The Molecular Basis of Beta-Thalassemia Intermedia in Egyptian Children and its Association with the Clinical Phenotype

Abstract

halassemia is a group of blood diseases caused by one or more gene defects leading to production of abnormal hemoglobin (Hb) which lose its oxygen carrying capacity in variable degrees giving a wide range of the clinical phenotypes of this inherited form of anemia. The term β-thalassemia intermedia (β-TI) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor thalassemia yet too mild to be termed major thalassemia. However, there remains substantial overlap between the three conditions. The main objective of this study was to evaluate the variable clinical phenotypes among Egyptian pediatric patients with TI, and to study the phenotype – genotype correlation with the encountered β- chain mutations. A cross-sectional study included 37 children and adolescents diagnosed clinically as having TI and following up regularly in the Pediatric Hematology clinic – Ain Shams University, were enrolled in the current study after fulfilling the inclusion criteria and obtaining consents from their parents. Detailed clinical evaluation sheets were done for patients including full medical history with revision of hospital records. Transfusion history was reported including onset, frequency, intervals, mean pre-transfusion Hb level, and transfusion index. Treatment lines including chelation therapy, L-carnitine and