Abstract
Endocrine dysfunction in thalassaemia is amongst the most common complication and is principally attributed to excessive iron overload and suboptimal chelation. The prevalence is quite high particularly in multiethnic populations but determining the prevalence is often difficult due to the widespread heterogeneity of the population and timing of exposure to chelation therapy. Disturbances in growth, pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes and disorderly bone growth are commonly encountered. Early detection and institution of appropriate transfusion regimen and chelation therapy and treatment of complications are the keys to managing this population including regular follow. In this article, we review the literature in relation to the various endocrine complications encountered in thalassaemia.
Highlights
Thalassaemia major is a hereditary disorder of haemoglobin synthesis and the homozygous state results in severe anaemia
The combination of transfusion and chelation therapy has dramatically extended the life expectancy of thalassaemic patients but is complicated by citrate toxicity and subsequent iron overload resulting in a high incidence of endocrine abnormalities in children, adolescents and young adults [1]
Sexual development & fertility, abnormal bone mineralisation, diabetes mellitus, hypothyroidism and hypoadrenalism are the main endocrine complications found in thalassaemic patients [9]
Summary
Thalassaemia major is a hereditary disorder of haemoglobin synthesis and the homozygous state results in severe anaemia. The combination of transfusion and chelation therapy has dramatically extended the life expectancy of thalassaemic patients but is complicated by citrate toxicity and subsequent iron overload resulting in a high incidence of endocrine abnormalities in children, adolescents and young adults [1]. Endocrinopathies are amongst the common complications of thalassaemia but determining the exact prevalence is difficult because of differences in age of first exposure to chelation therapy and the continuing improvement in survival in well-chelated patients [4]. Sexual development & fertility, abnormal bone mineralisation, diabetes mellitus, hypothyroidism and hypoadrenalism are the main endocrine complications found in thalassaemic patients [9]
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