Lee P L, Ho N J, Olson R, Beutler E
Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 N. Torrey Pines, La Jolla, CA 92037, USA.
Blood Cells Mol Dis. 1999 Oct-Dec;25(5-6):374-9. doi: 10.1006/bcmd.1999.0267.
The effect of five different transferrin variants (TFv1, TFv2, TFv3, TFv4, and TFv5) on the hemoglobin level, mean corpuscular volume (MCV), ferritin level, percent transferrin saturation (%TS), and the unsaturated iron binding capacity (UIBC) was investigated in subjects with defined HFE haplotypes, 919 persons undergoing health screening and 113 patients with clinical hemochromatosis. The most common variant is TFv4; the population distribution of this variant was also studied. None of the variants were found to have an effect on any of the parameters of iron metabolism that were investigated. Moreover, the frequency of these variants in patients with clinically significant hemochromatosis was no different from that in the general population. We conclude that these polymorphisms in transferrin do not play a role in the expression of hemochromatosis, nor do they produce any other significant changes in iron metabolism.
在具有明确HFE单倍型的受试者、919名接受健康筛查的人和113名临床血色素沉着症患者中，研究了五种不同转铁蛋白变体（TFv1、TFv2、TFv3、TFv4和TFv5）对血红蛋白水平、平均红细胞体积（MCV）、铁蛋白水平、转铁蛋白饱和度百分比（%TS）和不饱和铁结合能力（UIBC）的影响。最常见的变体是TFv4；还研究了该变体的人群分布。未发现任何变体对所研究的铁代谢参数有影响。此外，这些变体在具有临床显著性血色素沉着症患者中的频率与一般人群中的频率没有差异。我们得出结论，转铁蛋白中的这些多态性在血色素沉着症的表达中不起作用，也不会在铁代谢中产生任何其他显著变化。
