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.
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.
D000595:Amino Acid Sequence; D000743:Anemia, Hemolytic / Q000209:etiology*; D004200:Diseases in Twins; D005319:Fetal Hemoglobin / Q000032:analysis; D005998:Glycine / Q000032:analysis; D006455:Hemoglobins, Abnormal; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology*; D008297:Male; D014364:Tryptophan / Q000032:analysis
D006455:Hemoglobins, Abnormal; D014364:Tryptophan; D005319:Fetal Hemoglobin; D005998:Glycine