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, S. N. Thibodeau, M. M. Green, J. D. Hoyer, S. H. Block, C. Day, R. T. Jones, R. C. Barwick

Research output: Contribution to journalArticle

19 Scopus citations

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 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 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
DOIs
StatePublished - Jan 1 1997

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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    Hutt, P. J., Fairbanks, V. F., Thibodeau, S. N., Green, M. M., Hoyer, J. D., Block, S. H., Day, C., Jones, R. T., & 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. https://doi.org/10.3109/03630269708997381