Trent R J, Yakas J, Brock P E, Kronenberg H
Hemoglobin. 1986;10(5):507-17. doi: 10.3109/03630268609014135.
Function of the triplicated alpha alpha alpha 4.2/gene rearrangement was assessed by measurement of Hb Bart's and hematological phenotype including alpha/beta biosynthesis ratio. Increased output of alpha globin chains in alpha alpha alpha 4.2/-- compared to alpha alpha/-- was found in a cord blood. In contrast, hematological phenotypes in two family members with the alpha alpha alpha 4.2/-- genotype were consistent with that expected in alpha alpha/--. This would suggest that the additional alpha gene in the alpha alpha alpha 4.2/rearrangement has variable expression.
通过测量血红蛋白Bart's以及包括α/β生物合成比率在内的血液学表型，对三倍体ααα4.2/基因重排的功能进行了评估。在脐血中发现，与αα/--相比，ααα4.2/--中α珠蛋白链的产量增加。相比之下，两名具有ααα4.2/--基因型的家族成员的血液学表型与αα/--预期的表型一致。这表明ααα4.2/重排中额外的α基因具有可变表达。
