title: Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis.
abstract: Hemoglobin variants with two amino acid substitutions affecting one globin chain are relatively rare. Hb T-Cambodia, a doubly substituted beta-globin variant, was characterized previously by amino acid sequencing as having sequence alterations in beta 26 (beta 8)Glu-->Lys and beta 121(GH4) Glu-->Gln (1). It is a variant that migrates cathodic to Hb A2 on alkaline electrophoresis and with Hb A on acid citrate agar electrophoresis. We report here the mutations of Hb T-Cambodia at the nucleotide level using DNA sequencing, in beta-globin gene codon 121 (GAA-->CAA) and in codon 26 (GAG-->AAG). These are the mutations of Hb D-Punjab and Hb E, respectively.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: P J
authors.initials: PJ
authors.lastname: Hutt
authors.forename: V F
authors.initials: VF
authors.lastname: Fairbanks
authors.forename: S N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: M M
authors.initials: MM
authors.lastname: Green
authors.forename: J D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: S H
authors.initials: SH
authors.lastname: Block
authors.forename: C
authors.initials: C
authors.lastname: Day
authors.forename: R T
authors.initials: RT
authors.lastname: Jones
authors.forename: R C
authors.initials: RC
authors.lastname: Barwick
mesh_terms: D000328:Adult; D001797:Blood Protein Electrophoresis; D002851:Chromatography, High Pressure Liquid; D005091:Exons / Q000235:genetics; D006446:Hemoglobin E / Q000737:chemistry / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010455:Peptides / Q000737:chemistry; D017422:Sequence Analysis, DNA; D014357:Trypsin
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D010455:Peptides; C106776:hemoglobin T-Cambodia; C026237:hemoglobin D Punjab; D006446:Hemoglobin E; D014357:Trypsin