First Detection Of A Splice Acceptor Site Beta-Thalassemia Mutation: Ivs-I-130 (Hbb: C.93-1g4c) In A Chinese Patient

We present the first description of a Chinese patient with a rare beta-thalassemia (beta-thal) mutation IVS-I-130 (HBB: c. 93-1G>C). This mutation is a splice donor site mutation, and is associated with a beta(0)-thal phenotype.