Hb Tak: a beta chain elongation at the end of the beta chain, in a Taiwanese.
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.
Shih
Mu-Chin
MC
Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Wu
Kang-His
KH
Liu
Su-Ching
SC
Chang
Jan-Gowth
JG
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
D006455:Hemoglobins, Abnormal; C111400:hemoglobin Tak