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Hb Tak: a beta chain elongation at the end of the beta chain, in a Taiwanese
Mu-Chin Shih1, Kang-His Wu, Su-Ching Liu
1Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Hemoglobin (Hb) variants caused by an elongation of the beta-globin chain are rare. In this study, we present the first case of Hb Tak in a Taiwanese. Hb Tak is caused by an insertion of the dinucleotides AC into codon 146 that abolishes the normal stop codon at position 147. This insertion results in a frameshift causing elongation of the beta chain by 11 amino acids.
Hemoglobin (Hb) variants caused by an elongation of the beta-globin chain are rare. In this study, we present the first case of Hb Tak in a Taiwanese. Hb Tak is caused by an insertion of the dinucleotides AC into codon 146 that abolishes the normal stop codon at position 147. This insertion results in a frameshift causing elongation of the beta chain by 11 amino acids.
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