摘要
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.