五个携带Hb F马耳他Gγ-117组氨酸突变为精氨酸杂合子的意大利新生儿的γ链组成

gamma chain composition in five Italian newborns heterozygous for Hb F Malta G gamma-117 His leads to Arg.

作者信息

Mazza U, Meloni T, David O, Pich P G, Camaschella C, Saglio G, Ciocca Vasino M A, Guerrasio A, Ricco G

出版信息

Br J Haematol. 1980 Jan;44(1):93-9. doi: 10.1111/j.1365-2141.1980.tb01187.x.

DOI:10.1111/j.1365-2141.1980.tb01187.x

Abstract

The percentage of Hb F Malta G gamma-177 His replaced by Arg and the gamma chain composition have been evaluated at birth and at different times after birth in five Italian newborns heterozygous for this variant. The percentage of Hb F Malta ranged at birth from 24% to 31% of the total Hb F, while the average G gamma/A gamma chain ratio was about 7/3, overlapping the values observed in normal newborns. T gamma chains were detected in three out of five newborns, with a percentage of about 10% of the total Hb F. After birth the Hb F Malta declined faster than the total Hb F; thus, the Hb F decrease during the first 45 d of life is mainly due to the switch-off of the G gamma locus containing the Hb F Malta gene.

摘要

在五名携带此变异杂合子的意大利新生儿中，对出生时及出生后不同时间点的Hb F马耳他型中Gγ-177位组氨酸被精氨酸取代的百分比以及γ链组成进行了评估。出生时，Hb F马耳他型占总Hb F的百分比在24%至31%之间，而平均Gγ/Aγ链比值约为7/3，与正常新生儿中观察到的值重叠。在五名新生儿中有三名检测到了Tγ链，其占总Hb F的百分比约为10%。出生后，Hb F马耳他型下降速度比总Hb F更快；因此，出生后前45天内Hb F的减少主要是由于含有Hb F马耳他型基因的Gγ基因座的关闭。