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

Abstract

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.

• Authors: J F Codrington, F Kutlar, H F Harris, J B Wilson, T A Stoming, T H Huisman
• Journal: Biochimica et biophysica acta (Biochim Biophys Acta) Vol. 1009 Issue 1 Pg. 87-9 (Sep 21 1989) ISSN: 0006-3002 [Print] Netherlands
• PMID: 2477064 (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

Topics

• 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