Severe β-Thalassemia Intermedia in a Compound Heterozygous Patient for the −30 (T>A) β+-Thalassemia Mutation and the δ0β+-Senegalese Deletion

Abstract

We report the clinical and biochemical studies of a patient initially diagnosed with β-thalassemia intermedia (β-TI), which, with age, has progressed to a severe transfusion-dependent form. The patient is a compound heterozygote for the −30 (T>A) β+-thalassemia (β+-thal) mutation and the rare δ0β+-Senegalese deletion. Many complications are reported as well as the specific treatments initiated.