A new cause of haemolytic anaemia in the newborn. A description of an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 trptophan yeilds glycine

J Clin Pathol. 1975 Apr;28(4):317-20. doi: 10.1136/jcp.28.4.317.

Abstract

In a newborn twin with haemolytic anaemia an unstable fetal haemoglobin was found to be the cause. The anaemia improved spontaneously with the disappearance of the fetal haemoglobin. The new Hb F (alpha2gamma2) variant was shown to have a glycine at position 130 of the 146 residues of the gamma chain. This portion is inside the globin molecule and in all known normal globins it is occupied by a residue with a bulky hydrophobic side chain. Its replacement by glycine which has no side chain would be expected to cause instability. The human gamma-chains may either have a glycine or an alanine at position 136. Evidence is brought forward to suggest that in the abnormal chain position 136 is occupied by glycine.

MeSH terms

  • Amino Acid Sequence
  • Anemia, Hemolytic / etiology*
  • Diseases in Twins
  • Fetal Hemoglobin* / analysis
  • Glycine / analysis
  • Hemoglobins, Abnormal*
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / etiology*
  • Male
  • Tryptophan / analysis

Substances

  • Hemoglobins, Abnormal
  • Tryptophan
  • Fetal Hemoglobin
  • Glycine