A novel beta-globin gene CAP site mutation in association with the 92+1G > A mutation was found in a thalassemia intermedia patient

作者：Letitia Dan^*; Rodica Talmaci; Xenia Feleki; Daniel Coriu; Florentina Vladareanu; Marina Kleanthous; Ciprian Tecuceanu; Lucian Gavrila

来源：Romanian Biotechnological Letters, 2011, 16(2): 6042-6047.

• HBB GENE
• THALASSEMIA
• 5 '-UTR MUTATION

This paper describes a novel beta-thalassemia mutation 3 base pairs downstream of the CAP site of the beta-globin gene, -48A > T. The proband, an I I-year-old Romanian girl, is a compound heterozygote for this mutation and the common 92+1G > A beta(0) thalassemia mutation. She has a mild thalassemia intermedia phenotype and is transfusion independent. Her mother (N/92+1G > A) has total hemoglobin levels of 11.1 g/dl. while the proband's father (N/-48A > T) has normal hematological indices. These data indicate that this novel CAP site mutation may play a role in the phenotypic expression of the disease in this case.

• 出版日期2011-4