Out of the 17 patients diagnosed with osteoporosis via DEXA or MTF history, only 41% (7) had received antiresorptive therapy (6 with Zoledronic acid, 1 with Denosumab followed by Risedronate) with a mean duration of 4.7 ± 3.9 years. 24% (4) were on concurrent testosterone or hormonal replacement therapy. There were no significant correlations between osteoporosis and risk factors such as age, comorbid endocrinopathies, iron chelation therapy, vitamin D, or ferritin levels (all p >0.05).

Conclusion: Osteoporosis is common and presents early in individuals with Beta Thalassaemia major, but treatment uptake is low. Systematic early screening, risk factor identification and initiation of antiresorptive and/or hormone replacement therapy are needed.

  1. References: 1. Farmakis D, Porter J, Taher A, Cappellini MD, Angastiniotis M, Eleftheriou A. 2021 Thalassaemia International Federation guidelines for the management of transfusion-dependent thalassemia. Hemasphere. 2022;6(8). 2. Wong P, Fuller PJ, Gillespie MT, Kartsogiannis V, Kerr PG, Doery JC, Paul E, Bowden DK, Strauss BJ, Milat F. Thalassemia bone disease: a 19‐year longitudinal analysis. Journal of Bone and Mineral Research. 2014;29(11):2468-73. 3. Pollak RD, Rachmilewitz E, Blumenfeld A, Idelson M, Goldfarb AW. Bone mineral metabolism in adults with β‐thalassaemia major and intermedia. British Journal of Haematology. 2000;111(3):902-7.