A novel 223 kb deletion in the beta‐globin gene cluster was identified in a Chinese thalassemia major patient

INTRODUCTION: Although mutations in the human beta-globin gene cluster are essentially point mutations, several large deletions have been described in recent years. METHODS: We have identified a novel 223 kb deletion in a Chinese patient by multiplex ligation-dependent probe amplification and characterized it by next-generation sequencing, Gap-PCR, and DNA sequence analysis. RESULTS: The deletion extends from the 3'UTR of the δ globin gene (HBD) to 215 kb downstream of the HBB. Compound heterozygous with the typical β-thalassemia-CD41-42(-CTTT) mutation, the proband presented with microcytosis and hypochromic red cells, and required regulate transfusion. The patient was clinically diagnosed with thalassemia major. CONCLUSION: Our study widens the mutation spectrum of β-thalassemia. In addition, this case may spark future studies of the regulatory regions of the beta-globin gene cluster.