Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the – –SEA (Southeast Asian) α-Thalassemia Deletion. (3rd September 2019)

• Record Type: Journal Article
• Authors: Chen, Wei-Dong; Ren, Yu-Xiang; Wang, Ya-Jun; Xie, Wei-Jie; Li, Jie; Xu, An-Ping; Ji, Ling
• Is Part Of: Hemoglobin. Volume 43:Number 4/5(2019)
• Page Start: 286
• Page End: 288
• Publication Date: 2019-09-03
• Subjects: α-Globin gene -- compound heterozygote -- Hb Dongguan -- Southeast Asian deletion -- unstable hemoglobin (Hb) variant; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2019.1680383
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Here we report a 67-year-old Chinese male carrying an unstable novel hemoglobin (Hb) variant in compound heterozygosity with the – – SEA (Southeast Asian) α-thalassemia (α-thal) deletion. Hemoglobin analysis by capillary electrophoresis (CE) revealed a rapid degradation feature of the variant. Sanger sequencing of the Hb gene revealed a novel homozygous mutation in exon 2 of the α1-globin gene [α52(E1)Ser→Cys (T C T>T G T); HBA1 : c.158C>G]. We named this novel variant Hb Dongguan for the place of origin of the proband. Additionally, gap-polymerase chain reaction (gap-PCR) indicated the presence of the heterozygous – – SEA α-thal deletion.