Hemoglobin Ozieri: a new alpha-chain variant (alpha 71(E20)Ala-->Val). Characterization using FAB- and electrospray-mass spectrometric techniques

Biochim Biophys Acta. 1993 Mar 5;1162(1-2):203-8. doi: 10.1016/0167-4838(93)90148-k.

Abstract

A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. This asymptomatic variant was detected by means of isoelectric focusing (IEF), isolated using IEF in an immobilized ultranarrow pH-gradient and characterized at the structural level using FAB- and electrospray-mass spectrometric techniques. A Val for Ala substitution was unambiguously detected at position 71 of the alpha-globin chain. This substitution indicates that a C to T transition occurred in the GCG codon for Ala which contains one of the 35 unmethylated CpG dinucleotides of the alpha-globin gene. This observation brings the number of variants due to a mutation in the alpha-globin gene CpGs (the third instance of a silent mutation) to 13 and raises the possibility that unmethylated CpGs might be hotspots for mutations as the methylated ones.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine
  • Base Sequence
  • Fetal Blood
  • Globins / genetics
  • Hemoglobinopathies / blood*
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant, Newborn
  • Isoelectric Focusing
  • Italy
  • Mass Spectrometry / methods
  • Mutation
  • Valine

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Ozieri
  • Globins
  • Valine
  • Alanine