The Unstable HB Hammersmith or α₂β₂42(CD1)PHE→SER Observed in an Indian Child; Identification by HPLC AND by Sequence Analysis of Amplified DNA

T. A. Cunningham Royal University Hospital, University of Saskatchewan Saskatoon, Saskatchewan, S7N OX0, Canada

F. Baker Royal University Hospital, University of Saskatchewan Saskatoon, Saskatchewan, S7N OX0, Canada; Children's Aid Society, Toronto, Canada

N. L. Kobrinskyl Royal University Hospital, University of Saskatchewan Saskatoon, Saskatchewan, S7N OX0, Canada; Roger Maris Cancer Center, Fargo, ND, USA

B. Cepreganova Department of Biochemistry and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, GA, 30912 2100, USA

E. Baysal Department of Biochemistry and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, GA, 30912 2100, USA

J. B. Wilson Department of Biochemistry and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, GA, 30912 2100, USA

T. H. J. Huiwnan Department of Biochemistry and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, GA, 30912 2100, USA

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Abstract

We have identified the unstable hemoglobin variant present in a Chipewayan Indian patient with severe hemolytic anemia as Hb Hammersmith or α₂β₂42(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 β^X chain and its tryptic fragments, and of sequence analysis of amplified DNA which readily identified a TTT(Phe)ŤT(Ser) mutation at codon 42.

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The Unstable HB Hammersmith or α₂β₂42(CD1)PHE→SER Observed in an Indian Child; Identification by HPLC AND by Sequence Analysis of Amplified DNA

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The Unstable HB Hammersmith or α2β242(CD1)PHE→SER Observed in an Indian Child; Identification by HPLC AND by Sequence Analysis of Amplified DNA

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The Unstable HB Hammersmith or α₂β₂42(CD1)PHE→SER Observed in an Indian Child; Identification by HPLC AND by Sequence Analysis of Amplified DNA