Abstract
The clinical severity in thalassaemia major (TM) depends on the underlying mutations of the beta-globin gene and the degree of iron overload.
The aim of the study was to investigate the impact of genotype on the development of endocrine complications in TM in our center.
126 (62 males, 64 females) thalassaemic patients of Greek Cypriot origin with a mean age of 31.2 (17-68) yr were included in the study. All patients, who were on the standard treatment protocol, were subsequently divided into two groups according to their genotype, group A (92): TM with no mitigating factor and group B (34): TM carrying one or more mitigating factors in the beta- and/or alpha-globin genes. Iron overload calculation was based on the amount of red cell consumption and the mean ferritin level over a 12-year period. Statistical analysis was performed with the SPSS program.