Investigation and Management of Endocrinopathies in Thalassaemia Major

A combination of sub-therapeutic chelation and subsequent iron overload are regarded as the principal drivers of endocrine dysfunction in thalassaemia. The clinical presentation of endocrine complications and their timing of onset can be highly variable, in part due to population heterogeneity but also variation in chelation strategies. Endocrinopathies commonly associated with thalassaemia include: growth delay; pubertal delay; gonadal dysfunction; thyroid disorders; parathyroid and adrenal gland impairment; impaired bone metabolism; and type 2 diabetes mellitus. In this chapter we summarise the main presentations of endocrine disorder in thalassaemia, summarising their epidemiology, clinical presentation and pathophysiologic basis. Furthermore, we review screening, monitoring and treatment strategies, with particular regard to the UK Thalassaemia Society’s 2016 National Standards.