Burke Wylie, Reyes Michele, Imperatore Giuseppina
Department of Medical History and Ethics, Box 357120, University of Washington, 1959 NE Pacific, Room A204, Seattle, WA 98195, USA.
Best Pract Res Clin Haematol. 2002 Jun;15(2):315-28.
Iron overload in body tissues can cause complications such as cirrhosis, cardiomyopathy, diabetes, hypogonadism and arthritis. In populations of northern European descent, most iron overload is due to hereditary haemochromatosis (HHC), a genetic condition that causes increased iron absorption. HHC can be treated or prevented by regular phlebotomy treatments. Some experts have called for population screening for HHC, so that early phlebotomy treatment can be initiated. Two screening tests are available: measurement of the serum iron transferrin saturation (Tf%) and genetic testing for HFE mutations. However, both methods have low positive predictive values. Current data suggest that most people at risk are unlikely to develop clinical symptoms and that the population prevalence of clinical complications of HHC is low, arguing against population screening. Two other prevention strategies are available. (1) Health provider education, to heighten awareness of HHC as an explanation for symptoms and signs seen in early iron overload including unexplained fatigue, joint pain, palpitations, abdominal pain, elevated liver function tests, hepatomegaly and elevated serum ferritin. (2) Family-based testing after a diagnosis of HHC, to ensure that relatives are evaluated for evidence of iron overload. More research is also needed to identify the factors that increase risk for disease in persons with excess iron uptake, to determine whether moderate iron overload is a health risk and to evaluate the causes of iron overload other than HHC.
身体组织中的铁过载会引发诸如肝硬化、心肌病、糖尿病、性腺功能减退和关节炎等并发症。在北欧后裔人群中，大多数铁过载是由遗传性血色素沉着症（HHC）引起的，这是一种导致铁吸收增加的遗传疾病。HHC可以通过定期放血治疗来治疗或预防。一些专家呼吁对HHC进行人群筛查，以便尽早开始放血治疗。有两种筛查测试方法：测量血清铁转铁蛋白饱和度（Tf%）和检测HFE基因突变。然而，这两种方法的阳性预测值都很低。目前的数据表明，大多数有风险的人不太可能出现临床症状，而且HHC临床并发症的人群患病率较低，这反对进行人群筛查。还有另外两种预防策略。（1）对医疗服务提供者进行教育，提高对HHC的认识，将其作为早期铁过载时出现的症状和体征的一种解释，这些症状和体征包括不明原因的疲劳、关节疼痛、心悸、腹痛、肝功能检查结果升高、肝肿大和血清铁蛋白升高。（2）在诊断出HHC后进行基于家庭的检测，以确保对亲属进行铁过载证据的评估。还需要更多的研究来确定铁摄取过多的人群中增加疾病风险的因素，确定中度铁过载是否对健康有风险，并评估除HHC之外的铁过载原因。
