Severe ß-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) ß(+)-thalassemia mutation and the δ(0)ß(+)-Senegalese deletion.
Hemoglobin
; 34(5): 505-8, 2010.
Article
en En
| MEDLINE
| ID: mdl-20854126
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Globinas beta
/
Globinas delta
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Hemoglobin
Año:
2010
Tipo del documento:
Article
País de afiliación:
Francia