title: Hb Hekinan in a Taiwanese subject: a G-->T substitution at codon 27 of the alpha1-globin gene abolishes an HaeIII site.
abstract: We recently observed a heterozygote for Hb Hekinan in a Taiwanese subject. The molecular lesion of Hb Hekinan is a substitution of G-->T at codon 27 of the alpha1-globin gene, which abolishes an HaeIII restriction enzyme site. Hb Hekinan [alpha27(B8)Glu-->Asp, GAG-->GAC (alpha2)] has not been found in Taiwan. This variant can be detected by high performance liquid chromatography (HPLC) but not by capillary or cellulose electrophoresis.
authors.affiliation: Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Hung-Chang
authors.initials: HC
authors.lastname: Shih
authors.forename: Mu-Chin
authors.initials: MC
authors.lastname: Shih
authors.forename: Yu-Chang
authors.initials: YC
authors.lastname: Chang
authors.forename: Ching-Tien
authors.initials: CT
authors.lastname: Peng
authors.forename: Tien-Jye
authors.initials: TJ
authors.lastname: Chang
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D013624:Taiwan; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C056356:hemoglobin Hekinan; D015252:Deoxyribonucleases, Type II Site-Specific; C024403:GGCC-specific type II deoxyribonucleases