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

This paper describes a novel β-thalassemia mutation 3 base pairs downstream of the CAP site of the β- globin gene, -48A>T. The proband, an 11-year-old Romanian girl, is a compound heterozygote for this mutation and the common 92+1G>A β(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.