Hb A2-Wrens or α2δ298(FG5)Val → MEt, an unstable δ chain variant identified by sequence analysis of amplified DNA

John F. Codrington, Ferdane Kutlar, Herman F. Harris, Jerry B. Wilson, Terrance A. Stoming, Titus H.J. Huisman

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Data are reported for an 85-year-old black male who had an HPFH condition and a suspected 'δ-thalassemia' on the other. Sequence analysis of amplified DNA of an appropriate segment of the δ-globin gene identified a GTG to GTG mutation for codon 98 and thus a Val → Met replacement in the δ chain. This abnormality was confirmed by hybridization of amplified DNA with 12P-labeled synthetic probes and by the amino-acid composition of the isolated tryptic peptide δT-11. Thus, the 'δ-thalassemia' is caused by the presence of an Hb A2 variant that is considered to be unstable to a similar extent as is Hb Köln, its β chain counterpart.

Original languageEnglish (US)
Pages (from-to)87-89
Number of pages3
JournalBBA - Gene Structure and Expression
Volume1009
Issue number1
DOIs
StatePublished - Sep 21 1989

Keywords

  • DNA amplification
  • Delta variant
  • Hemoglobin
  • Peptide analysis
  • Sequencing
  • Unstable hemoglobin
  • δ-Thalassemia

ASJC Scopus subject areas

  • Structural Biology
  • Biophysics
  • Biochemistry
  • Genetics

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