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Abstract 6. 1. Thalassemia is a hereditary blood disorder involving deficient synthesis of the hemoglobin polypeptide chains. Beta-thalassemia may be the most well-known type of thalassemia and is also called Cooley’s anemia. It characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. Three main forms have been described, thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Regular transfusion therapy leads to iron overload related complications including endocrine complications (failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, and pituitary). The aim of this study was to evaluate the prevalence of gonads and thyroid dysfunction in transfusion-dependent patients with beta-thalassemia. This study was conducted on 54 patients with beta-thalassemia presented to the outpatient clinics of the National Liver Institute Minoufia University in the period from February to June 2012, in addition to 37 apparently healthy individuals matching age and gender of the patients served as a control group. |