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A novel 223 kb deletion in the beta‐globin gene cluster was identified in a Chinese thalassemia major patient
Author(s) -
Zhu Fei,
Wei Xiaofeng,
Cai Decheng,
Pang Dejian,
Zhong Jianmei,
Liang Min,
Zuo Yangjin,
Xu Xiangmin,
Shang Xuan
Publication year - 2019
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.13021
Subject(s) - microcytosis , genetics , proband , thalassemia , gene cluster , biology , microbiology and biotechnology , point mutation , gene , mutation , multiplex ligation dependent probe amplification , alpha thalassemia , genotype , medicine , exon , anemia , iron deficiency
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.