Hb Tak: A β Chain Elongation at the End of the β Chain, in a Taiwanese

Mu-Chin Shih Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan

Kang-His Wu Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan

Su-Ching Liu Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan

Jan-Gowth Chang Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan; Department of Molecular Medicine, China Medical University Hospital, 2 Yuh Der Road, Taichung, Taiwan

, M.D.

Abstract

Hemoglobin (Hb) variants caused by an elongation of the β-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 β chain by 11 amino acids.

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Hb Tak: A β Chain Elongation at the End of the β Chain, in a Taiwanese

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Hb Tak: A β Chain Elongation at the End of the β Chain, in a Taiwanese

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