新生儿溶血性贫血的一个新病因。一种不稳定胎儿血红蛋白的描述：F·普尔，α2-G-γ2 130位色氨酸被甘氨酸取代。
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.
作者信息
Lee-Potter J P, Deacon-Smith R A, Simpkiss M J, Kamuzora H, Lehmann H
出版信息
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.
摘要
在一名患有溶血性贫血的新生儿双胞胎中，发现一种不稳定的胎儿血红蛋白是病因。随着胎儿血红蛋白的消失，贫血症状自发改善。新的Hb F（α2γ2）变体显示在γ链146个残基的第130位有一个甘氨酸。该部分位于珠蛋白分子内部，在所有已知的正常珠蛋白中，它被一个带有大的疏水侧链的残基占据。被没有侧链的甘氨酸取代预计会导致不稳定性。人类γ链在第136位可能有一个甘氨酸或一个丙氨酸。有证据表明，在异常链中第136位被甘氨酸占据。
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