Milman N, Eiberg H, Thymann M, Fenger K
Department of Pulmonary Medicine, Gentofte Hospital, Hellerup, Denmark.
Hum Genet. 1992 Feb;88(4):475-6. doi: 10.1007/BF00215685.
Transferrin (TF) subtypes were determined by isoelectric focusing in 51 unrelated Danish patients with hereditary haemochromatosis (HH) and in 847 normal subjects. The following TF phenotype frequencies were observed in HH patients and controls, respectively: TFC1, 70.6% vs. 58.8%; TFC2, 5.9% vs. 2.4%; TFC3, 0% vs. 0.4%; TFC1-2, 11.8% vs. 24.7%; TFC1-3, 5.9% vs. 9.7%; TFC2-3, 3.9% vs. 2.2%; TFB-C1, 2.0% vs. 1.5%; TFB-C2, 0% vs. 0.4%. None of these differences were statistically significant. There was no relationship between the TF subtypes and the clinical or paraclinical expression of disease in HH patients.
采用等电聚焦法对51例无亲缘关系的丹麦遗传性血色素沉着症（HH）患者及847名正常受试者的转铁蛋白（TF）亚型进行了测定。在HH患者和对照组中分别观察到以下TF表型频率：TFC1，70.6% 对58.8%；TFC2，5.9% 对2.4%；TFC3，0% 对0.4%；TFC1-2，11.8% 对24.7%；TFC1-3，5.9% 对9.7%；TFC2-3，3.9% 对2.2%；TFB-C1，2.0% 对1.5%；TFB-C2，0% 对0.4%。这些差异均无统计学意义。在HH患者中，TF亚型与疾病的临床或亚临床表现之间无关联。
