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2. 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.

Author

Chen, Wei-Dong, Ren, Yu-Xiang, Wang, Ya-Jun, Xie, Wei-Jie, Li, Jie, Xu, An-Ping, and Ji, Ling

Subjects
HEMOGLOBIN polymorphisms, HETEROZYGOSITY, CAPILLARY electrophoresis, ASIANS, HYDROPS fetalis, HEMOGLOBINS
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 (TCT>TGT); 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. [ABSTRACT FROM AUTHOR]

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

Author

Chen WD, Ren YX, Wang YJ, Xie WJ, Li J, Xu AP, and Ji L

Subjects
Aged, Asian People, Electrophoresis, Capillary, Homozygote, Humans, Male, Mutation, Protein Stability, Sequence Deletion, Hemoglobins, Abnormal genetics, Heterozygote, alpha-Globins genetics, alpha-Thalassemia genetics
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.

Published
2019
Full Text
View/download PDF

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