Background: Hb E/β-thalassemia is the most common β-thalassemia disorder in Southeast Asia. Children with Hb E/β-thalassemia vary greatly in red cell transfusion requirement. Some are transfusion dependent (TD) whereas others are non-TD (NTD). Iron-overload associated with transfusion dependency causes endocrinopathies such as delayed puberty, short stature and low bone mass. The prevalence of these complications are high in TD patients with iron overload. While NTD thalassemic patients are considered to have low risks of developing endocrine complication. As yet, the prevalence of short stature, delayed puberty and low bone mass in NTD thalassemic patients is unknown.
Objective: To evaluate prevalence of short stature, delayed puberty, low bone mass in adolescents with NTD HbE/β-thalassemia.
Method: We investigated the prevalence of short stature, delayed puberty and low bone mass among 22 adolescents aged 13.220 years old with NTD Hb E/β-thalassemia by assessing their growth, pubertal status and BMD measured by DXA. BMD values were adjusted for bone age (BA).
Results: The prevalence of short stature, delayed puberty, and low bone mass are 9.1, 9.1, and 63.6% respectively. Mean hemoglobin and serum ferritin levels were 8.9±0.9 g/dL and 211.6±145.4 ng/mL, respectively. The percentage of patients with hemoglobin levels of ≥8.5 g/dl in patients with normal BMD is significantly higher than patients with low bone mass (86.7 vs 28.6%, P=0.014). Average hemoglobin level correlates significantly with L2-4 and total body BMD Z-score adjusted for BA.
Conclusion: This is the first study to show that low bone mass is highly prevalent in adolescents with NTD Hb E/β-thalassemia. Anemia seems to contribute to low bone mass in this study. Our findings have important implications for the clinical management of these NTD patients. Whether raising hemoglobin levels by more intensive transfusion in NTD thalassaemic patients will ameliorate low bone mass needs to be further investigated.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology