Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype

Hemoglobin. 2004 Aug;28(3):217-22. doi: 10.1081/hem-120040219.

Abstract

We report the sixth occurrence of Hb Belfast [beta15(A12)Trp-->Arg], a mild, unstable beta chain variant, in a large family wherein nine subjects were affected. DNA analysis showed a TUG-->AGG mutation at codon 15 of the beta-globin gene, confirming a Trp-->Arg amino acid substitution. The oxygen affinity of the isolated variant was increased. The clinical phenotype is silent or very mild, the only clinical finding being an intermittent moderate jaundice.

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics*
  • Codon / genetics
  • Family
  • Female
  • Hemoglobins, Abnormal / chemistry*
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Male
  • Middle Aged
  • Oxygen / chemistry*
  • Oxygen / metabolism
  • Pedigree
  • Phenotype*
  • Point Mutation / genetics*
  • Protein Binding / genetics

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Belfast
  • Oxygen