Compound Heterozygosity For A Novel Mutation Codon 104 (-A) (Hbb: C.313dela) And Codons 41/42 (-Cttt) (Hbb: C.126_129delcttt) Leading To Beta-Thalassemia Major In A Chinese Family

beta-Thalassemia (beta-thal) is a hereditary blood disorder characterized by the reduced or absent synthesis of beta-globin chains. Here, we report a case of severe thalassemia with compound heterozygosity for a novel deletion mutation at codon 104 (-A) (HBB: c.313delA) and codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) on the beta-globin gene (HBB), and a coinheritance of the -alpha(4.2) (leftward) deletion on the alpha-globin gene cluster. The proband was a 12-year-old boy, and four other family members were involved in this study. This novel frameshift mutation caused classical beta-thal trait in the heterozygote and a transfusion-dependent form of beta-thal major (beta-TM) in compound heterozygosity with other beta(0) mutations.