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

ABSTRACT

We report the clinical and biochemical studies of a patient initially diagnosed with ß-thalassemia intermedia (ß-TI), which, with age, has progressed to a severe transfusion-dependent form. The patient is a compound heterozygote for the -30 (T>A) ß(+)-thalassemia (ß(+)-thal) mutation and the rare δ(0)ß(+)-Senegalese deletion. Many complications are reported as well as the specific treatments initiated.