George D K, Powell L W
Joint Liver Program, Queensland Institute of Medical Research, Brisbane, Australia.
Aliment Pharmacol Ther. 1997 Aug;11(4):631-9. doi: 10.1046/j.1365-2036.1997.00197.x.
Haemochromatosis was first recognized as a disease entity over a century ago and its hereditary nature recognized over 60 years ago. However it was only in late 1996 that the haemochromatosis gene was cloned and a single C282Y mutation confirmed as being the cause of all HLA-linked iron overload in Caucasian populations. Haemochromatosis is common, occurring in approximately 1 in 300 people in Caucasian populations, and untreated can cause serious morbidity and early death. However, the disease remains much underdiagnosed for reasons such as lack of awareness of the disease, the presence of normal liver function tests and the lack or non-specific nature of symptoms. A commercially available DNA-based test for the haemochromatosis gene is likely to be available in the near future but its place in the diagnosis and management of the disorder is not yet clear. Assessment of body iron stores by measurement of serum ferritin and transferrin saturation, hepatic iron stores and hepatic architecture by liver biopsy will remain important in the future. The haemochromatosis mutation itself has as yet no known influence on morbidity other than via iron loading and organ failure, in particular, hepatic cirrhosis. Thus, diagnosing patients before the development of hepatic cirrhosis is crucial because iron depletion by venesection treatment before the development of cirrhosis results in a normal life expectancy.
血色素沉着症在一个多世纪前首次被确认为一种疾病实体，其遗传特性在60多年前被发现。然而，直到1996年末，血色素沉着症基因才被克隆出来，并且单一的C282Y突变被确认为白种人群中所有与HLA相关的铁过载的病因。血色素沉着症很常见，在白种人群中约每300人中有1人患病，若不治疗会导致严重的发病和过早死亡。然而，由于对该疾病缺乏认识、肝功能检查正常以及症状缺乏或不具特异性等原因，该病仍大多未被诊断出来。一种基于DNA的血色素沉着症基因商业检测在不久的将来可能会上市，但它在该疾病的诊断和管理中的地位尚不清楚。通过测量血清铁蛋白和转铁蛋白饱和度来评估体内铁储存，以及通过肝活检评估肝脏铁储存和肝脏结构在未来仍将很重要。血色素沉着症突变本身，除了通过铁负荷和器官衰竭，特别是肝硬化，对发病率尚无已知影响。因此，在肝硬化发生之前诊断患者至关重要，因为在肝硬化发生之前通过静脉放血治疗耗尽铁会使预期寿命正常。
