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.

• β-Thalassemia intermedia (β-TI)
• Senegalese deletion
• Clinical complications