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