Edwards C Q, Griffen L M, Kushner J P
Department of Medicine, LDS Hospital, Salt Lake City, Utah.
Am J Med Sci. 1991 Jan;301(1):44-6. doi: 10.1097/00000441-199101000-00007.
The authors compared the amount of hepatic parenchymal cell stainable iron in 159 hemochromatosis homozygotes. They were separated into four groups. Group 1: 59 symptomatic hemochromatosis probands with hemochromatosis (mean age 49 years) who were identified because of symptoms and signs of iron overload. Group 2: 38 asymptomatic probands with hemochromatosis (mean age 29 years) identified during population screening studies or during routine health maintenance evaluation. Group 3: 47 homozygous relatives (mean age 43 years) of Group 1 probands. Group 4: 15 homozygous relatives (mean age 30 years) of Group 2 probands. The symptomatic probands (Group 1) were 20 years older and had much more stainable hepatic iron (p less than 0.0001) than the asymptomatic probands (Group 2). The homozygous relatives (Group 3) of the symptomatic probands also were older and had much more stainable hepatic iron than the homozygous relatives (Group 4) of asymptomatic probands (p less than 0.0002). The results of this study suggest that population screening studies can result in early identification of individuals with hemochromatosis before massive hepatic iron overload occurs and before symptoms of iron overload develop.
作者比较了159例血色素沉着症纯合子肝实质细胞中可染色铁的含量。他们被分为四组。第1组：59例有症状的血色素沉着症先证者，患有血色素沉着症（平均年龄49岁），因铁过载的症状和体征而被确诊。第2组：38例无症状的血色素沉着症先证者（平均年龄29岁），在人群筛查研究或常规健康维护评估中被发现。第3组：47例第1组先证者的纯合子亲属（平均年龄43岁）。第4组：15例第2组先证者的纯合子亲属（平均年龄30岁）。有症状的先证者（第1组）比无症状的先证者（第2组）年龄大20岁，肝内可染色铁也多得多（p<0.0001）。有症状先证者的纯合子亲属（第3组）也比无症状先证者的纯合子亲属（第4组）年龄大，肝内可染色铁也多得多（p<0.0002）。本研究结果表明，人群筛查研究可在大量肝铁过载发生之前以及铁过载症状出现之前早期识别出血色素沉着症患者。
