Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.

Data are reported for an 85-year-old black make who had an HPFH condition on one chromosome and a suspected 'delta-thalassemia' on the other. Sequence analysis of amplified DNA of an appropriate segment of the delta-globin gene identified a GTG to ATG mutation for codon 98 and thus a Val----Met replacement in the delta chain. This abnormality was confirmed by hybridization of amplified DNA with 32P-labeled synthetic probes and by the amino-acid composition of the isolated tryptic peptide delta T-11. Thus, the 'delta-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 beta chain counterpart.
AuthorsJ F Codrington, F Kutlar, H F Harris, J B Wilson, T A Stoming, T H Huisman
JournalBiochimica et biophysica acta (Biochim Biophys Acta) Vol. 1009 Issue 1 Pg. 87-9 (Sep 21 1989) ISSN: 0006-3002 [Print] Netherlands
PMID2477064 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin A2 Wrens
  • Globins
  • Fetal Hemoglobin
  • Methionine
  • Valine
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Base Sequence
  • Codon
  • Exons
  • Fetal Hemoglobin (genetics, metabolism)
  • Gene Amplification
  • Globins (genetics)
  • Hemoglobins, Abnormal (genetics)
  • Humans
  • Male
  • Methionine
  • Molecular Sequence Data
  • Mutation
  • Nucleic Acid Hybridization
  • Thalassemia (genetics)
  • Valine

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