Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family. (2nd November 2017)

• Record Type: Journal Article
• Authors: He, Sheng; Qin, Qian; Huang, Peng; Zhang, Shujie; Yi, Shang; Lin, Li; Zuo, Yangjin; Chen, Qiuli; Deng, Jianping; Zheng, Chenguang; Chen, Biyan
• Is Part Of: Hemoglobin. Volume 41:Number 4/5/6(2017)
• Page Start: 297
• Page End: 299
• Publication Date: 2017-11-02
• Subjects: α-Globin gene cluster -- α-thalassemia (α-thal) -- multiplex ligation-dependent probe amplification (MLPA) -- array comparative genomic hybridization (aCGH); Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2017.1366919
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a large novel α-globin cluster deletion that we named – – PG (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the 5′ end to the RAB11FIP3 gene at the 3′ end of chromosome 16p13.3. This deletion removes all the globin distal regulatory elements as well as the whole α-globin gene cluster. Patients with heterozygous – – PG /αα had red blood cell (RBC) indices consistent with α-thalassemia (α-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism, unusual facies or genital anomalies.