title: The unstable Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser observed in an Indian child; identification by HPLC and by sequence analysis of amplified DNA.
abstract: We have identified the unstable hemoglobin variant present in a Chipewayan Indian patient with severe hemolytic anemia as Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser. Her parents were normal. Identification was greatly facilitated by the use of reversed phase high performance liquid chromatography for the isolation of the beta X chain and its tryptic fragments, and of sequence analysis of amplified DNA which readily identified a TTT(Phe)----TCT(Ser) mutation at codon 42.
authors.affiliation: Royal University Hospital, University of Saskatchewan, Saskatoon, Canada.
authors.forename: T A
authors.initials: TA
authors.lastname: Cunningham
authors.forename: F
authors.initials: F
authors.lastname: Baker
authors.forename: N L
authors.initials: NL
authors.lastname: Kobrinsky
authors.forename: B
authors.initials: B
authors.lastname: Cepreganova
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: J B
authors.initials: JB
authors.lastname: Wilson
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000235:genetics; D005260:Female; D005784:Gene Amplification / Q000235:genetics; D005914:Globins / Q000302:isolation & purification; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007198:Indians, North American; D009154:Mutation / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C011478:hemoglobin Hammersmith; D005914:Globins; D004247:DNA