Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion.
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.
Griffon
Céline
C
Molecular Pathology Unit, Department of Biochemistry, Edouard Herriot University Hospital, Lyon, France.
Joly
Philippe
P
Sénéchal
Agathe
A
Philit
François
F
Francina
Alain
A
D000328:Adult; D001803:Blood Transfusion; D006801:Humans; D008297:Male; D009154:Mutation; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D055546:delta-Globins / Q000235:genetics*
D055544:beta-Globins; D055546:delta-Globins