title: Hb Tak: a beta chain elongation at the end of the beta chain, in a Taiwanese.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Mu-Chin
authors.initials: MC
authors.lastname: Shih
authors.forename: Kang-His
authors.initials: KH
authors.lastname: Wu
authors.forename: Su-Ching
authors.initials: SC
authors.lastname: Liu
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
mesh_terms: D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics*; D017433:Protein Structure, Secondary / Q000235:genetics; D013624:Taiwan
chemical_list: D006455:Hemoglobins, Abnormal; C111400:hemoglobin Tak