Fei Zhu1, Xiaofeng Wei1, Decheng Cai1, Dejian Pang1, Jianmei Zhong1, Min Liang1, Yangjin Zuo2, Xiangmin Xu1,3,4, Xuan Shang1,3,4. 1. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. 2. Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, China. 3. Guangdong Genetics Testing Engineering Research Center, Guangzhou, China. 4. Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, China.
Abstract
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.
INTRODUCTION: Although mutations in the humanbeta-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.