Background: The clinical severity in thalassaemia major (TM) depends on the underlying mutations of the beta-globin gene and the degree of iron overload.
Objective: The aim of the study was to investigate the impact of genotype on the development of endocrine complications in TM in our center.
Subjects And Methods: 126 (62 males, 64 females) thalassaemic patients of Greek Cypriot origin with a mean age of 31.
Therapeutic advances in thalassaemia major have significantly increased the average lifespan and improved the quality of life in thalassaemic patients. Therefore attainment of reproductive capacity and creation of a family has become a great task. Endocrine complications due to haemosiderosis and especially hypogonadotrophic hypogonadism are still present in a significant number of patients worldwide and often becomes a barrier in their desire for parenthood.
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