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. [ABSTRACT FROM AUTHOR]