Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis

P. J. Hutt, V. F. Fairbanks, Stephen N Thibodeau, M. M. Green, James Hoyer, S. H. Block, C. Day, R. T. Jones, R. C. Barwick

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Hemoglobin variants with two amino acid substitutions affecting one globin chain are relatively rare. Hb T-Cambodia, a doubly substituted β- globin variant, was characterized previously by amino acid sequencing as having sequence alterations in β26(β8)Glu→Lys and β121(GH4)Glu→Gln (1). It is a variant that migrates cathodic to Hb A 2 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 β-globin gene codon 121 (GAA→CAA) and in codon 26 (GAG→AAG). These are the mutations of Hb D-Punjab and Hb E, respectively.

Original languageEnglish (US)
Pages (from-to)205-218
Number of pages14
JournalHemoglobin
Volume21
Issue number3
StatePublished - 1997

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Globins
Electrophoresis
Codon
Mutation
DNA
Amino Acids
Protein Sequence Analysis
Amino Acid Substitution
DNA Sequence Analysis
varespladib methyl
Citric Acid
Agar
Hemoglobins
Substitution reactions
Nucleotides
Genes
Acids
hemoglobin T-Cambodia

ASJC Scopus subject areas

  • Hematology
  • Biochemistry

Cite this

Hutt, P. J., Fairbanks, V. F., Thibodeau, S. N., Green, M. M., Hoyer, J., Block, S. H., ... Barwick, R. C. (1997). Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis. Hemoglobin, 21(3), 205-218.

Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis. / Hutt, P. J.; Fairbanks, V. F.; Thibodeau, Stephen N; Green, M. M.; Hoyer, James; Block, S. H.; Day, C.; Jones, R. T.; Barwick, R. C.

In: Hemoglobin, Vol. 21, No. 3, 1997, p. 205-218.

Research output: Contribution to journalArticle

Hutt, PJ, Fairbanks, VF, Thibodeau, SN, Green, MM, Hoyer, J, Block, SH, Day, C, Jones, RT & Barwick, RC 1997, 'Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis', Hemoglobin, vol. 21, no. 3, pp. 205-218.
Hutt, P. J. ; Fairbanks, V. F. ; Thibodeau, Stephen N ; Green, M. M. ; Hoyer, James ; Block, S. H. ; Day, C. ; Jones, R. T. ; Barwick, R. C. / Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis. In: Hemoglobin. 1997 ; Vol. 21, No. 3. pp. 205-218.
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AU - Fairbanks, V. F.

AU - Thibodeau, Stephen N

AU - Green, M. M.

AU - Hoyer, James

AU - Block, S. H.

AU - Day, C.

AU - Jones, R. T.

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