Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion.

Abstract excerpt

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 δ(0)β(+)-Senegalese deletion. Many complications are reported as well as the specific treatments initiated.

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