Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.

-Thalassemia (-thal) is one of the most common genetic disorders worldwide. Molecular characterization of -thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7bp deletion at codons 63-65 (HBB: c.189_195delTCATGGC) in exon 2 of the -globin gene in a family from Guangxi Province, China. This novel mutation causes a shift in the normal reading frame of the -globin coding sequence and created a stop codon at codon 87 in exon 2, which leads to a (0)-thal phenotype.