Loginov A S, Tokarev Iu N, Settarova D A, Sukhareva G V
Ter Arkh. 1988;60(10):117-21.
The authors followed-up 76 patients with hereditary hemochromatosis whose diagnosis was confirmed by morphological signs of liver, pancreatic, pulmonary, gastric, and myocardial changes. The most informative laboratory indices of iron metabolism were defined (transferrin saturation with iron and the level of ferritin in the serum and erythrocytes). HLA typing of probands and their relatives was recommended to specify the hereditary nature of disease.
作者对76例遗传性血色素沉着症患者进行了随访,这些患者的诊断通过肝脏、胰腺、肺、胃和心肌变化的形态学体征得以证实。确定了铁代谢最具信息价值的实验室指标(转铁蛋白铁饱和度以及血清和红细胞中的铁蛋白水平)。建议对先证者及其亲属进行HLA分型,以明确疾病的遗传性质。