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Hb Wanjiang: A New β-Globin Chain Variant with Two Amino Acid Substitutions ( HBB : c.255_264delinsTTTTTCTCAG).

Authors :
Wu SM
Jiang F
Li C
Guo ZT
Huang SR
Li DZ
Source :
Hemoglobin [Hemoglobin] 2022 Mar; Vol. 46 (2), pp. 129-131. Date of Electronic Publication: 2022 Aug 11.
Publication Year :
2022

Abstract

We report a new hemoglobin (Hb) variant that we have named Hb Wanjiang ( HBB : c.255_264delinsTTTTTCTCAG). We identified this variant in a Chinese man by the next-generation sequencing (NGS) method. The father of the proband also carried the same variant. This variant results from a 10 bp deletion at codons 84-87 of the β-globin chain, replaced with 10 nucleotides coming from the δ-globin gene at the same position, leading to the substitution of two amino acids in the peptide chain with no change in the β-globin chain length. The heterozygotes had a normal hematological feature with no abnormal Hb variant detectable on capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). The combination of Hb Wanjiang and β-thalassemia (β-thal) was not found to aggravate anemia.

Details

Language :
English
ISSN :
1532-432X
Volume :
46
Issue :
2
Database :
MEDLINE
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
35950878
Full Text :
https://doi.org/10.1080/03630269.2022.2085113