Haema 2011; 2(3): 272-281
by Kallistheni Farmaki
Haematologist, Directress of Hospital’s Transfusion Service & Thalassaemia Unit, General Hospital of Corinth
Abstract
Endocrinopathies are serious complications, substantially affecting Thalassaemia major patients well being. Their frequency increases with patient’s age and the improvement of survival rates. Short stature, delayed puberty, hypogonadism, hypothyroidism, hypoparathyroidism, abnormalities of glucose and calcium metabolism and osteopathy will be discussed under the prism of checkup, prevention and treatment. Their pathogenesis is not yet fully elucidated. Tissue hypoxia due to chronic anaemia and iron overload because of systematic transfusions are the main determinant mechanisms. Early detection of endocrinopathies is imperative as most patients are likely to be asymptomatic and allows the use of appropriate chelation regimes or hormone substitution in time. Recent studies mentioned that with the use of intensive combined chelation, a decrease of iron load to normal levels, as well as the reversal of some endocrine complications was achieved in Thalassaemia patients. This phenomenon is unique and it is beneficial in reducing hormone replacement or other supporting treatments. Future challenges include different approaches to chelation and most likely different combinations in order to demonstrate such outcomes, ameliorating patient’s adherence to treatment, reducing morbidities and improving Thalassaemia patient’s quality of life.