The Membrane Transport Laboratory, The Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
J Gastroenterol Hepatol. 2013 Jul;28(7):1087-94. doi: 10.1111/jgh.12222.
Hereditary hemochromatosis (HH) is a widely recognized and well-studied condition in European populations. This is largely due to the high prevalence of the C282Y mutation of HFE. Although less common than in Europe, HH cases have been reported in the Asia-Pacific region because of mutations in both HFE and non-HFE genes. Mutations in all of the currently known genes implicated in non-HFE HH (hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin) have been reported in patients from the Asia-Pacific region. This review discusses the molecular basis of HH and the genes and mutations known to cause non-HFE HH with particular reference to the Asia-Pacific region. Challenges in the genetic diagnosis of non-HFE HH are also discussed and how new technologies such as next generation sequencing may be informative in the future.
遗传性血色素沉着症（HH）在欧洲人群中是一种广泛认可且研究充分的病症。这主要归因于 HFE 基因的 C282Y 突变的高发生率。尽管在欧洲少见，但由于 HFE 和非 HFE 基因的突变，HH 病例也有在亚太地区报道。亚太地区的患者已报道了所有目前已知的与非 HFE HH 相关的基因（含铁血黄素蛋白、hepcidin、转铁蛋白受体 2 和亚铁转运蛋白）中的突变。本综述讨论了 HH 的分子基础以及导致非 HFE HH 的基因和突变，特别参考了亚太地区。还讨论了非 HFE HH 遗传诊断中的挑战，以及下一代测序等新技术在未来可能如何提供信息。
