First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family. (4th July 2018)

• Record Type: Journal Article
• Authors: He, Sheng; Qin, Qian; Lin, Li; Zuo, Yangjin; Chen, Qiuli; Wei, Honghwei; Zheng, Chenguang; Chen, Biyan; Qiu, Xiaoxia
• Is Part Of: Hemoglobin. Volume 42:Number 4(2018)
• Page Start: 272
• Page End: 275
• Publication Date: 2018-07-04
• Subjects: β-Globin gene -- β-thalassemia (β-thal) -- deletion -- multiplex ligation-dependent probe amplification (MLPA); Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1531018
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β + ) or absent (β 0 ) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. In China, more than 46 different mutations have been found, while approximately five large deletional types of β-thal have been reported. Here we described a large deletional mutation of the β-globin gene cluster previously unreported in the Chinese population, the 3.5 kb deletion (NC_000011.10: g.5224302-5227791del3490bp) removing the β-globin gene promoter and the whole β-globin gene leading to a β 0 -thal phenotype.