Publication: Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2
Issued Date
2019-01-02
Resource Type
ISSN
1532432X
03630269
03630269
Other identifier(s)
2-s2.0-85066083364
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Hemoglobin. Vol.43, No.1 (2019), 52-55
Suggested Citation
Manit Nuinoon, Orapan Thipthara, Suthat Fucharoen Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2. Hemoglobin. Vol.43, No.1 (2019), 52-55. doi:10.1080/03630269.2019.1599907 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/50293
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2
Author(s)
Other Contributor(s)
Abstract
© 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group. This study reports the case of 2-year-old Northeastern Thai girl with β-thalassemia (β-thal) disease who has required regular blood transfusions since she was 8 months old. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) separated Hb A2/E (16.5%), Hb F (22.7%), Hb A (51.8%) and an abnormal peak (Hb X) found at a retention time (RT) of 5.05 min. (C-window) with 2.8%. Multiplex gap-polymerase chain reaction (gap-PCR) revealed heterozygous α-thalassemia-2 (α-thal-2) (–α3.7/αα; NG_000006.1: g.34164_37967 del3804). This patient was suspected of having a β-globin chain variant and Hb E (HBB: c.79G>A) according to the high Hb F level and disease presentations. Surprisingly, Hb Mahasarakham (the geographic origin of the proband), a novel single nucleotide deletion (–G) at the first nucleotide of codon 121 (HBB: c.364delG), was identified by direct DNA sequencing and secondary confirmation by PCR-restriction fragment length polymorphism (PCR-RFLP). This novel mutation causes a frameshift mutation and added 10 more residues to the β-globin chain that was elongated to 156 amino acids. Molecular basis of this novel mutation in the heterozygous state is required to confirm the mode of inheritance.