INCIDENCE OF ENDOCRINE COMPLICATIONS AND CLINICAL-DISEASE SEVERITY RELATED TO GENOTYPE ANALYSIS AND IRON OVERLOAD IN PATIENTS WITH BETA-THALASSEMIA

The incidence of endocrine dysfunction in relation to the detailed gen otype of beta-thalassaemia is investigated In this study. In addition, the association of genotype to specific clinical features of beta-tha lassaemia is examined, together with the relationship between serum fe rritin levels and endocrine complications. Ninety-seven patients were included, all with transfusion dependent beta-thalassaemia, Patients w ere divided into 2 categories; group 1 consisted of patients with a be ta(0)/beta(0) genotype with or without a concomitant alpha-globin gene deletion as well as patients with beta(0)/beta(+) or beta(+)/beta(+) genotype and normal alpha-globin chain synthesis, Group 2 included pat ients with beta(+)/beta(+) Or beta(+)/beta(0) genotype and one alpha-g lobin chain deletion and those with a moderate amount of beta-globin c hain synthesis (beta(++)) and normal alpha-globin chain synthesis. The results showed that group I patients were more likely to have severe clinical disease (p=0.005), Sixty-four patients (66%) had at least 1 e ndocrine disorder and 39 (40%) had multiple endocrinopathies: the most common abnormality was hypogonadotrophic hypogonadism (HH). There was a significant association between patients with group I genotypes and the presence of HII and impaired glucose tolerance or diabetes, A pos itive correlation was demonstrated between serum ferritin concentratio ns and the presence of thyroid or parathyroid dysfunction.