Bassett M L, Halliday J W, Ferris R A, Powell L W
Gastroenterology. 1984 Sep;87(3):628-33.
The reliability of serum iron, transferrin saturation, and serum ferritin in the detection of early iron overload in hemochromatosis was determined in 120 young (less than 35 yr old) relatives whose genetic susceptibility for the disease was determined by HLA typing of families. Serum ferritin and transferrin saturation demonstrated high levels of sensitivity and specificity, whereas serum iron concentration was an unreliable test in the detection of hemochromatosis. In hemochromatosis homozygotes there was an excellent correlation between serum ferritin and mobilized body iron (r = 0.92), 1 microgram/L of serum ferritin corresponding to approximately 7.5 mg of body iron stores. For a given age, serum ferritin values were higher in homozygotes compared with heterozygotes or homozygous-normal subjects and increased by approximately 65 micrograms/L X yr, reflecting the progressive accumulation of iron in hemochromatosis homozygotes. All hemochromatosis subjects with either hepatic fibrosis or cirrhosis had serum ferritin concentrations greater than 700 micrograms/L. We conclude that the combination of serum ferritin and transferrin saturation is a reliable screening regimen for the detection of hemochromatosis and for predicting the level of body iron stores in young hemochromatosis subjects.
在120名年轻（年龄小于35岁）亲属中，通过对家族进行HLA分型确定其对血色素沉着症的遗传易感性，从而测定血清铁、转铁蛋白饱和度和血清铁蛋白在检测血色素沉着症早期铁过载中的可靠性。血清铁蛋白和转铁蛋白饱和度显示出高度的敏感性和特异性，而血清铁浓度在检测血色素沉着症时是一项不可靠的检测指标。在血色素沉着症纯合子中，血清铁蛋白与动员的体内铁之间存在极好的相关性（r = 0.92），每升血清铁蛋白1微克大约对应7.5毫克体内铁储存量。对于给定年龄，纯合子的血清铁蛋白值高于杂合子或纯合正常受试者，并且每年大约增加65微克/升，这反映了血色素沉着症纯合子中铁的逐渐积累。所有患有肝纤维化或肝硬化的血色素沉着症患者血清铁蛋白浓度均大于700微克/升。我们得出结论，血清铁蛋白和转铁蛋白饱和度的联合检测是检测血色素沉着症以及预测年轻血色素沉着症患者体内铁储存水平的可靠筛查方案。
